N. Ando

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation

Y. Wada, N. Matsumoto, S. Saitoh, 2015, Clinical genetics.

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies

N. Matsumoto, M. Shiina, K. Ogata, 2014, Neurology.

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome

Keith A. Boroevich, T. Tsunoda, M. Yamasaki, 2018, Journal of Human Genetics.

A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever

N. Matsumoto, S. Saitoh, M. Nakashima, 2017, Brain and Development.