Dysferlin mutations in Japanese Miyoshi myopathy

Takashi Takahashi, Masashi Aoki, M. Tateyama, +30

Neurology

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, +8

Human Mutation

Molecular DiagnosisGenetic TestingGeneticsMutation DetectionGenetic Epidemiology +20

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, +8

Human Mutation

A novel mtDNA C11777A mutation in Leigh syndrome

Hirofumi Komaki, Jun Akanuma, Hideki Iwata, +4

Mitochondrion

Mendelian DisorderGenetic DisorderNatural SciencesGeneticsDna Replication +5

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

Noriko Tanaka, Yu‐ichi Goto, Jun Akanuma, +4

Mitochondrion

Neurodegenerative DiseasesAlzheimer's DiseaseMitochondrial FunctionMedicineGenetics +9

Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells

Jun Akanuma, Toshinori Nishigaki, Kunihiro Fujii, +11

American Journal of Medical Genetics

Molecular DiagnosisShort StatureGeneticsImmunologyPathology +23

Reversal of Hypopigmentation in Phenylketonuria Mice by Adenovirus-Mediated Gene Transfer

Yutaka Nagasaki, Yoichi Matsubara, Hideaki Takano, +9

Pediatric Research

Signal TransductionMolecular PhysiologyMolecular BiologyMedicineCell Biology +2

Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene

Jun Akanuma, K. Muraki, Hirofumi Komaki, +2

Journal of Human Genetics

Genome InstabilityMitochondrial FunctionNatural SciencesGeneticsMolecular Biology +7

A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy

Masakazu Mimaki, Akemi Ikota, Aya Sato, +4

Journal of Human Genetics

BiologyMendelian DisorderMitochondrial FunctionGenetic DisorderNatural Sciences +9

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia

Kazutoshi Takahashi, Jun Akanuma, Yoichi Matsubara, +10

American Journal of Medical Genetics

Metabolic DisorderShort StatureGeneticsPathologyMolecular Genetics +14