Hidehiko Okuma

Kameda Medical Center — Japan

Biochemistry, Genetics and Molecular Biology · Life Sciences

6h-index140citations25works0.02yr avg
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Research Topics

Muscle Physiology and Disorders(12), Calpain Protease Function and Regulation(5), Multiple Sclerosis Research Studies(2), Retinal Diseases and Treatments(2), Protease and Inhibitor Mechanisms(2)

Publications25 total

Perinatal management of a pregnant patient with limb-girdle muscular dystrophy R1 calpain3-related
BMJ Case Reports·2026
Identification of a short, single site matriglycan that maintains neuromuscular function in the mouse
2023· 3 citedOpen Access
N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy
eLife·2023· 14 citedOpen Access
Author response: N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy
2023Open Access
Dystroglycan N-terminal domain enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy
2022Open Access
<i>Large1</i> gene transfer in older <i>myd</i> mice with severe muscular dystrophy restores muscle function and greatly improves survival
Science Advances·2022· 14 citedOpen Access
<i>Large1</i> Gene Transfer in Older <i>myd</i> Mice with Severe Muscular Dystrophy Restores Muscle Function and Greatly Improves Survival
2021Open Access
POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan
eLife·2020· 29 citedOpen Access
Author response: POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan
2020· 1 citedOpen Access
POMK regulates dystroglycan function via LARGE-mediated elongation of matriglycan
2020· 1 citedOpen Access
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1
Neuromuscular Disorders·2016· 4 cited
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of <i>STIM1</i>
Neurology Genetics·2016· 30 citedOpen Access
The effect of overexpression of α-dystroglycan N-terminal domain on mouse skeletal muscle
The Japanese Biochemical Society/The Molecular Biology Society of Japan·2015
Sudden onset of sleep due to hypothalamic lesions in neuromyelitis optica spectrum disorder positive for anti-aquaporin-4 antibody
Multiple Sclerosis Journal·2014· 15 cited
Diagnostic Utility Of Repetitive Nerve Stimulation Test Of The Trapezius Muscle In Amyotrophic Lateral Sclerosis (P4.113)
Neurology·2014· 1 cited
A Case Report Of 4H Syndrome Probably Caused By A Heterozygous Abnormality Of The POLR3A Gene With Preserved Intellectual Function (P7.327)
Neurology·2014
Sudden Onset Of Sleep Due To Bilateral Hypothalamic Lesions In Neuromyelitis Optica Spectrum Disorder Positive For Aquaporin 4 Antibody (AQP4) (P5.298)
Neurology·2014
Initial dip and bilobed N21 peak in the tibial nerve SEPs suggest predominant demyelination in the nerve root
Journal of the Neurological Sciences·2013
The Natural History of Hemiballism (P07.215)
Neurology·2013
Muscle metabolism in patients with polymyositis simultaneously evaluated by using 31P-magnetic resonance spectroscopy and near-infrared spectroscopy
International Journal of Clinical Practice·2006· 14 cited
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Frequent Co-authors

Masahiro Sonoo(9), David Venzke(9), Mary E. Anderson(9), Kevin P. Campbell(9), Yuki Hatanaka(8), Fumiaki Saito(7), Kiichiro Matsumura(7), Ameya Walimbe(7), Soumya Joseph(7), Jeffrey M. Hord(7), Takahiro Yonekawa(6), Marco Cuellar(5), Yuji Hara(4), Tiandi Yang(4), Sally Prouty(4), Saul Ocampo Landa(4), Ishita Chandel(4), Silvia Torelli(3), Megan Devereaux(3), Liping Yu(3)