国立精神・神経医療研究センターの研究活動・成果

NCNPの2022年の発表、掲載論文に関する検索結果

Search results

Item: 3

No.	Publication

Soluble APP-α and APP-β in cerebrospinal fluid as potential biomarkers for differential diagnosis of mild cognitive impairment.
Author(s):
  Araki W, Kanemaru K, Hattori K, Tsukamoto T, Saito Y, Yoshida S, Takano H, Sakata M, Yokoi Y, et al.
Source:
  Aging Clin Exp Res.
PMID:
  34283410
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment.
Author(s):
  Tabata K, Ishiyama A, Nakamura Y, Sasaki M, Inoue K, Goto YI.
Source:
  Eur J Med Genet.
PMID:
  35134569
Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions.
Author(s):
  Kawazoe T, Tobisawa S, Sugaya K, Uruha A, Miyamoto K, Komori T, Goto YI, Nishino I, Yoshihashi H, et al.
Source:
  Intern Med
PMID:
  34433719

NCNPの2021年の発表、掲載論文に関する検索結果

Search results

Item: 12

No.	Publication

Whole genome sequencing of 45 Japanese patients with intellectual disability
Author(s):
  Chihiro Abe-Hatano,Aritoshi Iida,Shunichi Kosugi,Yukihide Momozawa,Chikashi Terao,Keiko Ishikawa,Mariko Okubo,Yasuo Hachiya,Hiroya Nishida, et al.
Source:
  AMERICAN JOURNAL OF MEDICAL GENETICS Part A. 185(5):1468-1480, 2021
PMID:
  33624935
Profiling of Cerebrospinal Fluid Lipids and Their Relationship with Plasma Lipids in Healthy Humans
Author(s):
  Saito K, Hattori K, Hidese S, Sasayama D, Miyakawa T, Matsumura R, Tatsumi M, Yokota Y, Ota M, et al.
Source:
  Metabolites.
PMID:
  33923144
Serum levels of glial cell line-derived neurotrophic factor as a biomarker for mood disorders and lithium response.
Author(s):
  Idemoto K, Niitsu T, Hata T, Ishima T, Yoshida S, Hattori K, Horai T, Otsuka I, Yamamori H, et al.
Source:
  Psychiatry Res.
PMID:
  33990070
Reduced Cerebrospinal Fluid Levels of Lysophosphatidic Acid Docosahexaenoic Acid in Patients With Major Depressive Disorder and Schizophrenia.
Author(s):
  Omori W, Kano K, Hattori K, Kajitani N, Okada-Tsuchioka M, Boku S, Kunugi H, Aoki J, Takebayashi M.
Source:
  Int J Neuropsychopharmacol.
PMID:
  34214158
Nervonic acid level in cerebrospinal fluid is a candidate biomarker for depressive and manic symptoms: A pilot study.
Author(s):
  Kageyama Y, Deguchi Y, Hattori K, Yoshida S, Goto YI, Inoue K, Kato T.
Source:
  Brain Behav.
PMID:
  33599392
Linear cortical cystic lesions: Characteristic MR findings in MELAS patients.
Author(s):
  Ishigaki H, Sato N, Kimura Y, Takeshita E, Komaki H, Chiba E, Shigemoto Y, Goto YI, Mori-Yoshimura M, et al.
Source:
  Brain Dev.
PMID:
  34049744
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Author(s):
  Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, et al.
Source:
  Brain
PMID:
  33855352
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes
Author(s):
  Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, et al.
Source:
  JAMA Neurol
PMID:
  34047774
Hyperglycemic crisis in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-lke episodes (MELAS).
Author(s):
  Toki T, Shimizu-Motohashi Y, Komaki H, Takeshita E, Ishiyama A, Saito T, Mori-Yoshimura M, Sumitomo N, Hirasawa-Inoue A, et al.
Source:
  Pediat Neurol 114: 1-4, 2021
PMID:
  33189023
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Author(s):
  Abe-Hatano C, Iida A, Kosugi S, Momozawa Y, Terao C, Ishikawa K, Okubo M, Hachiya Y, Nishida H, et al.
Source:
  Am J Med Genet Part A 185: 1468-1480, 2021
PMID:
  33624935
Involvement of cytotoxic Eomes-expressing CD4+ T cells in secondary progressive multiple sclerosis
Author(s):
  Raveney BJE, Sato W, Takewaki D, Zhang C, Kanazawa T, Lin Y, Okamoto T, Araki M, Kimura Y, et al.
Source:
  Proc Natl Acad Sci U S A. 2021 Mar 16; 118(11): e2021818118, 2021
PMID:
  33836594
Cerebrospinal fluid inflammatory cytokine levels in patients with major psychiatric disorders: A multiplex immunoassay study.
Author(s):
  Hidese S. Hattori K. Sasayama D. Tsumagari T. Miyakawa T. Matsumura R. Yokota Y. Ishida I. Matsuo J. et al.
Source:
  Frontiers in Pharmacology, 11:594394, 2021
PMID:
  33708113

NCNPの2020年の発表、掲載論文に関する検索結果

Search results

Item: 12

No.	Publication

Higd1a improves respiratory function in the modes of mitochondrial disorder.
Author(s):
  Nagao T, Shintani Y, Hayashi T, Koika H, Kato H, Nishida Y, Yamazaki S, Tsukamoto O, Yashirogi S, et al.
Source:
  FASEB J 34:1859-1871, 2020
PMID:
  31914602
13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement.
Author(s):
  Miura M, Ishiyama A, Sumitomo N, Takeshita E, Hotohashi Y, Saito T, Komaki H, Nakagawa E, Sasaki M, et al.
Source:
  Bran Dev 42:581-586, 2020
PMID:
  32507666
DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
Author(s):
  Tarasaki A, Nakamura M, Urata Y, Hiwatahi H, Yokoyama I, Yasuda T, Onuma T, Wada K, Kaneko S, et al.
Source:
  J Hum Genet 66: 419-429, 2020
PMID:
  33040085
Chemical reversal of abnormalities in cells carrying mitochondrial DNA mutations.
Author(s):
  Kobayashi H, Hatakeyama H, Nishimura H, Yokota M, Suzuki S, Tomabechi Y, Shirouzu M, Osada H, Mimaki M, et al.
Source:
  Nat Chem Bio 17: 335-343, 2021
PMID:
  33168978
Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility.
Author(s):
  Hayase Y, Amano S, Hashizume K, Tominaga T, Miyamoto H, Kanno Y, Ueno-Inoue Y, Inoue T, Yamada M, et al.
Source:
  Acta Neuropathol Commun. 8: 206, 2020
PMID:
  33256836
Increased matrix metalloproteinases in cerebrospinal fluids of patients with major depressive disorder and schizophrenia
Author(s):
  Omori W, Hattori K, Kajitani N, Tsuchioka MO, Boku S, Kunugi H, Okamoto Y, Takebayashi M.
Source:
  Int J Neuropsychopharmacol 16;23:713-720, 2020
PMID:
  32671384
Increased apolipoprotein E and decreased TNF-α in the cerebrospinal fluid of nondemented APOE-ε4 carriers
Author(s):
  Sasayama D, Hattori K, Yokota Y, Matsumura R, Teraishi T, Yoshida S, Kunugi H.
Source:
  Neuropsychopharmacol Rep. 40:201-205, 2020
PMID:
  32426945
Characterization of Postprandial Effects on CSF Metabolomics: A Pilot Study with Parallel Comparison to Plasma
Author(s):
  Saito K, Hattori K, Andou T, Satomi Y, Gotou M, Kobayashi H, Hidese S, Kunugi H.
Source:
  Metabolites. 10:185, 2020
PMID:
  32384774
Cerebrospinal fluid neuroplasticity-associated protein levels in patients with psychiatric disorders: a multiplex immunoassay study.
Author(s):
  Hidese S, Hattori K, Sasayama D, Tsumagari T, Miyakawa T, Matsumura R, Yokota Y, Ishida I, Matsuo J, et al.
Source:
  Transl Psychiatry. 10:161, 2020
PMID:
  32439851
Altered ethanolamine plasmalogen and phosphatidylethanolamine levels in blood plasma of patients with bipolar disorder
Author(s):
  Ogawa S, Hattori K, Ota M, Hidese S, Miyakawa T, Matsumura R, Yokota Y, Ishida I, Matsuo J, et al.
Source:
  Psychiatry Clin Neurosci 74:204-210, 2020
PMID:
  31841251
A novel homoplasmic mitochondrial DNA mutation (m.13376T>C, p.I347T) of MELAS presenting characteristic medial temporal lobe atrophy
Author(s):
  Sasaki R, Ohta Y, Hatanaka N, Tadokoro K, Nomura E, Shang J, Takemoto M, Hishikawa N, Yamashita T, et al.
Source:
  J Neurol Sci 408:116460, 2020
PMID:
  31689606
A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding
Author(s):
  Tabata K, Iida A, Takeshita E, Nakagawa E, Sato N, Sasaki M, Inoue K,Goto YI.
Source:
  J Neurol Sci 412:116758, 2020
PMID:
  32193017

