S. Takahashi

发表

A new mutation of GCH1 in triplets family with dopa‐responsive dystonia

N. Tachi, S. Takahashi, M. Jo, 2011, European journal of neurology.

Encephalopathy associated with haemophagocytic lymphohistiocytosis following rotavirus infection

H. Azuma, J. Oki, A. Miyamoto, 1999, European Journal of Pediatrics.

Autopsy Findings in Pyruvate Dehydrogenase E1α Deficiency: Case Report

Y. Tokusashi, M. Obata, J. Oki, 1997, Journal of child neurology.

FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome

K. Okajima, A. Miyamoto, A. Araki, 2012, Clinical genetics.

Acute transverse myelitis caused by ECHO virus type 18 infection

H. Azuma, J. Oki, A. Miyamoto, 1995, European Journal of Pediatrics.

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome

Y. Makita, K. Fujieda, K. Murono, 2008, Clinical genetics.

Serial imaging in MELAS

J. Oki, A. Miyamoto, S. Takahashi, 1997, Neuroradiology.

De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.

Y. Makita, J. Oki, A. Miyamoto, 1998, American journal of human genetics.

Alobar holoprosencephaly with diabetes insipidus and neuronal migration disorder.

T. Saino, J. Oki, A. Miyamoto, 1995, Pediatric neurology.

Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome

H. Oguni, M. Matsufuji, N. Sano, 2017, Clinical genetics.

Effects of neonatal hypoxia on the medulla-spinal cord descending neurons.

H. Tanaka, J. Oki, S. Takahashi, 1998, Pediatric neurology.