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| Adiponectin and AdipoR1 regulate PGC-1α and mitochondria by Ca2+ and AMPK/SIRT1 M Iwabu, T Yamauchi, M Okada-Iwabu, K Sato, T Nakagawa, M Funata, ... Nature 464 (7293), 1313-1319, 2010 | 1149 | 2010 |
| 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 | 1098 | 2000 |
| Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder I Nishino, A Spinazzola, M Hirano Science 283 (5402), 689-692, 1999 | 1042 | 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 | 887 | 2002 |
| Skeletal muscle Foxo1 (Fkhr) transgenic mice have less skeletal muscle mass, down-regulated type I (Slow twitch/red muscle) fiber genes, and impaired glycemic control*[Boxs] Y Kamei, S Miura, M Suzuki, Y Kai, J Mizukami, T Taniguchi, K Mochida, ... Journal of Biological Chemistry 279 (39), 41114-41123, 2004 | 705 | 2004 |
| Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene LC Papadopoulou, CM Sue, MM Davidson, K Tanji, I Nishino, JE Sadlock, ... Nature genetics 23 (3), 333-337, 1999 | 689 | 1999 |
| 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 | 615 | 2007 |
| 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 | 500 | 2018 |
| Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy YK Hayashi, C Matsuda, M Ogawa, K Goto, K Tominaga, S Mitsuhashi, ... The Journal of clinical investigation 119 (9), 2623-2633, 2009 | 458 | 2009 |
| 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 | 398 | 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 | 363 | 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 | 349 | 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 | 334 | 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 | 313 | 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 | 303 | 2004 |
| Clinicopathological features of genetically confirmed Danon disease K Sugie, A Yamamoto, K Murayama, SJ Oh, M Takahashi, M Mora, ... Neurology 58 (12), 1773-1778, 2002 | 291 | 2002 |
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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 | 278 | 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 | 270 | 2002 |
May Christine MalicdanNHGRIVerified email at mail.nih.gov
