M. Aoki

发表

A rare case of sporadic inclusion body myositis and rheumatoid arthritis exhibiting ectopic lymphoid follicle-like structures: a case report and literature review

N. Suzuki, Y. Shirota, H. Kuroda, 2021, Neuromuscular Disorders.

Novel acceptor splice site mutation in the invariant AG of intron 6 of α‐galactosidase A gene, causing Fabry disease

H. Osaka, Kyoko Suzuki, K. Kosaka, 1998 .

Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. Online.

H. Osaka, K. Kosaka, C. Kawanishi, 1998, Human mutation.

Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001)

T. Mima, M. Morita, Y. Sankai, 2021, Orphanet Journal of Rare Diseases.

ABCD1 translation–initiator mutation demonstrates genotype–phenotype correlation for AMN

G. O'neill, M. Aoki, Robert H. Brown, 2001, Neurology.

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

K. Haginoya, H. Ishiura, Y. Takiyama, 2018, Journal of Human Genetics.

Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis

G. Sobue, M. Morita, N. Hattori, 2020, Neurobiology of Aging.

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

I. Nonaka, Y. Hayashi, I. Nishino, 2001, Human molecular genetics.