NCNPの2019年の発表、掲載論文に関する検索結果

Search results

Item: 20

No.	Publication

Lysophosphatidic acid levels in cerebrospinal fluid and plasma samples in patients with major depressive disorder
Author(s):
  Gotoh L, Yamada M, Hattori K, Sasayama D, Noda T, Yoshida S, Kunugi H,Yamada M.
Source:
  Heliyon 5:e01699, 2019
PMID:
  31193411
Static Leukoencephalopathy Associated with 17p13.3 Microdeletion Syndrome: A Case Report
Author(s):
  Hirasawa-Inoue A, Takeshita E, Shimizu-Motohashi Y, Ishiyama A, Saito T, Komaki H, Nakagawa E, Sugai K, Inoue K, et al.
Source:
  Neuropediatrics 50:387-390, 2019
PMID:
  31370080
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature
Author(s):
  Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, et al.
Source:
  Cold Spring Harb Mol Case Stud 5:2019
PMID:
  31444167
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency
Author(s):
  Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, et al.
Source:
  Ann Neurol 86:193-202, 2019
PMID:
  31155743
Reduced Serum and Cerebrospinal Fluid Levels of Autotaxin in Major Depressive Disorder
Author(s):
  Itagaki K, Takebayashi M, Abe H, Shibasaki C, Kajitani N, Okada-Tsuchioka M, Hattori K, Yoshida S, Kunugi H, et al.
Source:
  Int J Neuropsychopharmacol 22:261-269, 2019
PMID:
  30715387
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
Author(s):
  Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, et al.
Source:
  J Med Genet 56:396-407, 2019
PMID:
  30842224
Gut microbiota-dependent CCR9+CD4+ T cells are altered in secondary progressive multiple sclerosis
Author(s):
  Kadowaki A, Saga R, Lin Y, Sato W,Yamamura T.
Source:
  Brain 142:916-931, 2019
PMID:
  30770703
Altered polyunsaturated fatty acid levels in relation to proinflammatory cytokines, fatty acid desaturase genotype, and diet in bipolar disorder
Author(s):
  Koga N, Ogura J, Yoshida F, Hattori K, Hori H, Aizawa E, Ishida I,Kunugi H.
Source:
  Transl Psychiatry 9:208, 2019
PMID:
  31455761
Cerebrospinal fluid BDNF pro-peptide levels in major depressive disorder and schizophrenia
Author(s):
  Mizui T, Hattori K, Ishiwata S, Hidese S, Yoshida S, Kunugi H,Kojima M.
Source:
  J Psychiatr Res 113:190-198, 2019
PMID:
  30986693
A unique Japanese CPEO family with a novel homozygous m.14819T>G (p. S25A) substitution
Author(s):
  Nomura E, Ohta Y, Tadokoro K, Sato K, Sasaki R, Takahashi Y, Yamashita T, Takemoto M, Hishikawa N, et al.
Source:
  J Neurol Sci 400:145-147, 2019
PMID:
  30951992
A polymorphism of the methylenetetrahydrofolate reductase gene confers susceptibility to schizophrenia and related brain changes
Author(s):
  Ota M, Sato N, Yoshida F, Hattori K, Hidese S, Teraishi T,Kunugi H.
Source:
  Schizophr Res 208:462-464, 2019
PMID:
  30852115
Trait Loci Mapping and CSF Proteome
Author(s):
  Sasayama D, Hattori K,Kunugi H.
Source:
  Methods Mol Biol 2044:365-376, 2019
PMID:
  31432426
Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome
Author(s):
  Takeshita E, Iida A, Abe-Hatano C, Nakagawa E, Sasaki M, Inoue K,Goto YI.
Source:
  Hum Genome Var 6:48, 2019
PMID:
  31645986
Reduced plasma orexin-A levels in patients with bipolar disorder
Author(s):
  Tsuchimine S, Hattori K, Ota M, Hidese S, Teraishi T, Sasayama D, Hori H, Noda T, Yoshida S, et al.
Source:
  Neuropsychiatr Dis Treat 15:2221-2230, 2019
PMID:
  31496705
A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome
Author(s):
  Uchino S, Iida A, Sato A, Ishikawa K, Mimaki M, Nishino I,Goto YI.
Source:
  Hum Genome Var 6:19, 2019
PMID:
  31016024
Emery‐Dreifuss muscular dystrophy‐related myopathy with TMEM43 mutations
Author(s):
  Mukai T, Mori-Yoshimura M, Nishikawa A, Hokkoku K, Sonoo M, Nishino I, Takahashi Y.
Source:
  MUSCLE & NERVE 59:E5-E7, 2019
PMID:
  30311943
Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome
Author(s):
  Ozawa K, Mochizuki K, manabe Y, Yoshikura N, Shimohata T, Nishino I, Goto Y.
Source:
  DOCUMENTA OPHTHALMOLOGICA 138:147-152, 2019
PMID:
  30701423
Levels of lysophosphatidic acid in cerebrospinal fluid and plasma of patients with schizophrenia
Author(s):
  Gotoh L, Yamada M, Hattori K, Sasayama D, Noda T, Yoshida S, Kunugi H, Yamada M.
Source:
  PSYCHIATRY RESEARCH 273:331-335, 2019
PMID:
  30682553
Reduced Serum and Cerebrospinal Fluid Levels of Autotaxin in Major Depressive Disorder
Author(s):
  Itagaki K, Takebayashi M, Abe H, Shibasaki C, Kajitani N, Okada-Tsuchioka M, Hattori K, Yoshida S, Kunugi H, et al.
Source:
  INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY 22:261-269, 2019
PMID:
  30715387
A polymorphism of the methylenetetrahydrofolate reductase gene confers susceptibility to schizophrenia and related brain changes
Author(s):
  Ota M, Sato N, Yoshida F, Hattori K, Hidese S, Teraishi T, Kunugi H.
Source:
  SCHIZOPHRENIA RESEARCH, 2019
PMID:
  30852115

NCNPの2018年の発表、掲載論文に関する検索結果

Search results

Item: 39

No.	Publication

Efficacy of Prednisolone in Generated Myotubes Derived From Fibroblasts of Duchenne Muscular Dystrophy Patients
Author(s):
  Kameyama T, Ohuchi K, Funato M, Ando S, Inagaki S, Sato A, Seki J, Kawase C, Tsuruma K, et al.
Source:
  FRONTIERS IN PHARMACOLOGY 9:1402, 2018
PMID:
  30559667
A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4
Author(s):
  Sasaki-Honda M, Jonouchi T, Arai M, Hotta A, Mitsuhashi S, Nishino I, Matsuda R, Sakurai H.
Source:
  HUMAN MOLECULAR GENETICS 27:4024-4035, 2018
PMID:
  30107443
Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B
Author(s):
  Okubo M, Iida A, Hayashi S, Mori-Yoshimura M, Oya Y, Watanabe A, Arahata H, El Sherif R, Noguchi S, et al.
Source:
  JOURNAL OF THE NEUROLOGICAL SCIENCES 395:169-171, 2018
PMID:
  30366248
Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552∗)
Author(s):
  Ohta Y, Tadokoro K, Sasaki R, Takahashi Y, Sato K, Takemoto M, Hishikawa N, Shang J, Yamashita T, et al.
Source:
  JOURNAL OF CLINICAL NEUROSCIENCE 58:215-217, 2018
PMID:
  30327220
Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation
Author(s):
  Tadokoro K, Ohta Y, Sasaki R, Takahashi Y, Sato K, Shang J, Takemoto M, Hishikawa N, Yamashita T, et al.
Source:
  JOURNAL OF THE NEUROLOGICAL SCIENCES 393:142-144, 2018
PMID:
  30195123
Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy
Author(s):
  Oitani Y, Ishiyama A, Kosuga M, Iwasawa K, Ogata A, Tanaka F, Takeshita E, Shimizu-Motohashi Y, Komaki H, et al.
Source:
  BRAIN AND DEVELOPMENT 40:837-840, 2018
PMID:
  29778277
Quantification of lectin fluorescence in GNE myopathy muscle biopsies
Author(s):
  Leoyklang P, Class B, Noguchi S, Gahl WA, Carrillo N, Nishino I, Huizing M, Malicdan MC.
Source:
  MUSCLE & NERVE 58:286-292, 2018
PMID:
  29603301
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen
Author(s):
  Kumutpongpanich T, Owattanapanich W, Tanboon J, Nishino I, Boonyapisit K.
Source:
  NEUROMUSCULAR DISORDERS 28:610-613, 2018
PMID:
  29910095
A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
Author(s):
  Ishiyama A, Iida A, Hayashi S, Komaki H, Sasaki M, Nonaka I, Noguchi S, Nishino I.
Source:
  HUMAN GENOME VARIATION 5:19, 2018
PMID:
  30083363
A new familial distal myopathy in Japan with predominant upper extremities
Author(s):
  Takahashi Y, Ohta Y, Sasaki R, Tadokoro K, Sato K, Shang J, Takemoto M, Hishikawa N, Yamashita T, et al.
Source:
  JOURNAL OF THE NEUROLOGICAL SCIENCES 390:205-207, 2018
PMID:
  29801888
Anti-mitochondrial antibody-associated myositis with eosinophilia and dropped head
Author(s):
  Shimizu H, Nishino I, Ueda T, Kohara N, Nishioka H.
Source:
  ENEUROLOGICALSCI 11:15-16, 2018
PMID:
  29928712
Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy
Author(s):
  Inoue M, Iida A, Hayashi S, Mori-Yoshimura M, Nagaoka A, Yoshimura S, Shiraishi H, Tsujino A, Takahashi Y, et al.
Source:
  HUMAN GENOME VARIATION 5:9, 2018
PMID:
  29899994
Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN
Author(s):
  Ishiyama A, Kimura Y, Iida A, Saito Y, Miyamoto Y, Okada M, Sato N, Nishino I, Sasaki M.
Source:
  NEUROLOGY 90:974-976, 2018
PMID:
  29695595
NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy
Author(s):
  Ishiyama A, Muramatsu K, Uchino S, Sakai C, Matsushima Y, Makioka N, Ogata T, Suzuki E, Komaki H, et al.
Source:
  CLINICAL GENETICS 93:1103-1106, 2018
PMID:
  29344937
A mild myopathy with anti-SRP plus anti-PL-12 antibodies successfully treated by oral steroid monotherapy
Author(s):
  Tadokoro K, Ohta Y, Sasaki R, Takahashi Y, Sato K, Shang J, Takemoto M, Hishikawa N, Yamashita T, et al.
Source:
  JOURNAL OF THE NEUROLOGICAL SCIENCES 388:7-9, 2018
PMID:
  29627033
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia
Author(s):
  Kondo T, Yasuda T, Mukaida K, Otsuki S, Kanzaki R, Miyoshi H, Hamada H, Nishino I, Kawamoto M.
Source:
  JOURNAL OF ANESTHESIA 32:174-181, 2018
PMID:
  29344738
The relationship between circulating mitochondrial DNA and inflammatory cytokines in patients with major depression
Author(s):
  Kageyama Y, Kasahara T, Kato M, Sakai S, Deguchi Y, Tani M, Kurida K, Hattori K, Yoshida S, et al.
Source:
  JOURNAL OF AFFECTIVE DISORDERS 233:15-20, 2018
PMID:
  28633757
CO2-sensitive tRNA modification associated with human mitochondrial disease
Author(s):
  Lin H, Miyauchi K, Harada T, Okita R, Takeshita E, Komaki H, Fujioka K, Yagasaki H, Goto Y, et al.
Source:
  NATURE COMMUNICATIONS 9:1875, 2018
PMID:
  29760464
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights
Author(s):
  Kushima I, Aleksic B, Nakatochi M, Shimamura T, Okada T, Uno Y, Morikawa M, Ishizuka K, Shiino T, et al.
Source:
  CELL REPORTS 24:2838-2856, 2018
PMID:
  30208311
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
Author(s):
  Iida A, Takeshita E, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Kurosawa K, Inoue K, et al.
Source:
  HUMAN GENOME VARIATION 6:1, 2018
PMID:
  30534410
13 C-phenylalanine breath test and serum biopterin in schizophrenia, bipolar disorder and major depressive disorder
Author(s):
  Teraishi T, Kajiwara M, Hori H, Sasayama D, Hidese S, Matsuo J, Ishida I, Kajiwara Y, Ozeki Y, et al.
Source:
  JOURNAL OF PSYCHIATRIC RESEARCH 99:142-150, 2018
PMID:
  29454221
Low cocaine- and amphetamine-regulated transcript (CART) peptide levels in human cerebrospinal fluid of major depressive disorder (MDD) patients
Author(s):
  Yoon HS, Hattori K, Sasayama D, Kunugi H.
Source:
  JOURNAL OF AFFECTIVE DISORDERS 232:134-138, 2018
PMID:
  29486339
Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect
Author(s):
  Ikeda M, Takahashi A, Kamatani Y, Momozawa Y, Saito T, Kondo K, Shimasaki A, Kawase K, Sakusabe T, et al.
Source:
  SCHIZOPHRENIA BULLETIN, 2018
PMID:
  30285260
Altered tdp-43 dependent splicing in hspb8-related distal hereditary motor neuropathy and myofibrillar myopathy
Author(s):
  Cortese A, Laura M, Casali C, Nishino I, Hayashi YK, Magri S, Taroni F, Stuani C, Saveri P, et al.
Source:
  EUROPEAN JOURNAL OF NEUROLOGY 25:154-163, 2018
PMID:
  29029362
Increased cerebrospinal fluid complement C5 levels in major depressive disorder and schizophrenia.
Author(s):
  Ishii T, Hattori K, Miyakawa T, Watanabe K, Hidese S, Sasayama D, Ota M, Teraishi T, Hori H, et al.
Source:
  Biochem Biophys Res Commun. 497:683-8, 2018
PMID:
  29454970
Cerebrospinal fluid D-serine concentrations in major depressive disorder negatively correlate with depression severity.
Author(s):
  Ishiwata S, Hattori K, Sasayama D, Teraishi T, Miyakawa T, Yokota Y, Matsumura R, Nishikawa T, Kunugi H.
Source:
  J Affect Disord. 226:155-62, 2018
PMID:
  28985587
Arima Syndrome with specific variations of CEP290 gene; clinical comparison with Joubert syndrome and Joubert syndrome-related diseases.
Author(s):
  Itoh M, Ide S, Iwasaki Y, Saito T, Narita K, Dai H, Yamakura S, Furue T, Kitayama H, et al.
Source:
  Brain Dev 40:259-267, 2018
PMID:
  29217415
The relationship between circulating mitochondrial DNA and inflammatory cytokines in patients with major depression.
Author(s):
  Kageyama Y, Kasahara T, Kato M, Sakai S, Deguchi Y, Tani M, Kuroda K, Hattori K, Yoshida S, et al.
Source:
  J Affect Disord. 233:15-20, 2018
PMID:
  28633757
A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese patient
Author(s):
  Kubota A, Ishiura H, Mitsui J. Sakuishi K Iwata A, Yamamoto T, Nishino I, Tsuji S, Shimizu J,
Source:
  INTERNAL MEDICINE 57:877-882, 2018
PMID:
  29225264
Mitophagy in three cases of immune-mediated necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibodies: ultrastructural and immunohistochemical studies
Author(s):
  Matsubara S, Bokuda K, Asano Y, Morishima R, Sugaya K, Miyamoto K, Koide R, Komori T, Suzuki S, et al.
Source:
  NEUROMUSCULAR DISORDERS 28:283-288, 2018
PMID:
  29402601
Comparative analysis of cerebrospinal fluid metabolites in Alzheimer's disease and idiopathic normal pressure hydrocephalus in a Japanese cohort.
Author(s):
  Nagata Y, Hirayama A, Ikeda S, Shirahata A, Shoji F, Maruyama M, Kayano M, Bundo M, Hattori K, et al.
Source:
  Biomark Res. 6:5, 2018
PMID:
  29387418
Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial.
Author(s):
  Ohsawa Y, Hagiwara H, Nishimatsu S, Hirakawa A, Kamimura N, Ohtsubo H, Fukai Y, Murakami T, Koga Y, et al.
Source:
  J Neurol Neurosurgery Psychiatr (in press)
PMID:
  29666206
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion
Author(s):
  Pogoryelova O, Cammish P, Mansbach H, Argov Z, Nishino I, Skrinar A, Chan Y, Nafissi S, Shamshiri H, et al.
Source:
  NEUROMUSCULAR DISORDERS 28:158-168, 2018
PMID:
  29305133
New Criteria Needed for Antisynthetase Syndrome-Reply
Author(s):
  Suzuki S, Uruha A, Nishino I.
Source:
  JAMA Neurol 75:259-260, 2018
PMID:
  29255891
A 62-Year-Old Woman with A History of Muscle Pain and Skin Rash for 1 Month
Author(s):
  Tanboon J, Uruha A, Hamanaka K, Hasegawa J, Nishino I.
Source:
  Brain Pathol 28:121-122, 2018
PMID:
  29265633
(13)C-phenylalanine breath test and serum biopterin in schizophrenia, bipolar disorder and major depressive disorder.
Author(s):
  Teraishi T, Kajiwara M, Hori H, Sasayama D, Hidese S, Matsuo J, Ishida I, Kajiwara Y, Ozeki Y, et al.
Source:
  J Psychiatr Res. 99:142-50, 2018
PMID:
  29454221
A 31-Year-Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency
Author(s):
  Uruha A, Hayashi YK, Mori-Yoshimura M, Oya Y, Kanai M, Murata M, Nishino I.
Source:
  Brain Pathol 28:123-124, 2018
PMID:
  29265629
Low cocaine- and amphetamine-regulated transcript (CART) peptide levels in human cerebrospinal fluid of major depressive disorder (MDD) patients.
Author(s):
  Yoon HS, Hattori K, Sasayama D, Kunugi H.
Source:
  J Affect Disord. 232:134-8, 2018
PMID:
  29486339
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing
Author(s):
  Zhu W, Eto M, Mitsuhashi S, Takata K, Beck G, Sumi-Akamaru H, Mochizuki H, Sakoda S, Takahashi MP, et al.
Source:
  NEUROMUSCULAR DISORDERS 28:154-157, 2018
PMID:
  29307446

