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Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease) I Nishino, J Fu, K Tanji, T Yamada, S Shimojo, T Koori, M Mora, JE Riggs, ... Nature 406 (6798), 906-910, 2000 | 1071 | 2000 |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder I Nishino, A Spinazzola, M Hirano Science 283 (5402), 689-692, 1999 | 1037 | 1999 |
Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies DE Michele, R Barresi, M Kanagawa, F Saito, RD Cohn, JS Satz, J Dollar, ... Nature 418 (6896), 417-421, 2002 | 877 | 2002 |
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Distinctive patterns of microRNA expression in primary muscular disorders I Eisenberg, A Eran, I Nishino, M Moggio, C Lamperti, AA Amato, ... Proceedings of the National Academy of Sciences 104 (43), 17016-17021, 2007 | 605 | 2007 |
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Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations I Nishino, A Spinazzola, A Papadimitriou, S Hammans, I Steiner, CD Hahn, ... Annals of Neurology: Official Journal of the American Neurological …, 2000 | 393 | 2000 |
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy C Fugier, AF Klein, C Hammer, S Vassilopoulos, Y Ivarsson, A Toussaint, ... Nature medicine 17 (6), 720-725, 2011 | 349 | 2011 |
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease H Ishiura, S Shibata, J Yoshimura, Y Suzuki, W Qu, K Doi, MA Almansour, ... Nature genetics 51 (8), 1222-1232, 2019 | 320 | 2019 |
Clinical features and prognosis in anti-SRP and anti-HMGCR necrotising myopathy Y Watanabe, A Uruha, S Suzuki, J Nakahara, K Hamanaka, K Takayama, ... Journal of Neurology, Neurosurgery & Psychiatry 87 (10), 1038-1044, 2016 | 310 | 2016 |
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle C Matsuda, YK Hayashi, M Ogawa, M Aoki, K Murayama, I Nishino, ... Human molecular genetics 10 (17), 1761-1766, 2001 | 306 | 2001 |
LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies R Barresi, DE Michele, M Kanagawa, HA Harper, SA Dovico, JS Satz, ... Nature medicine 10 (7), 696-703, 2004 | 301 | 2004 |
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Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy I Nishino, S Noguchi, K Murayama, A Driss, K Sugie, Y Oya, T Nagata, ... Neurology 59 (11), 1689-1693, 2002 | 273 | 2002 |
Altered thymidine metabolism due to defects of thymidine phosphorylase A Spinazzola, R Marti, I Nishino, AL Andreu, A Naini, S Tadesse, I Pela, ... Journal of Biological Chemistry 277 (6), 4128-4133, 2002 | 269 | 2002 |