Naomi Hino‐Fukuyo

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

Yukiko Hayashi, Chie Matsuda, Megumu Ogawa et al. · Journal of Clinical Investigation · 2009 · 393 citations · Full text

Medicine, Biochemistry, Molecular Genetics +15

Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations

Sara Zagaglia, C. Selch, Jelena Radić Nišević et al. · Neurology · 2018 · 144 citations · Full text

Medicine, Neurology, Neuroscience +17

De novo <i>GABRA1</i> mutations in Ohtahara and West syndromes

Hirofumi Kodera, Chihiro Ohba, Mitsuhiro Kato et al. · Epilepsia · 2016 · 92 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

Naomi Hino‐Fukuyo, Atsuo Kikuchi, Natsuko Arai‐Ichinoi et al. · Human Genetics · 2015 · 62 citations

Life Sciences, Genetics, Molecular Genetics +16

Intramuscular renin–angiotensin system is activated in human muscular dystrophy

Guilian Sun, Kazuhiro Haginoya, Hongmei Dai et al. · Journal of the Neurological Sciences · 2009 · 48 citations

Life Sciences, Physiology, Neuromuscular Disorders +8