NCNPの2017年の発表、掲載論文に関する検索結果

Search results

Item: 41

No.	Publication

Re-evaluation of soluble APP-alpha and APP-beta in cerebrospinal fluid as potential biomarkers for early diagnosis of dementia disorders.
Author(s):
  Araki W, Hattori K, Kanemaru K, Yokoi Y, Omachi Y, Takano H, Sakata M, Yoshida S, Tsukamoto T, et al.
Source:
  Biomark Res. 5:28, 2017
PMID:
  29018524
Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in the GNE myopathy
Author(s):
  Cho A, Malicdan MCV, Miyakawa M, Nonaka I, Nishino I, Noguchi S.
Source:
  HUMAN MOLECULAR GENETICS 26:3081-3093, 2017
PMID:
  28505249
Pathological active mTOR mutation in brain malformation with intractable epilepsy leads to cell-autonomous migration delay.
Author(s):
  Hanai S, Sukigara S, Dai H, Owa T, Horike S, Otsuki T, Saito T, Nakagawa E, Ikegaya N, et al.
Source:
  Am J Pathol. (in press)
PMID:
  28427592
Respiratory chain complex disorganization impairs mitochondrial and cellular integrity: Phenotypic variation in cytochrome c oxidase deficiency.
Author(s):
  Hatakeyama H, Goto Y.
Source:
  Am J Pathol. 187(1):110-121. 2017.
PMID:
  27855277
Severe Glomerular Endothelial Injury Associated with a Short D4Z4 Repeat on Chromosome 4q35
Author(s):
  Hibino S, Takeda A, Nishino I, Iwata N, Nakano M, Tanaka K, Yamakawa S, Nagai T, Uemura O.
Source:
  INTERNAL MEDICINE 56:1849-1853, 2017
PMID:
  28717081
Cerebrospinal fluid neural cell adhesion molecule levels and their correlation with clinical variables in patients with schizophrenia, bipolar disorder, and major depressive disorder.
Author(s):
  Hidese S, Hattori K, Sasayama D, Miyakawa T, Matsumura R, Yokota Y, Ishida I, Matsuo J, Noda T, et al.
Source:
  Prog Neuropsychopharmacol Biol Psychiatry. 76:12-18. 2017.
PMID:
  28238731
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
Author(s):
  Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, et al.
Source:
  SCIENTIFIC REPORTS 7:3552-3552, 2017
PMID:
  28615637
TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy
Author(s):
  Ikeda T, Nakahara A, Nagano R, Utoyama M, Obara M, Moritake H, Uechi T, Mitsui J, Ishiura H, et al.
Source:
  JOURNAL OF HUMAN GENETICS 62:473-480, 2017
PMID:
  27928163
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome
Author(s):
  Inui T, Anzai M, Takezawa Y, Endo W, Kakisaka Y, Kikuchi A, Onuma A, Kure S, Nishino I, et al.
Source:
  JOURNAL OF HUMAN GENETICS 62:653-655, 2017
PMID:
  28148925
Plasma and cerebrospinal fluid G72 protein levels in schizophrenia and major depressive disorder.
Author(s):
  Ishiwata S, Hattori K, Sasayama D, Teraishi T, Miyakawa T, Yokota Y, Matsumura R, Yoshida F, Nishikawa T, et al.
Source:
  Psychiatry Res. 254:244-50, 2017
PMID:
  28477547
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy
Author(s):
  Ishiyama A, Sakai C, Matsushima Y, Noguchi S, Mitsuhashi S, Endo Y, Hayashi YK, Saito Y, Nakagawa E, et al.
Source:
  NEUROLOGY: GENETICS 3:e184-e184, 2017
PMID:
  28913435
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties
Author(s):
  Kadoya M, Ogata K, Suzuki M, Honma Y, Momma K, Yatabe K, Tamura T, Kaida K, Miyata N, et al.
Source:
  NEUROMUSCULAR DISORDERS 27:477-480, 2017
PMID:
  28214267
Plasma Nervonic Acid Is a Potential Biomarker for Major Depressive Disorder: A Pilot Study.
Author(s):
  Kageyama Y, Kasahara T, Nakamura T, Hattori K, Deguchi Y, Tani M, Kuroda K, Yoshida S, Goto YI, et al.
Source:
  Int J Neuropsychopharmacol. 21:207-15, 2018
PMID:
  29040586
Association of impaired neuronal migration with cognitive deficits in extremely preterm infants.
Author(s):
  Kubo K, Deguchi K, Nagai T, Ito Y, Yoshida K, Endo T , Benner S , Shan W , Kitazawa A, et al.
Source:
  JCI Insight 2:e88609, 2017
PMID:
  28515367
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.
Author(s):
  Liang WC, Uruha A, Suzuki S, Murakami N, Takeshita E, Chen WZ, Jong YJ, Endo Y, Komaki H, et al.
Source:
  Rheumatology (Oxford). 56(2): 287-293. Feb. 2017.
PMID:
  27818386
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
Author(s):
  Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, et al.
Source:
  Am J Hum Genet. 100(1):169-178. 2017.
PMID:
  28017374
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A
Author(s):
  Mori-Yoshimura M, Segawa K, Minami N, Oya Y, Komaki H, Nonaka I, Nishino I, Murata M.
Source:
  MUSCLE & NERVE 55:465-469, 2017
PMID:
  27500519
Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.
Author(s):
  Mukai M, Nagata E, Mizuma A, Yamano M, Sugaya K, Nishino I, Goto YI, Takizawa S.
Source:
  Intern Med. 56(1):95-99. 2017.
PMID:
  28050007
PTPRQ as a potential biomarker for idiopathic normal pressure hydrocephalus.
Author(s):
  Nagata Y, Bundo M, Sugiura S, Kamita M, Ono M, Hattori K, Yoshida S, Goto YI, Urakami K, et al.
Source:
  Mol Med Rep. 16:3034-40, 2017;
PMID:
  28714010
Aberrant Myokine Signaling in Congenital Myotonic Dystrophy
Author(s):
  Nakamori M, Hamanaka K, Thomas JD, Wang ET, Hayashi YK, Takahashi MP, Swanson MS, Nishino I, Mochizuki H.
Source:
  CELL REPORTS 21:1240-1252, 2017
PMID:
  29091763
Granuloma formation in a patient with GNE myopathy: A case report.
Author(s):
  Nakamura K, Hamaguchi T, Sakai K, Noto D, Ono K, Hayashi YK, Nishino I, Yamada M.
Source:
  Neuromuscul Disord. 27(2):183-184. 2017.
PMID:
  27919547
Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.
Author(s):
  Nishikawa A, Mitsuhashi S, Miyata N, Nishino I.
Source:
  J Med Genet. 54(2):104-110. 2017.
PMID:
  27600705
Skeletal Muscle Involvement in Antisynthetase Syndrome
Author(s):
  Noguchi E, Uruha A, Suzuki S, Hamanaka K, Ohnuki Y, Tsugawa J, Watanabe Y, Nakahara J, Shiina T, et al.
Source:
  JAMA NEUROLOGY 74:992-999, 2017
PMID:
  28586844
Plasma amino acid profile in major depressive disorder: Analyses in two independent case-control sample sets.
Author(s):
  Ogawa S, Koga N, Hattori K, Matsuo J, Ota M, Hori H, Sasayama D, Teraishi T, Ishida I, et al.
Source:
  J Psychiatr Res. 96:23-32, 2018
PMID:
  28950111
Surface electromyogram and muscle ultrasonography for detection of muscle fasciculations in pediatric peripheral neuropaty
Author(s):
  Oguri M, Saito Y, Okazaki T, Matsumura W, Ohno K, Togawa M, Fukuda C, Saito Y, Nishino I, et al.
Source:
  BRAIN & DEVELOPMENT 39:617-620, 2017
PMID:
  28318780
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan
Author(s):
  Okubo M, Goto K, Komaki H, Nakamura H, Mori-Yoshimura M, Hayashi YK, Mitsuhashi S, Noguchi S, Kimura E, et al.
Source:
  ORPHANET JOURNAL OF RARE DISEASES 12:149-149, 2017
PMID:
  28859693
Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome.
Author(s):
  Sasayama D, Hattori K, Ogawa S, Yokota Y, Matsumura R, Teraishi T, Hori H, Ota M, Yoshida S, et al.
Source:
  Hum Mol Genet. 26(1):44-51. 2017.
PMID:
  28031287
Integrated Diagnosis Project for Inflammatory Myopathies: An association between autoantibodies and muscle pathology
Author(s):
  Suzuki S, Uruha A, Suzuki N, Nishino I.
Source:
  AUTOIMMUNITY REVIEWS 16:693-700, 2017
PMID:
  28479486
Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions
Author(s):
  Takeshita E, Minami N, Minami K, Suzuki M, Awashima T, Ishiyama A, Komaki H, Nishino I, Sasaki M.
Source:
  NEUROMUSCULAR DISORDERS 27:569-573, 2017
PMID:
  28434908
What is the third serological marker associated with immune-mediated necrotizing myopathy?
Author(s):
  Tanaka T, Suzuki S, Nishino I, Hamaguchi Y, Fujimoto T.
Source:
  Scand J Rheumatol. 9:1-2. 2017.
PMID:
  28067601
Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy
Author(s):
  Thomas JD, Sznajder LJ, Bardhi O, Aslam FN, Anastasiadis ZP, Scotti MM, Nishino I, Nakamori M, Wang ET, et al.
Source:
  GENES & DEVELOPMENT 31:1122-1133, 2017
PMID:
  28698297
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.
Author(s):
  Tsunoda K, Yamashita T, Motokura E, Takahashi Y, Sato K, Takemoto M, Hishikawa N, Ohta Y, Nishikawa A, et al.
Source:
  J Neurol Sci. 373(2017):254-257. 2017.
PMID:
  28131200
Sarcoplasmic MxA expression: A valuable marker of dermatomyositis.
Author(s):
  Uruha A, Nishikawa A, Tsuburaya RS, Hamanaka K, Kuwana M, Watanabe Y, Suzuki S, Suzuki N, Nishino I.
Source:
  Neurology. 88(5):493-500. 2017.
PMID:
  28039312
Diagnosis of dermatomyositis: Autoantibody profile and muscle pathology
Author(s):
  Uruha A, Suzuki S, Nishino I.
Source:
  JOURNAL OF CLINICAL & EXPERIMENTAL NEUROIMMUNOLOGY 8:302-312, 2017
DOI:
  10.1111/cen3.12419
Author update: Sarcoplasmic MxA expression: A valuable marker of dermatomyositis
Author(s):
  Uruha A, Suzuki S, Nishino I.
Source:
  NEUROLOGY 89:215-215, 2017
PMID:
  28696934
Mitochondrial respiratory dysfunctjon disturbs neuronal and cardiac lineage commitment of human iPSCs.
Author(s):
  Yokota M, Hatakeyama H, Ono Y, Kanazawa M, Goto Y.
Source:
  Cell Death Dis. 8(1):e2551. 2017.
PMID:
  28079893
Relationships of Cerebrospinal Fluid Monoamine Metabolite Levels With Clinical Variables in Major Depressive Disorder.
Author(s):
  Yoon HS, Hattori K, Ogawa S, Sasayama D, Ota M, Teraishi T, Kunugi H.
Source:
  J Clin Psychiatry. 78:e947-e56, 2017
PMID:
  28749090
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5’UTR and founder allele.
Author(s):
  Zhu W, Mitsuhashi S, Yonekawa T, Noguchi S, Huei JCY, Nalini A, Preethish-Kumar V, Yamamoto M, Murakata K, et al.
Source:
  J Hum Genet. 62(2):159-166. 2017.
PMID:
  27829678
自己免疫性甲状腺疾患とシェーグレン症候群を合併している慢性ミオパチー型筋サルコイドーシスの1例：症例報告及び筋サルコイドーシス自験例の検討
Author(s):
  磯部　隆，森まどか，大矢　寧，齊藤祐子，村田美穂，西野一三，高橋祐二.
Source:
  臨床神経学 57:220-224, 2017
DOI:
  10.5692/clinicalneurol.cn-001012
顕著な左右非対称性の下肢遠位優位の筋委縮を呈したネマリンミオパチーの2症例
Author(s):
  水野由輝郎，森まどか，大矢寧，西川敦子，西野一三，髙橋祐二.
Source:
  臨床神経学 57:691-697, 2017
DOI:
  10.5692/clinicalneurol.cn-001024
筋ジストロフィーとの鑑別を要した，慢性経過の小児期発症抗HMGCR(3-hydroxy-3-methyl-glutaryl-CoA reductase) 抗体陽性懐死性ミオパチーの1例
Author(s):
  濵　由香，森まどか，小牧宏文，鈴木重明，上阪　等，西野一三，髙橋祐二.
Source:
  臨床神経学 57:567-572, 2017
DOI:
  10.5692/clinicalneurol.cn-001040

