Nobuyuki Murakami

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Ichizo Nishino, Jin Fu, Kurenai Tanji et al. · Nature · 2000 · 936 citations

Ophthalmology, Medicine, Pathology +3

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels

Yukari Endo, S. Noguchi, Yuji Hara et al. · Human Molecular Genetics · 2014 · 168 citations · Full text

Ubiquitin-positive intraneuronal inclusions in the extramotor cortices of presenile dementia patients with motor neuron disease

Koichi Okamoto, Nobuyuki Murakami, Hirofumi Kusaka et al. · Journal of Neurology · 1992 · 121 citations

Ubiquitin-positive Intraneuronal Inclusions, Presenile Dementia Patients, Alzheimer's Disease +11

Cause of sudden, unexpected death of Prader–Willi syndrome patients with or without growth hormone treatment

Toshiro Nagai, Kyoichi Obata, H. Tonoki et al. · American Journal of Medical Genetics Part A · 2005 · 113 citations

Postnatal overgrowth by 15q‐trisomy and intrauterine growth retardation by 15q‐monosomy due to familial translocation t(13;15): Dosage effect of <i>IGF1R</i>?

Toshiro Nagai, Osamu Shimokawa, Naoki Harada et al. · American Journal of Medical Genetics · 2002 · 113 citations · Full text