Akiko Abe

Neurofilament light chain polypeptide gene mutations in Charcot–Marie–Tooth disease: nonsense mutation probably causes a recessive phenotype

Akiko Abe, Chikahiko Numakura, Kayoko Saito et al. · Journal of Human Genetics · 2009 · 95 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mendelian Disorder +11

A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease

Gen Tamiya, Satoshi Makino, Makiko Hayashi et al. · The American Journal of Human Genetics · 2014 · 77 citations · Full text

Mendelian Disorder, Genetic Disorder, Charcot-marie-tooth Disease +7

Molecular diagnosis and clinical onset of Charcot–Marie–Tooth disease in Japan

Akiko Abe, Chikahiko Numakura, Kazuki Kijima et al. · Journal of Human Genetics · 2011 · 73 citations · Full text

Clinical Onset, Dental Disease, Pathology

Relationship of quantitative salivary levels of <i>Streptococcus mutans</i> and <i>S. sobrinus</i> in mothers to caries status and colonization of mutans streptococci in plaque in their 2.5‐year‐old children

M. Kishi, Akiko Abe, Kayo Kishi et al. · Community Dentistry And Oral Epidemiology · 2009 · 63 citations

A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation

Yoshihisa Ikeda, Akiko Abe, Chiho Ishida et al. · Journal of the Neurological Sciences · 2008 · 48 citations

Novel Hspb1 Mutation, Mendelian Disorder, Genetic Disorder +9