NCNPの2016年の発表、掲載論文に関する検索結果

Search results

Item: 33

No.	Publication

Possible association of Bifidobacterium and Lactobacillus in the gut microbiota of patients with major depressive disorder.
Author(s):
  Aizawa E, Tsuji H, Asahara T, Takahashi T, Teraishi T, Yoshida S, Ota M, Koga N, Hattori K, et al.
Source:
  J Affect Disord. 202:254-7. 2016.
PMID:
  27288567
An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles.
Author(s):
  Furuta M, Sumi-Akamaru H, Takahashi MP, Hayashi YK, Nishino I, Mochizuki H.
Source:
  Neuromuscul Disord. 26(9):593-597. 2016.
PMID:
  27220833
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.
Author(s):
  Hamanaka K, Goto K, Arai M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Mitsuhashi S, Nishino I.
Source:
  Neuromuscul Disord. 26(4-5):300-308. Apr-May. 2016
PMID:
  27061275
Muscle from a 20-week-old myotubular myopathy fetus is not myotubular.
Author(s):
  Hamanaka K, Inami I, Wada T, Mitsuhashi S, Noguchi S, Hayashi YK, Nishino I.
Source:
  Neuromuscul Disord. 26(3):234-235. 2016
PMID:
  26898940
Heteroplasmic mitochondrial DNA mutations and mitochondrial diseases: Toward iPSC-based disease modeling, drug discovery, and regenerative therapeutic
Author(s):
  Hatakeyama H, Goto Y.
Source:
  Stem Cells. 34(4):801-808. 2016.
PMID:
  26850516
Blood-based gene expression signatures of medication-free outpatients with major depressive disorder: integrative genome-wide and candidate gene analyses.
Author(s):
  Hori H, Sasayama D, Teraishi T, Yamamoto N, Nakamura S, Ota M, Hattori K, Kim Y, Higuchi T, et al.
Source:
  Sci Rep. 6:18776. 2016.
PMID:
  26728011
Chronic Myopathy Associated With Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy.
Author(s):
  Ikeda K, Mori-Yoshimura M, Yamamoto T, Sonoo M, Suzuki S, Kondo Y, Nakamura H, Mitsuhashi K, Maeda MH, et al.
Source:
  J Clin Neuromuscul Dis. 17(4):197-206. 2016.
PMID:
  27224434
Pyruvate improved insulin secretion status in a mitochondrial diabetes mellitus patient.
Author(s):
  Inoue T, Murakami N, Ayabe T, Oto Y, Nishino I, Goto YI, Koga Y, Sakuta R.
Source:
  J Clin Endocrinol Metab. 101(5):1924-6. 2016.
PMID:
  26885883
Magnetic resonance umaging findings in Leigh syndrome with a novel compound heterozygous SURF1 gene mutation.
Author(s):
  Kim Y, Koide R, Isozaki E, Goto Y.
Source:
  Neurol Clin Neurosci 4(1):34-35. 2016.
DOI:
  10.1111/ncn3.12033
Calcium Dyshomeostasis in Tubular Aggregate Myopathy.
Author(s):
  Lee JM, Noguchi S.
Source:
  Int J Mol Sci. 17(11):E1952. 2016.
PMID:
  27879676
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.
Author(s):
  Liang WC, Chou PC, Hung CC, Su YN, Kan TM, Chen WZ, Hayashi YK, Nishino I, Jong YJ.
Source:
  J Neurol Sci. 26(3): 234-235. 2016
PMID:
  26944168
Reactive oxygen species stimulate mitochondrial allele segregation toward homoplasmy in human cells.
Author(s):
  Ling F, Niu R, Hatakeyama H, Goto Y, Shibata T, Yoshida M.
Source:
  Mol Biol Cell. 27(5):1684-1693. 2016
PMID:
  27009201
Nuclear inclusions mimicking poly (A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene.
Author(s):
  Matsubara S, Shimizu T, Komori T, Mori-Yoshimura M, Minami N, Hayashi YK.
Source:
  Neuromuscul Disord. 26(7):436-440. 2016.
PMID:
  27209344
Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.
Author(s):
  Matsuoka T, Miwa Y, Tajika M, Sawada M, Fujimaki K, Soga T, Tomita H, Uemura S, Nishino I, et al.
Source:
  Mol Genet Metab Rep. 9(2016): 98-105. 2016
PMID:
  27896132
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Author(s):
  Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, et al.
Source:
  Am J Hum Genet. 99(4):950-961. 2016.
PMID:
  27666374
Low dose resveratrol ameloorates mitochondrial respiratory dysfunction and enhances cellular reprogramming.
Author(s):
  Mizuguchi Y, Hatakeyama H, Sueoka K, Tanaka M, Goto Y.
Source:
  Mitochondrion. 34:43-48. 2017.
PMID:
  28093354
Case of McLeod syndrome with a novel genetic mutation.
Author(s):
  Narumi S, Natori T, Miyazawa H, Kato T, Yonezawa H, Nishino I, Nakamura M, Sano A, Terayama Y.
Source:
  Neurology and Clinical Neuroscience. 4(3):115-117. 2016.
DOI:
  10.1111/ncn3.12042
Association of body mass index-related single nucleotide polymorphisms with psychiatric disease and memory performance in a Japanese population.
Author(s):
  Ninomiya-Baba M, Matsuo J, Sasayama D, Hori H, Teraishi T, Ota M, Hattori K, Noda T, Ishida I, et al.
Source:
  Acta Neuropsychiatr. 7:1-10. 2016
PMID:
  27923415
Respiratory and cardiac function in Japanese patients with dysferlinopathy.
Author(s):
  Nishikawa A, Mori-Yoshimura M, Segawa K, Hayashi YK, Takahashi T, Saito Y, Nonaka I, Krahn M, Levy N, et al.
Source:
  Muscle Nerve. 53(3):394-401. 2016.
PMID:
  26088049
HLA-DRB1 alleles in Immune-mediated necrotizing myopathy.
Author(s):
  Ohnuki Y, Suzuki S, Shiina T, Uruha A, Watanabe Y, Suzuki S, Izumi S, Nakahara J, Hamanaka K, et al.
Source:
  Neurology. 87(18):1954-1955. 2016.
PMID:
  27581220
Genetic diagnosis of Duchenne/ Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Author(s):
  Okubo M, Minami N, Goto K, Goto YI, Noguchi S, Mitsuhashi S, Nishino I.
Source:
  J Hum Genet. 61(6):483-9. 2016.
PMID:
  26911353
Effects of ankyrin 3 gene risk variants on brain structures in patients with bipolar disorder and healthy subjects.
Author(s):
  Ota M, Hori H, Sato N, Yoshida F, Hattori K, Teraishi T, Kunugi H.
Source:
  Psychiatry Clin Neurosci. 70(11):498-506. 2016.
PMID:
  27488254
Plasma Metabolites Predict Severity of Depression and Suicidal Ideation in Psychiatric Patients-A Multicenter Pilot Analysis.
Author(s):
  Setoyama D, Kato TA, Hashimoto R, Kunugi H, Hattori K, Hayakawa K, Sato-Kasai M, Shimokawa N, Kaneko S, et al.
Source:
  PLoS One. 11(12):e0165267. 2016.
PMID:
  27984586
Early onset of cardiomyopathy and intellectual diability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.
Author(s):
  Sugie K, Yoshizawa H, Onoue K, Nakanishi Y, Eura N, Ogawa M, Nakano T, Sakaguchi Y, Hayashi YK, et al.
Source:
  Neuropathology. 36(6): 561-565. 2016.
PMID:
  27145725
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
Author(s):
  Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, et al.
Source:
  Brain Dev. 38(6):571-80. 2016.
PMID:
  26774704
Multicenter questionnaire survey for sporadic inclusion body myositis in Japan.
Author(s):
  Suzuki N, Mori-Yoshimura M, Yamashita S, Nakano S, Murata KY, Inamori Y, Matsui N, Kimura E, Kusaka H, et al.
Source:
  Orphanet J Rare Dis. 11(1):146. 2016.
PMID:
  27821140
Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation.
Author(s):
  Takayama K, Mitsuhashi S, Shin JY, Tanaka R, Fujii T, Tsuburaya R, Mukaida S, Noguchi S, Nonaka I, et al.
Source:
  Neuromuscul Disord. 26(9):604-609. 2016.
PMID:
  27460346
Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome.
Author(s):
  Termglinchan T, Hisamatsu S, Ohmori J, Suzumura H, Sumitomo N, Imataka G, Arisaka O, Murakami N, Minami N, et al.
Source:
  Neurol Genet. 2(5): e95. eCollection. Oct. 2016
PMID:
  27660820
Cell-Surface Protein Profiling Identifies Distinctive Markers of Progenitor Cells in Human Skeletal Muscle.
Author(s):
  Uezumi A, Nakatani M, Ikemoto-Uezumi M, Yamamoto N, Morita M, Yamaguchi A, Yamada H, Kasai T, Masuda S, et al.
Source:
  Stem Cell Reports. 7(2):263-278. 2016.
PMID:
  27509136
Perifascicular necrosis in anti-synthetase syndrome beyond anti-Jo-1.
Author(s):
  Uruha A, Suzuki S, Suzuki N, Nishino I.
Source:
  Brain. 139(Pt 9):e50. 2016.
PMID:
  27267378
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
Author(s):
  Van den Boogaard ML, Lemmers RJ, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RF, et al.
Source:
  Am J Hum Genet. 98(5):1020-1029. 2016.
PMID:
  27153398
Clinical features and prognosis in anti-SRP and anti-HMGCR necrotizing myopathy.
Author(s):
  Watanabe Y, Uruha A, Suzuki S, Nakahara J, Hamanaka K, Takayama K, Suzuki N, Nishino I.
Source:
  J Neurol Neurosurg Psychiatry. 87(10):1038-1044. 2016.
PMID:
  27147697
DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.
Author(s):
  Zaha K, Matsumoto H, Itoh M, Saitsu H, Kato K, Kato M, Ogata S, Murayama K, Kishita Y, et al.
Source:
  Clin Genet. 90(5):472-474. 2016.
PMID:
  27301544

