Jun Akanuma

Dysferlin mutations in Japanese Miyoshi myopathy

Takashi Takahashi, Masashi Aoki, M. Tateyama et al. · Neurology · 2003 · 78 citations

Mutation detection by TaqMan-allele specific amplification: Application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency

Kunihiro Fujii, Yoichi Matsubara, Jun Akanuma et al. · Human Mutation · 2000 · 61 citations

Molecular Diagnosis, Genetic Testing, Genetics +22

TwoCPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes

Kaoru Wataya, Jun Akanuma, Patrizia Cavadini et al. · Human Mutation · 1998 · 58 citations

A novel mtDNA C11777A mutation in Leigh syndrome

Hirofumi Komaki, Jun Akanuma, Hideki Iwata et al. · Mitochondrion · 2003 · 49 citations

Mendelian Disorder, Genetic Disorder, Natural Sciences +7

Mitochondrial DNA variants in a Japanese population of patients with Alzheimer’s disease

Noriko Tanaka, Yu‐ichi Goto, Jun Akanuma et al. · Mitochondrion · 2009 · 47 citations

Neurodegenerative Diseases, Alzheimer's Disease, Mitochondrial Function +11