Articles with public access mandates - Ichizo NISHINOLearn more
Not available anywhere: 4
Review
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype
R Quinlivan, S Mitsuahashi, C Sewry, S Cirak, C Aoyama, D Mooore, ...
Neuromuscular Disorders 23 (7), 549-556, 2013
Mandates: UK Medical Research Council
Review
Altered TDP‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy
A Cortese, M Laurà, C Casali, I Nishino, YK Hayashi, S Magri, F Taroni, ...
European Journal of Neurology 25 (1), 154-163, 2018
Mandates: Fondazione Telethon, Italy, National Institute for Health Research, UK
Review
Visualizing muscle sialic acid expression in the GNED207VTgGne-/-Cmah-/-model of GNE myopathy: A comparison of dietary and gene therapy approaches
KE Crowe, DA Zygmunt, K Heller, L Rodino-Klapac, S Noguchi, I Nishino, ...
Journal of Neuromuscular Diseases 9 (1), 53-71, 2022
Mandates: US National Institutes of Health
Review
A case of orofacial swelling accompanied by sarcoid-like reaction due to chronic active Epstein-Barr virus infection
R Nishiyori, K Saito, M Ishibashi, E Matsubara, K Okuhiro, K Takano, ...
European Journal of Dermatology 32 (2), 277-278, 2022
Mandates: US National Institutes of Health
Available somewhere: 75
Review
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
Mandates: Swiss National Science Foundation, US National Institutes of Health, US …
Review
224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14–16 October 2016
Y Allenbach, AL Mammen, O Benveniste, W Stenzel, A Amato, A Aussey, ...
Neuromuscular disorders 28 (1), 87-99, 2018
Mandates: Fondazione Telethon, Italy
Review
Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy
ML van den Boogaard, RJLF Lemmers, J Balog, M Wohlgemuth, ...
The American Journal of Human Genetics 98 (5), 1020-1029, 2016
Mandates: US National Institutes of Health
Review
239th ENMC international workshop: classification of dermatomyositis, Amsterdam, the Netherlands, 14–16 December 2018
AL Mammen, Y Allenbach, W Stenzel, O Benveniste, J De Bleecker, ...
Neuromuscular Disorders 30 (1), 70-92, 2020
Mandates: US National Institutes of Health, Fondazione Telethon, Italy, Versus …
Review
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
G Ravenscroft, S Miyatake, VL Lehtokari, EJ Todd, P Vornanen, KS Yau, ...
The American Journal of Human Genetics 93 (1), 6-18, 2013
Mandates: US National Institutes of Health, National Health and Medical Research …
Review
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
M Yuen, SA Sandaradura, JJ Dowling, AS Kostyukova, N Moroz, ...
The Journal of clinical investigation 124 (11), 4693-4708, 2014
Mandates: US National Institutes of Health, National Health and Medical Research …
Review
GNE myopathy: current update and future therapy
I Nishino, N Carrillo-Carrasco, Z Argov
Journal of Neurology, Neurosurgery & Psychiatry 86 (4), 385-392, 2015
Mandates: US National Institutes of Health
Review
Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
VA Gupta, G Ravenscroft, R Shaheen, EJ Todd, LC Swanson, M Shiina, ...
The American Journal of Human Genetics 93 (6), 1108-1117, 2013
Mandates: US National Institutes of Health, National Health and Medical Research …
Review
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
WC Liang, A Ohkuma, YK Hayashi, LC López, M Hirano, I Nonaka, ...
Neuromuscular Disorders 19 (3), 212-216, 2009
Mandates: US National Institutes of Health
Review
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
LC Lopez, HO Akman, Á García-Cazorla, B Dorado, R Martí, I Nishino, ...
Human molecular genetics 18 (4), 714-722, 2009
Mandates: US National Institutes of Health
Review
205th ENMC International Workshop: pathology diagnosis of idiopathic inflammatory myopathies part II 28–30 March 2014, Naarden, The Netherlands
JL De Bleecker, B De Paepe, E Aronica, M de Visser, A Amato, ...
Neuromuscular Disorders 25 (3), 268-272, 2015
Mandates: Fondazione Telethon, Italy, Netherlands Organisation for Health Research and …
Review
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis
S Mitsuhashi, A Ohkuma, B Talim, M Karahashi, T Koumura, C Aoyama, ...
The American Journal of Human Genetics 88 (6), 845-851, 2011
Mandates: US National Institutes of Health
Review
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
N Ramachandran, I Munteanu, P Wang, A Ruggieri, JJ Rilstone, ...
Acta neuropathologica 125, 439-457, 2013
Mandates: Canadian Institutes of Health Research
Review
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
A Toussaint, BS Cowling, K Hnia, M Mohr, A Oldfors, Y Schwab, U Yis, ...
Acta neuropathologica 121, 253-266, 2011
Mandates: National Institute of Health and Medical Research, France
Review
Expansion of GGC repeat in GIPC1 is associated with oculopharyngodistal myopathy
J Deng, J Yu, P Li, X Luan, L Cao, J Zhao, M Yu, W Zhang, H Lv, Z Xie, ...
The American Journal of Human Genetics 106 (6), 793-804, 2020
Mandates: National Natural Science Foundation of China
Review
Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease
I Nemazanyy, B Blaauw, C Paolini, C Caillaud, F Protasi, A Mueller, ...
EMBO molecular medicine 5 (6), 870-890, 2013
Mandates: US National Institutes of Health, German Research Foundation, National …
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