NCNPの2015年の発表、掲載論文に関する検索結果

Search results

Item: 36

No.	Publication

DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan
Author(s):
  Dong M, Noguchi S, Endo Y, Hayashi YK, Yoshida S, Nonaka I, Nishino I.
Source:
  Neurology. 84(3).273-279. 2015.
PMID:
  25503980
Milder forms of muscular dystrophy associated with POMGN2 mutations.
Author(s):
  Endo Y, Dong M, Noguchi S, Ogawa M, Hayashi YK, Kuru S, Sugiyama K, Nagai S, Ozasa S, et al.
Source:
  Neurol Genet. 1(4): e33. 2015.
PMID:
  27066570
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels
Author(s):
  Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Miyatake S, Murakami N, Tanaka S, Yamashita S, et al.
Source:
  HUMAN MOLECULAR GENETICS. 24(3):637-648. 2015.
PMID:
  25227914
Two siblings with cortical dysplasias: clinico-electroencephalographic features.
Author(s):
  Fukasawa T, Kubota T, Maruyama S, Saito Y, Itoh M, Kakita A, Sugai K, Otsuki T, Kato M, et al.
Source:
  Pediatr Int. 57:472-475. 2015.
PMID:
  26012518
Property of Lysosomal Storage Disease Associated with Midbrain Pathology in the Central Nervous System of Lamp-2－Deficient Mice.
Author(s):
  Furuta A, Kikuchi H, Fujita H, Yamada D, Fujiwara Y, Kabuta T, Nishino I, Wada K, Uchiyama Y.
Source:
  Am J Pathol. 185(6):1713-1723. 2015.
PMID:
  25998250
The role of ARX in human pancreatic endocrine specification
Author(s):
  Gage BK, Asadi A, Baker RK, Webber TD, Wang R, Itoh M, Hayashi M, Miyata R, Akashi T, et al.
Source:
  PLoS One. 10(12):e0144100. 2015.
PMID:
  26633894
Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).
Author(s):
  Hatakeyama H, Katayama A, Komaki H, Nishino I, Goto Y.
Source:
  Acta Neuropathol Commun. 3:52. 2015.
PMID:
  26297375
Increased cerebrospinal fluid fibrinogen in major depressive disorder.
Author(s):
  Hattori K, Ota M, Sasayama D, Yoshida S, Matsumura R, Miyakawa T, Yokota Y, Yamaguchi S, Noda T, et al.
Source:
  Sci Rep. 17:11412. 2015.
PMID:
  26081315
Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH.
Author(s):
  Ito Y, Inoue N, Inoue YU, Nakamura S, Matsuda Y, Inagaki M, Ohkubo T, Asami J, Terakawa YW, et al.
Source:
  Neurobiol Dis 80:1-14. 2015
PMID:
  25959061
Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation.
Author(s):
  Izumi R, Warita H, Niihori T, Takahashi T, Tateyama M, Suzuki N, Nishiyama A, Shirota M, Funayama R, et al.
Source:
  Neurol Genet. 1(3): e23. 2015
PMID:
  27066560
Case of dynamin 2 mutation-related sporadic centronuclear myopathy with peripheral neuropathy.
Author(s):
  Kawasaki Y, Naba I, Azuma S, Yaka K, Moriya M, Nakano M, Nishino I, Tatsumi C.
Source:
  Neurology and Clinical Neuroscience. 3(4):131-133. 2015.
DOI:
  10.1111/ncn3.162
Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event
Author(s):
  Kawase K, Nishino I, Sugimoto M, Kouwaki M, Koyama N, Yokochi K.
Source:
  BRAIN & DEVELOPMENT. 37(2):265-269. 2015.
PMID:
  24787270
Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state.
Author(s):
  Kawase K, Nishino I, Sugimoto M, Togawa T, Sugiura T, Kouwaki M, Kibe T, Koyama N, Yokochi K.
Source:
  Brain Dev. 37(9):887-890. 2015.
PMID:
  25721947
First Japanese case of muscular dystrophy caused by a mutation in the anoctamin 5 gene.
Author(s):
  Kida H, Sano K, Yorita A, Miura S, Ayabe M, Hayashi YK, Nishino I, Taniwaki T.
Source:
  Neurology and Clinical Neuroscience. 3(4):150-152. 2015.
DOI:
  10.1111/ncn3.175
Identification of Rare, Single-Nucleotide Mutations in NDE1 and Their Contributions to Schizophrenia Susceptibility.
Author(s):
  Kimura H, Tsuboi D, Wang C, Kushima I, Koide T, Ikeda M, Iwayama Y, Toyota T, Yamamoto N, et al.
Source:
  Schizophr Bull. 41:744-753. 2015.
PMID:
  25332407
Biochemical markers subtyping major deoressive disorder
Author(s):
  Kunugi H,Hori H, Ogawa S.
Source:
  Psychiatry and Clinical Neurosciences. 69(10):597-608. 2015.
PMID:
  25825158
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.
Author(s):
  Liang WC, Zhu WH, Mitsuhashi S, Noguchi S, Sacher M, Ogawa M, Shin HH, Jong YJ, Nishino I.
Source:
  Skeletal Muscle. 5:29.eCollection. 2015.
PMID:
  26322222
Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair.
Author(s):
  Matsuda C, Kiyosue K, Nishino I, Hayashi YK.
Source:
  PLoS Curr. pii:ecurrents.md.5865add2d766f39a0e0411d38a7ba09c. 2015.
PMID:
  26579332
Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.
Author(s):
  Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, Yatsuka Y, Okazaki Y, et al.
Source:
  Brain Dev. 37:719-724. 2015.
PMID:
  25466440
Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.
Author(s):
  Munteanu I, Ramachandran N, Ruggieri A, Awaya T, Nishino I, Minassian BA.
Source:
  Neurology. 84(16):1714-1716. 2015.
PMID:
  25817839
Reduced cerebrospinal fluid ethanolamine concentration in major depressive disorder.
Author(s):
  Ogawa S, Hattori K, Sasayama D, Yokota Y, Matsumura R, Matsuo J, Ota M, Hori H, Teraishi T, et al.
Source:
  Sci Rep. 5:7796. 2015.
PMID:
  25589364
ABLIM1 splicing is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1
Author(s):
  Ohsawa N, Koebis M, Mitsuhashi H, Nishino I, Ishiura S.
Source:
  GENES TO CELLS 20(2). 121-134. 2015.
PMID:
  25403273
A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.
Author(s):
  Omata T, Nagai J, Shimbo H, Koizume S, Miyagi Y, Kurosawa K, Yamashita S, Osaka H, Inoue K.
Source:
  Brain Dev. 38(6):581-4. 2015.
PMID:
  26725305
Pathophysiology and emerging therapeutic strategies in Pelizaeus-Merzbacher Disease.
Author(s):
  Osaka H, Inoue K.
Source:
  Expert Opinion on Orphan Drugs. 3:1447-1459. 2015.
DOI:
  10.1517/21678707.2015.1106315
ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.
Author(s):
  Sakai C, Yamaguchi S, Sasaki M, Miyamoto Y, Matsushima Y, Goto Y.
Source:
  Hum Mut. 36(2):232-9. 2015
PMID:
  25393721
Ophthalmoplegia in congenital neuromuscular disease with uniform type 1 fiber.
Author(s):
  Sanmaneechai O, Likasitwattanakul S, Sangruchi T, Nishino I.
Source:
  Brain Dev. 37(4):459-462. 2015.
PMID:
  25112543
Increased protein and mRNA expression of resistin after dexamethasone administration.
Author(s):
  Sasayama D, Hori H, Nakamura S, Yamamoto N, Hattori K, Teraishi T, Ota M, Kunugi H.
Source:
  Horm Metab Res. 47:433-438. 2015
PMID:
  25011018
Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients.
Author(s):
  Suzuki S, Nishikawa A, Kuwana M, Nishimura H, Watanabe Y, Nakahara J, Hayashi YK, Suzuki N, Nishino I.
Source:
  Orphanet J Rare Dis. 10(1):61. 2015.
PMID:
  25963141
Kyphoscoliosis and easy fatigability in a 14-year-old boy
Author(s):
  Tanboon J, Hayashi YK, Nishino I, Sangruchi T.
Source:
  Neuropathology. 35(1).91-3. 2015.
PMID:
  25168271
2 Month-Old Male with Hypotonia.
Author(s):
  Tanboon J, Viravan S, Hayashi YK, Nishino I, Sangruchi T.
Source:
  Brain Pathol. 25(5):651-652. 2015.
PMID:
  26276028
Family with centronuclear myopathy as a result of a novel p.R369G DNM2 mutation.
Author(s):
  Toyooka K, Kubo K, Fujimura H, Sakoda S, Tominaga K, Nishino I.
Source:
  Neurology and Clinical Neuroscience. 3(4):161-162. 2015.
DOI:
  10.1111/ncn3.176
miR-199a Links MeCP2 with mTOR Signaling and Its Dysregulation Leads to Rett Syndrome Phenotypes
Author(s):
  Tsujimura K, Irie K, Nakashima H, Egashira Y, Fukao Y, Fujiwara M, Itoh M, Uesaka M, Imamura T, et al.
Source:
  Cell Reports. 12:1887-1901. 2015.
PMID:
  26344767
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
Author(s):
  Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, et al.
Source:
  J Neurol Neurosurg Psychiatry. 86(5):483-489. 2015.
PMID:
  25253871
Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan
Author(s):
  Wang CH, Liang WC, Minami N, Nishino I, Jong YJ.
Source:
  PEDIATRICS AND NEONATOLOGY 56(1).62-65. 2015.
PMID:
  23597518
Mitochondrial respiratory dysfunction caused by a heteroplasmic mitochondrial DNA mutation blocks cellular reprogramming.
Author(s):
  Yokota M, Hatakeyama H, Okabe S, Ono Y, Goto Y.
Source:
  Hum Mol. Genet. 24:4698-4709. 2015
PMID:
  26025377
Functional analysis of SERCA1b, a highly expressed SERCA1 variant in myotonic dystrophy type 1 muscle.
Author(s):
  Zhao Y, Ogawa H, Yonekura SI, Mitsuhashi H, Mitsuhashi S, Nishino I, Toyoshima C, Ishiura S.
Source:
  Biochim Biophys Acta. 1852(10):2042-2047. 2015.
PMID:
  26170059

