Y. Kondo

发表

Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III

K. Sakamoto, S. Tsuji, N. Matsumoto, 2012, Journal of the Neurological Sciences.

A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS

N. Matsumoto, T. Miyamoto, N. Miyake, 2012, Journal of Human Genetics.

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, Clinical genetics.

Whole‐exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

A. Mégarbané, N. Matsumoto, N. Miyake, 2013, American journal of medical genetics. Part A.

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.

N. Matsumoto, M. Shiina, K. Ogata, 2011, American journal of human genetics.

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

N. Matsumoto, Taki Nishimura, N. Miyake, 2013, Nature Genetics.

De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy

Y. Wada, N. Matsumoto, Y. Maegaki, 2013, Human Mutation.

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, Epilepsia.

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing

N. Matsumoto, T. Miyamoto, N. Miyake, 2013, Molecular vision.

Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease

Y. Kuroiwa, N. Matsumoto, S. Morita, 2012, Neurology.