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Lista de obras de Hitoshi Osaka

A novel SLC9A1 mutation causes cerebellar ataxia

scientific article published on 17 July 2018

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

artículo científico publicado en 2017

Apomorphine rescues reactive oxygen species-induced apoptosis of fibroblasts with mitochondrial disease

artículo científico publicado en 2019

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

artículo científico publicado en 2019

Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome.

artículo científico publicado en 2017

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

artículo científico publicado en 2019

Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy

scientific article published on 01 June 2020

Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A1

artículo científico publicado en 2020

Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome

artículo científico publicado en 2018

Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia

artículo científico publicado en 2018

Reply to the Letter, "Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation"

scientific article published on 17 November 2018

Reply to the letter to the editor by Josef Finsterer and Sinda Zarrouk-Mahjoub

artículo científico publicado en 2018

Survey on Children with Cerebral Palsy in Tochigi Prefecture, Japan

artículo científico publicado en 2020

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