NCNPの2014年の発表、掲載論文に関する検索結果

Search results

Item: 25

No.	Publication

Absence of beta-amyloid deposition in the central nervous system of a transgenic mouse model of distal myopathy with rimmed vacuoles
Author(s):
  Anada RP, Wong KT, Malicdan MC, Goh KJ, Hayashi YK, Nishino I, Noguchi S.
Source:
  AMYLOID. 21(2):138-9. 2014.
PMID:
  24601867
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)
Author(s):
  Cho A, Hayashi YK, Monma K, Oya Y, Noguchi S, Nonaka I, Nishino I.
Source:
  JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 85(8):914-917. 2014.
PMID:
  24027297
A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles
Author(s):
  Fujii T, Hayashi S, Kawamura N, Higuchi MA, Tsugawa J, Ohyagi Y, Hayashi YK, Nishino I, Kira JI.
Source:
  JOURNAL OF THE NEUROLOGICAL SCIENCES. 343(1-2):206-10. 2014.
PMID:
  24928078
Effect of the common functional FKBP5 variant (rs1360780) on the hypothalamic-pituitary-adrenal axis and peripheral blood gene expression
Author(s):
  Fujii T, Hori H, Ota M, Hattori K, Teraishi T, Sasayama D, Yamamoto N, Higuchi T, Kunugi H.
Source:
  Psychoneuroendocrinology. 42:89-97. 2014.
PMID:
  24636505
MELAS phenotype associated with m3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene
Author(s):
  Goto M, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nishino I, Goto Y.
Source:
  Brain Dev. 36(2):180-2. 2014.
PMID:
  23582502
A nationwide survey on marinesco-sjogren syndrome in Japan
Author(s):
  Goto M, Okada M, Komaki H, Sugai K, Sasaki M, Noguchi S, Nonaka I, Nishino I, Hayashi YK.
Source:
  ORPHANET JOURNAL OF RARE DISEASES. 9(1):58. 2014
PMID:
  24755310
Psychological coping in depressed outpatients: association with cortisol response to the combined dexamethasone/CRH test
Author(s):
  Hori H, Teraishi T, Ota M, Hattori K, Matsuo J, Kinoshita Y, Ishida I, Nagashima A, Koga N, et al.
Source:
  J Affect Disord. 152-154:441-7. 2014.
PMID:
  24210627
Cognitive effects of the ANK3 risk variants in patients with bipolar disorder and healthy individuals
Author(s):
  Hori H, Yamamoto N, Teraishi T, Ota M, Fujii T, Sasayama D, Matsuo J, Kinoshita Y, Hattori K, et al.
Source:
  J Affect Disord. 158:90-6. 2014.
PMID:
  24655771
GNE myopathy: New name and new mutation nomenclature
Author(s):
  Huizing M, Carrillo-Carrasco N, Malicdan MC, Noguchi S, Gahl WA, Mitrani-Rosenbaum S, Argov Z, Nishino I.
Source:
  NEUROMUSCULAR DISORDERS. 24(5):387-389. 2014.
PMID:
  24685570
Congenital fiber type disproportion myopathy caused by LMNA mutations
Author(s):
  Kajino S, Ishihara K, Goto K, Ishigaki K, Noguchi S, Nonaka I, Osawa M, Nishino I, Hayashi YK.
Source:
  JOURNAL OF THE NEUROLOGICAL SCIENCES. 340(1-2):94-98. 2014.
PMID:
  24642510
Lack of genetic association between TREM2 and late-onset Alzheimer’s disease in a Japanese　population
Author(s):
  Miyashita A,Wen Y,Kitamura N,Matsubara E,Kawarabayashi T,Shoji M,Tomita N, Furukawa K,Arai H, et al.
Source:
  Journal of Alzheimer's Disease. 41(4):1031-1038. 2014.
PMID:
  24762945
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy
Author(s):
  Miyatake S, Koshimizu E, Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, et al.
Source:
  NEUROMUSCULAR DISORDERS. 24(7):642-647. 2014.
PMID:
  24852243
Nationwide patient registry for GNE myopathy in Japan
Author(s):
  Mori-Yoshimura M, Hayashi YK, Yonemoto N, Nakamura H, Murata M, Takeda SI, Nishino I, Kimura E.
Source:
  ORPHANET JOURNAL OF RARE DISEASES. 9:150. 2014.
PMID:
  25303967
GNE myopathy: A prospective natural history study of disease progression
Author(s):
  Mori-Yoshimura M, Oya Y, Yajima H, Yonemoto N, Kobayashi Y, Hayashi YK, Noguchi S, Nishino I, Murata M.
Source:
  NEUROMUSCULAR DISORDERS. 24(5):380-386. 2014.
PMID:
  24656604
A primigravida with very-long-chain acyl-CoA dehydrogenase deficiency
Author(s):
  Murata KY, Sugie H, Nishino I, Kondo T, Ito H.
Source:
  Muscle Nerve. 49(2):295-6. 2014.
PMID:
  23966064
Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblast
Author(s):
  Noguchi S, Ogawa M, Kawahara G, Malicdan MC, Nishino I.
Source:
  MOLECULAR THERAPY-NUCLEIC ACIDS. 3:e171. 2014
PMID:
  24959844
Plasma L-tryptophan concentration in major depressive disorder: new data and meta-analysis.
Author(s):
  Ogawa S, Fujii T, Koga N, Hori H, Teraishi T, Hattori K, Noda T, Higuchi T, Motohashi N, et al.
Source:
  Journal of Clinical Psychiatry. 75(9):e906-e915. 2014.
PMID:
  25295433
Multiple deletions in mitochondrial DNA in a patient with progressive external ophthaloplegia, leukoencephalopathy and hypogonadism.
Author(s):
  Ohnuki Y, Takahashi K, Iijima E, Takahashi W, Suzuki S, Ozaki Y, Kitao R, Mihara M, Ishihara T, et al.
Source:
  Inter Med. 53:1365-1369. 2014
PMID:
  24930659
Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction
Author(s):
  Ojima K, Ono Y, Hata S, Noguchi S, Nishino I, Sorimachi H.
Source:
  GENES TO CELLS. 19(11):830-841. 2014.
PMID:
  25252031
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation
Author(s):
  Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto YI, et al.
Source:
  JOURNAL OF HUMAN GENETICS. 59(10):581-3. 2014.
PMID:
  25102098
ITIH3 polymorphism may confer susceptibility to psychiatric disorders by altering the expression levels of GLT8D1
Author(s):
  Sasayama D, Hori H, Yamamoto N, Nakamura S, Teraishi T, Tatsumi M, Hattori K, Ota M, Higuchi T, et al.
Source:
  J Psychiatr Res. 50:79-83. 2014.
PMID:
  24373612
Association between a C8orf13-BLK polymorphism and polymyositis/dermatomyositis in the Japanese population: an additive effect with STAT4 on disease susceptibility
Author(s):
  Sugiura T, Kawaguchi Y, Goto K, Hayashi Y, Gono T, Furuya T, Nishino I, Yamanaka H.
Source:
  PLoS One. 9(3):e90019. 2014.
PMID:
  24632671
Clinical and histological findings associated with autoantibodies detected by RNA immunoprecipitation in inflammatory myopathies
Author(s):
  Suzuki S, Yonekawa T, Kuwana M, Hayashi YK, Okazaki Y, Kawaguchi Y, Suzuki N, Nishino I.
Source:
  JOURNAL OF NEUROIMMUNOLOGY. 274(1-2):202-208. 2014.
PMID:
  25064497
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice
Author(s):
  Yonekawa T, Malicdan MC, Cho A, Hayashi YK, Nonaka I, Mine T, Yamamoto T, Nishino I, Noguchi S.
Source:
  BRAIN. 137(10):2670-2679. 2014.
PMID:
  25062695
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Author(s):
  Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, et al.
Source:
  THE JOURNAL OF CLINICAL INVESTIGATION. 124(11):4693-4708. 2014.
PMID:
  25250574

NCNPの2013年の発表、掲載論文に関する検索結果

Search results

Item: 23

No.	Publication

Lack of association of EGR2 variants with bipolar disorder in Japanese population
Author(s):
  Balan S, Yamada K, Iwayama Y, Toyota T, Ohnishi T, Maekawa M, Toyoshima M, Iwata Y, Suzuki K, et al.
Source:
  Gene. 526(2):246-50. 2013.
PMID:
  23747400
Intranuclear rods myopathy with autonomic dysfunction
Author(s):
  Chou PC, Liang WC, Nonaka I, Mitsuhashi S, Nishino I, Jong YJ.
Source:
  Brain Dev. 35(7):686-9. 2013.
PMID:
  23102861
An association analysis of the cardiomyopathy-associated 5 (CMYA5) gene with schizophrenia in a Japanese population
Author(s):
  Furukawa M, Tochigi M, Otowa T, Arinami T, Inada T, Ujike H, Watanabe Y, Iwata N, Itokawa M, et al.
Source:
  Psychiatr Genet. 23(4):179-80. 2013.
PMID:
  23528614
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Author(s):
  Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, et al.
Source:
  Am J Hum Genet. 93(6):1108-17. 2013.
PMID:
  24268659
In vitro circadian period is associated with circadian/sleep preference
Author(s):
  Hida A, Kitamura S, Ohsawa Y, Enomoto M, Katayose Y, Motomura Y, Moriguchi Y, Nozaki K, Watanabe M, et al.
Source:
  Sci Rep. 3:2074. 2013.
PMID:
  23797865
Relationship of temperament and character with cortisol reactivity to the combined dexamethasone/CRH test in depressed outpatients
Author(s):
  Hori H, Teraishi T, Sasayama D, Hattori K, Hashikura M, Higuchi T, Kunugi H.
Source:
  J Affect Disord. 147(1-3):128-36. 2013.
PMID:
  23178186
Unusual exocrine complication of pancreatitis in mitochondrial disease
Author(s):
  Ishiyama A, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Itagaki Y, Matsuzaki K, Nakura M, et al.
Source:
  Brain Dev. 35(7):654-9. 2013.
PMID:
  23182449
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations
Author(s):
  Kakisaka Y, Haginoya K, Takahashi Y, Ochiai T, Fujiwara I, Kikuchi A, Wakusawa K, Kobayashi S, Kikuchi H, et al.
Source:
  Am J Med Genet A. 161A(1):234-5. 2013.
PMID:
  23239586
Elevated urinary beta2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy
Author(s):
  Kurashige T, Takahashi T, Yamazaki Y, Nagano Y, Kondo K, Nakamura T, Yamawaki T, Tsuburaya R, Hayashi YK, et al.
Source:
  Neuromuscul Disord. 23(11):911-6. 2013.
PMID:
  23850239
Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy
Author(s):
  Matsuura T, Kurosaki T, Omote Y, Minami N, Hayashi YK, Nishino I, Abe K.
Source:
  J Hum Genet. 58(8):564-5. 2013.
PMID:
  23677060
Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase beta
Author(s):
  Mitsuhashi S, Nishino I.
Source:
  Curr Opin Neurol. 26(5):536-43. 2013.
PMID:
  23945283
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation
Author(s):
  Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, et al.
Source:
  Hum Mutat. 34(3):446-52. 2013.
PMID:
  23281071
Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)
Author(s):
  Mori-Yoshimura M, Oya Y, Hayashi YK, Noguchi S, Nishino I, Murata M.
Source:
  Neuromuscul Disord. 23(1):84-8. 2013.
PMID:
  23127962
Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: a case report
Author(s):
  Motoki T, Fukuda M, Nakano T, Matsukage S, Fukui A, Akiyoshi S, Hayashi YK, Ishii E, Nishino I.
Source:
  Neuromuscul Disord. 23(11):917-21. 2013.
PMID:
  24011703
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood
Author(s):
  Murakami N, Hayashi YK, Oto Y, Shiraishi M, Itabashi H, Kudo K, Nishino I, Nonaka I, Nagai T.
Source:
  Neuromuscul Disord. 23(5):441-4. 2013.
PMID:
  23489663
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
Author(s):
  Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, et al.
Source:
  Am J Hum Genet. 93(1):6-18. 2013.
PMID:
  23746549
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
Author(s):
  Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, et al.
Source:
  Nat Genet. 45(4):445-9. 2013.
PMID:
  23435086
Genome-wide association study of schizophrenia using microsatellite markers in the Japanese population
Author(s):
  Shibata H, Yamamoto K, Sun Z, Oka A, Inoko H, Arinami T, Inada T, Ujike H, Itokawa M, et al.
Source:
  Psychiatr Genet. 23(3):117-23. 2013.
PMID:
  23474461
Juvenile autophagic vacuolar myopathy - a new entity or variant?
Author(s):
  Stenzel W, Nishino I, von Moers A, Kadry MA, Glaeser D, Heppner FL, Goebel HH.
Source:
  Neuropathol Appl Neurobiol. 39(4):449-53. 2013.
PMID:
  23324055
Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients
Author(s):
  Takeuchi F, Yonemoto N, Nakamura H, Shimizu R, Komaki H, Mori-Yoshimura M, Hayashi YK, Nishino I, Kawai M, et al.
Source:
  J Neurol. 260(12):3023-9. 2013.
PMID:
  24057148
Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults
Author(s):
  Teraishi T, Sasayama D, Hori H, Yamamoto N, Fujii T, Matsuo J, Nagashima A, Kinoshita Y, Hattori K, et al.
Source:
  Behav Brain Funct. 9:30. 2013.
PMID:
  23898865
Replication in a Japanese population that a MIR30E gene variation is associated with schizophrenia
Author(s):
  Watanabe Y, Iijima Y, Egawa J, Nunokawa A, Kaneko N, Arinami T, Ujike H, Inada T, Iwata N, et al.
Source:
  Schizophr Res. 150(2-3):596-7. 2013.
PMID:
  24025694
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy
Author(s):
  Yonekawa T, Komaki H, Okada M, Hayashi YK, Nonaka I, Sugai K, Sasaki M, Nishino I.
Source:
  J Neurol Neurosurg Psychiatry. 84(9):982-8. 2013.
PMID:
  23572247

NCNPの2012年の発表、掲載論文に関する検索結果

Search results

Item: 34

No.	Publication

Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly
Author(s):
  Arai A, Saito T, Hanai S, Sukigara S, Nabatame S, Otsuki T, Nakagawa E, Takahashi A, Kaneko Y, et al.
Source:
  Brain Res. 1470:89-97. 2012.
PMID:
  22759905
Misfolded SOD1 forms high-density molecular complexes with synaptic molecules in mutant SOD1-linked familial amyotrophic lateral sclerosis cases
Author(s):
  Araki T, Nagano S, Tateno M, Kaido M, Ogata K, Arima K.
Source:
  J Neurol Sci. 314(1-2):92-6. 2012.
PMID:
  22088212
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
Author(s):
  Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, et al.
Source:
  Neurogenetics. 13(2):115-24. 2012.
PMID:
  22371254
Association between the functional polymorphism (C3435T) of the gene encoding P-glycoprotein (ABCB1) and major depressive disorder in the Japanese population
Author(s):
  Fujii T, Ota M, Hori H, Sasayama D, Hattori K, Teraishi T, Yamamoto N, Hashikura M, Tatsumi M, et al.
Source:
  J Psychiatr Res. 46(4):555-9. 2012.
PMID:
  22306099
A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement
Author(s):
  Hattori A, Komaki H, Kawatani M, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Hayashi YK, et al.
Source:
  Neuromuscul Disord. 22(2):149-51. 2012.
PMID:
  22240398
Blood CADPS2DeltaExon3 expression is associated with intelligence and memory in healthy adults
Author(s):
  Hattori K, Tanaka H, Yamamoto N, Teraishi T, Hori H, Kinoshita Y, Matsuo J, Kawamoto Y, Kunugi H.
Source:
  Biol Psychol. 89(1):117-22. 2012.
PMID:
  22001167
Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation
Author(s):
  Honda S, Satomura S, Hayashi S, Imoto I, Nakagawa E, Goto Y, Inazawa J; Japanese Mental Retardation Consortium.
Source:
  J Hum Genet. 57(1):73-7. 2012.
PMID:
  22129561
Effects of the CACNA1C risk allele on neurocognition in patients with schizophrenia and healthy individuals
Author(s):
  Hori H, Yamamoto N, Fujii T, Teraishi T, Sasayama D, Matsuo J, Kawamoto Y, Kinoshita Y, Ota M, et al.
Source:
  Sci Rep. 2:634. 2012.
PMID:
  22957138
Association of SNPs linked to increased expression of SLC1A1 with schizophrenia
Author(s):
  Horiuchi Y, Iida S, Koga M, Ishiguro H, Iijima Y, Inada T, Watanabe Y, Someya T, Ujike H, et al.
Source:
  Am J Med Genet B Neuropsychiatr Genet. 159B(1):30-7. 2012.
PMID:
  22095641
Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression
Author(s):
  Ikeda-Sakai Y, Manabe Y, Fujii D, Kono S, Narai H, Omori N, Nishino I, Abe K.
Source:
  Case Rep Neurol. 4(2):120-5. 2012.
PMID:
  22855677
A pediatric patient with myopathy associated with antibodies to a signal recognition particle
Author(s):
  Kawabata T, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Sasaki M, Hayashi YK, Nishino I, et al.
Source:
  Brain Dev. 34(10):877-80. 2012.
PMID:
  22436377
Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography
Author(s):
  Komagamine T, Kawai M, Kokubun N, Miyatake S, Ogata K, Hayashi YK, Nishino I, Hirata K.
Source:
  J Neurol Sci. 318(1-2):163-7. 2012.
PMID:
  22541254
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing
Author(s):
  Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, et al.
Source:
  Am J Med Genet A. 158A(4):772-8. 2012.
PMID:
  22407809
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy
Author(s):
  Maruyama S, Saito Y, Nakagawa E, Saito T, Komaki H, Sugai K, Sasaki M, Kumada S, Saito Y, et al.
Source:
  J Neurol. 259(11):2329-34. 2012.
PMID:
  22527233
Myotonic dystrophy type 2 is rare in the Japanese population
Author(s):
  Matsuura T, Minami N, Arahata H, Ohno K, Abe K, Hayashi YK, Nishino I.
Source:
  J Hum Genet. 57(3):219-20. 2012.
PMID:
  22258159
Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies
Author(s):
  Momma K, Noguchi S, Malicdan MC, Hayashi YK, Minami N, Kamakura K, Nonaka I, Nishino I.
Source:
  PLoS One. 7(12):e52002. 2012.
PMID:
  23251671
Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2
Author(s):
  Mori-Yoshimura M, Okuma A, Oya Y, Fujimura-Kiyono C, Nakajima H, Matsuura K, Takemura A, Malicdan MC, Hayashi YK, et al.
Source:
  Clin Neurol Neurosurg. 114(6):678-83. 2012.
PMID:
  22613877
Imbalance of interneuron distribution between neocortex and basal ganglia: consideration of epileptogenesis of focal cortical dysplasia
Author(s):
  Sakakibara T, Sukigara S, Otsuki T, Takahashi A, Kaneko Y, Kaido T, Saito Y, Sato N, Nakagawa E, et al.
Source:
  J Neurol Sci. 323(1-2):128-33. 2012.
PMID:
  22989610
Delayed maturation and differentiation of neurons in focal cortical dysplasia with the transmantle sign: analysis of layer-specific marker expression
Author(s):
  Sakakibara T, Sukigara S, Saito T, Otsuki T, Takahashi A, Kaneko Y, Kaido T, Saito Y, Sato N, et al.
Source:
  J Neuropathol Exp Neurol. 71(8):741-9. 2012.
PMID:
  22805777
Heteroplasmic m 1624C>T mutation of the mitochondrial tRNA(Val) gene in a proband and his mother with repeated consciousness disturbances
Author(s):
  Sangatsuda Y, Nakamura M, Tomiyasu A, Deguchi A, Toyota Y, Goto Y, Nishino I, Ueno S, Sano A.
Source:
  Mitochondrion. 12(6):617-22. 2012.
PMID:
  23063709
Negative correlation between cerebrospinal fluid oxytocin levels and negative symptoms of male patients with schizophrenia
Author(s):
  Sasayama D, Hattori K, Teraishi T, Hori H, Ota M, Yoshida S, Arima K, Higuchi T, Amano N, et al.
Source:
  Schizophr Res. 139(1-3):201-6. 2012.
PMID:
  22742979
Association of cognitive performance with interleukin-6 receptor Asp358Ala polymorphism in healthy adults
Author(s):
  Sasayama D, Hori H, Teraishi T, Hattori K, Ota M, Matsuo J, Kawamoto Y, Kinoshita Y, Amano N, et al.
Source:
  J Neural Transm. 119(3):313-8. 2012.
PMID:
  21879314
More severe impairment of manual dexterity in bipolar disorder compared to unipolar major depression
Author(s):
  Sasayama D, Hori H, Teraishi T, Hattori K, Ota M, Matsuo J, Kawamoto Y, Kinoshita Y, Hashikura M, et al.
Source:
  J Affect Disord. 136(3):1047-52. 2012.
PMID:
  22169250
Possible impact of ADRB3 Trp64Arg polymorphism on BMI in patients with schizophrenia
Author(s):
  Sasayama D, Hori H, Teraishi T, Hattori K, Ota M, Tatsumi M, Higuchi T, Amano N, Kunugi H.
Source:
  Prog Neuropsychopharmacol Biol Psychiatry. 38(2):341-4. 2012.
PMID:
  22609474
Dystrophic neurites express C9orf72 in Alzheimer's disease brains
Author(s):
  Satoh J, Tabunoki H, Ishida T, Saito Y, Arima K.
Source:
  Alzheimers Res Ther. 4(4):33. 2012.
PMID:
  22898310
Immunohistochemical characterization of gamma-secretase activating protein expression in Alzheimer's disease brains
Author(s):
  Satoh J, Tabunoki H, Ishida T, Saito Y, Arima K.
Source:
  Neuropathol Appl Neurobiol. 38(2):132-41. 2012.
PMID:
  21718343
Characterization of the Asian myopathy patients with VCP mutations
Author(s):
  Shi Z, Hayashi YK, Mitsuhashi S, Goto K, Kaneda D, Choi YC, Toyoda C, Hieda S, Kamiyama T, et al.
Source:
  Eur J Neurol. 19(3):501-9. 2012.
PMID:
  22040362
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
Author(s):
  Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, et al.
Source:
  J Med Genet. 49(12):777-84. 2012.
PMID:
  23188110
Teaching NeuroImages: unilateral arm and contralateral leg amyotrophy in FSHD: unusual presentation
Author(s):
  Sugie K, Hayashi YK, Goto K, Nishino I, Ueno S.
Source:
  Neurology. 79(5):e46. 2012.
PMID:
  22851725
Positive association between STAT4 polymorphisms and polymyositis/dermatomyositis in a Japanese population
Author(s):
  Sugiura T, Kawaguchi Y, Goto K, Hayashi Y, Tsuburaya R, Furuya T, Gono T, Nishino I, Yamanaka H.
Source:
  Ann Rheum Dis. 71(10):1646-50. 2012.
PMID:
  22402141
Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia
Author(s):
  Sukigara S, Liang WC, Komaki H, Fukuda T, Miyamoto T, Saito T, Saito Y, Nakagawa E, Sugai K, et al.
Source:
  Neuromuscul Disord. 22(2):162-5. 2012.
PMID:
  21958591
Myopathy associated with antibodies to signal recognition particle: disease progression and neurological outcome
Author(s):
  Suzuki S, Hayashi YK, Kuwana M, Tsuburaya R, Suzuki N, Nishino I.
Source:
  Arch Neurol. 69(6):728-32. 2012.
PMID:
  22332183
Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy
Author(s):
  Takeshita E, Nakagawa E, Nakatani K, Sasaki M, Goto Y.
Source:
  Brain Dev. 34(9):776-9. 2012.
PMID:
  22269148
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology
Author(s):
  Tsuburaya RS, Monma K, Oya Y, Nakayama T, Fukuda T, Sugie H, Hayashi YK, Nonaka I, Nishino I.
Source:
  Neuromuscul Disord. 22(5):389-93. 2012.
PMID:
  22196155

NCNPの2011年の発表、掲載論文に関する検索結果

Search results

Item: 21

No.	Publication

Possible association of the semaphorin 3D gene (SEMA3D) with schizophrenia
Author(s):
  Fujii T, Uchiyama H, Yamamoto N, Hori H, Tatsumi M, Ishikawa M, Arima K, Higuchi T, Kunugi H.
Source:
  J Psychiatr Res. 45(1):47-53. 2011.
PMID:
  20684831
Support for association between the Ser205Leu polymorphism of p75(NTR) and major depressive disorder
Author(s):
  Fujii T, Yamamoto N, Hori H, Hattori K, Sasayama D, Teraishi T, Hashikura M, Tatsumi M, Okamoto N, et al.
Source:
  J Hum Genet. 56(11):806-9. 2011.
PMID:
  21938001
Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest
Author(s):
  Kawashima H1, Ishii C, Yamanaka G, Ioi H, Nishimata S, Kashiwagi Y, Takekuma K, Miyajima T, Hoshika A, et al.
Source:
  Pediatr Int. 53(2):159-61. 2011.
PMID:
  21501304
Inflammatory changes in infantile-onset LMNA-associated myopathy
Author(s):
  Komaki H, Hayashi YK, Tsuburaya R, Sugie K, Kato M, Nagai T, Imataka G, Suzuki S, Saitoh S, et al.
Source:
  Neuromuscul Disord. 21(8):563-8. 2011.
PMID:
  21632249
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy
Author(s):
  Mitsuhashi S, Hatakeyama H, Karahashi M, Koumura T, Nonaka I, Hayashi YK, Noguchi S, Sher RB, Nakagawa Y, et al.
Source:
  Hum Mol. Genet. 20(19):3841-51. 2011.
PMID:
  21750112
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis
Author(s):
  Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, et al.
Source:
  Am J Hum Genet. 88(6):845-51. 2011.
PMID:
  21665002
A polymorphism of the ABCA1 gene confers susceptibility to schizophrenia and related brain changes
Author(s):
  Ota M, Fujii T, Nemoto K, Tatsumi M, Moriguchi Y, Hashimoto R, Sato N, Iwata N, Kunugi H.
Source:
  Prog Neuropsychopharmacol Biol Psychiatry. 35(8):1877-83. 2011.
PMID:
  21839797
Neocortical layer formation of human developing brains and lissencephalies: consideration of layer-specific marker expression
Author(s):
  Saito T, Hanai S, Takashima S, Nakagawa E, Okazaki S, Inoue T, Miyata R, Hoshino K, Akashi T, et al.
Source:
  Cereb Cortex. 21(3):588-96. 2011.
PMID:
  20624841
Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations
Author(s):
  Saito Y, Komaki H, Hattori A, Takeuchi F, Sasaki M, Kawabata K, Mitsuhashi S, Tominaga K, Hayashi YK, et al.
Source:
  Neuromuscul Disord. 21(7):489-93. 2011.
PMID:
  21514153
Absence of small-vessel abnormalities in alternating hemiplegia of childhood
Author(s):
  Sasaki M, Matsufuji H, Inui T, Arima K.
Source:
  Brain Dev. 33(5):390-3. 2011.
PMID:
  20826074
Modulation of cortisol responses to the DEX/CRH test by polymorphisms of the interleukin-1beta gene in healthy adults
Author(s):
  Sasayama D, Hori H, Iijima Y, Teraishi T, Hattori K, Ota M, Fujii T, Higuchi T, Amano N, et al.
Source:
  Behav Brain Funct. 7:23. 2011.
PMID:
  21726461
Possible association between interleukin-1beta gene and schizophrenia in a Japanese population
Author(s):
  Sasayama D, Hori H, Teraishi T, Hattori K, Ota M, Iijima Y, Tatsumi M, Higuchi T, Amano N, et al.
Source:
  Behav Brain Funct. 7:35. 2011.
PMID:
  21843369
Difference in Temperament and Character Inventory scores between depressed patients with bipolar II and unipolar major depressive disorders
Author(s):
  Sasayama D, Hori H, Teraishi T, Hattori K, Ota M, Matsuo J, Kawamoto Y, Kinoshita Y, Hashikura M, et al.
Source:
  J Affect Disord. 132(3):319-24. 2011.
PMID:
  21439649
Association of interleukin-1beta genetic polymorphisms with cognitive performance in elderly females without dementia
Author(s):
  Sasayama D, Hori H, Teraishi T, Hattori K, Ota M, Matsuo J, Kawamoto Y, Kinoshita Y, Higuchi T, et al.
Source:
  J Hum Genet. 56(8):613-6. 2011.
PMID:
  21614008
Association of plasma IL-6 and soluble IL-6 receptor levels with the Asp358Ala polymorphism of the IL-6 receptor gene in schizophrenic patients
Author(s):
  Sasayama D, Wakabayashi C, Hori H, et al.
Source:
  J Psychiatr Res. 45:1439-44. 2011.
PMID:
  21700295
Immunohistochemical characterization of microglia in Nasu-Hakola disease brains
Author(s):
  Satoh J, Tabunoki H, Ishida T, Yagishita S, Jinnai K, Futamura N, Kobayashi M, Toyoshima I, Yoshioka T, et al.
Source:
  Neuropathology. 31(4):363-75. 2011.
PMID:
  21118401
Anti-signal recognition particle myopathy in the first decade of life
Author(s):
  Suzuki S, Ohta M, Shimizu Y, Hayashi YK, Nishino I.
Source:
  Pediatr Neurol. 45(2):114-6. 2011.
PMID:
  21763952
Association of ANK3 with bipolar disorder confirmed in East Asia
Author(s):
  Takata A, Kim SH, Ozaki N, Iwata N, Kunugi H, Inada T, Ujike H, Nakamura K, Mori N, et al.
Source:
  Am J Med Genet B Neuropsychiatr Genet. 156B(3):312-5. 2011.
PMID:
  21438140
Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation
Author(s):
  Takeshita E, Saito Y, Nakagawa E, Komaki H, Sugai K, Sasaki M, Nezu A, Kitamura J, Itoh M, et al.
Source:
  J Neurol Sci. 308(1-2):168-72. 2011.
PMID:
  21722922
Lobulated fibers in a patient with 46-year history of limb-girdle muscle weakness
Author(s):
  Tsuburaya R, Suzuki T, Saiki K, Nonaka I, Sugita H, Hayashi YK, Nishino I.
Source:
  Neuropathology. 31(4):455-7. 2011.
PMID:
  21518015
Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development
Author(s):
  Waga C, Okamoto N, Ondo Y, Fukumura-Kato R, Goto Y, Kohsaka S, Uchino S.
Source:
  Psychiatr Genet. 21(4):208-11. 2011.
PMID:
  21378602

NCNPの2010年の発表、掲載論文に関する検索結果

Search results

Item: 11

No.	Publication

Failure to find an association between myosin heavy chain 9, non-muscle (MYH9) and schizophrenia: a three-stage case-control association study
Author(s):
  Amagane H, Watanabe Y, Kaneko N, Nunokawa A, Muratake T, Ishiguro H, Arinami T, Ujike H, Inada T, et al.
Source:
  Schizophr Res. 118(1-3):106-12. 2010.
PMID:
  20188514
Abnormal maturation of non-dysmorphic neurons in focal cortical dysplasia: immunohistochemical considerations
Author(s):
  Hanai S, Saito T, Nakagawa E, Arai A, Otsuki T, Sasaki M, Goto Y, Itoh M.
Source:
  Seizure. 19(5):274-9. 2010.
PMID:
  20452788
A genetic variation in the dysbindin gene (DTNBP1) is associated with memory performance in healthy controls
Author(s):
  Hashimoto R, Noguchi H, Hori H, Nakabayashi T, Suzuki T, Iwata N, Ozaki N, Kosuga A, Tatsumi M, et al.
Source:
  World J Biol Psychiatry. 11(2 Pt 2):431-8. 2010.
PMID:
  19353385
Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
Author(s):
  Honda S, Hayashi S, Imoto I, Toyama J, Okazawa H, Nakagawa E, Goto Y, Inazawa J.
Source:
  J Hum Genet. 55(9):590-9. 2010.
PMID:
  20613765
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease
Author(s):
  Kim H, Cho A, Lim BC, Kim MJ, Kim KJ, Nishino I, Hwang YS, Chae JH.
Source:
  Muscle Nerve. 41(6):879-82. 2010.
PMID:
  20513107
Reversible infantile respiratory chain deficiency: a clinical and molecular study
Author(s):
  Mimaki M, Hatakeyama H, Komaki H, Yokoyama M, Arai H, Kirino Y, Suzuki T, Nishino I, Nonaka I, et al.
Source:
  Ann Neurol. 68(6):845-54. 2010.
PMID:
  21194154
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients
Author(s):
  Mitsuhashi H, Hayashi YK, Matsuda C, Noguchi S, Wakatsuki S, Araki T, Nishino I.
Source:
  J Cell Sci. 123(Pt 22):3893-900. 2010.
PMID:
  20980393
Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease
Author(s):
  Osaka H, Hamanoue H, Yamamoto R, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, et al.
Source:
  Ann Neurol. 68(2):250-4. 2010.
PMID:
  20695017
QTc prolongation and antipsychotic medications in a sample of 1017 patients with schizophrenia
Author(s):
  Ozeki Y, Fujii K, Kurimoto N, Yamada N, Okawa M, Aoki T, Takahashi J, Ishida N, Horie M, et al.
Source:
  Prog Neuropsychopharmacol Biol Psychiatry. 34(2):401-5. 2010.
PMID:
  20079791
Plasma levels of vascular endothelial growth factor and fibroblast growth factor 2 in patients with major depressive disorders
Author(s):
  Takebayashi M, Hashimoto R, Hisaoka K, Tsuchioka M, Kunugi H.
Source:
  J Neural Transm. 117(9):1119-22. 2010.
PMID:
  20690032
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology
Author(s):
  Tominaga K, Hayashi YK, Goto K, Minami N, Noguchi S, Nonaka I, Miki T, Nishino I.
Source:
  Acta Neuropathol. 119(4):481-6. 2010.
PMID:
  20179953

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