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List of works by Akira Sano

A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms

scientific article published on 23 July 2019

A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs

scientific article published on 27 November 2019

Adult‐type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case ⬇️

scientific article published on February 1, 2011

Chorea-acanthocytosis with upper motor neuron degeneration and 3419_3420 delCA and 3970_3973 delAGTC VPS13A mutations.

scientific article published in December 2009

Chorein interacts with α-tubulin and histone deacetylase 6, and overexpression preserves cell viability during nutrient deprivation in human embryonic kidney 293 cells.

scientific article

Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin.

scientific article

Chronological changes in prosaposin in the developing rat brain.

scientific article published on 13 June 2011

Different clinical phenotypes in siblings with a presenilin-1 P264L mutation.

scientific article

Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis

scientific article published on 21 October 2019

Distribution of free methylarginines in rat tissues and in the bovine brain

scientific article published on December 1, 1992

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia ⬇️

scientific article published on September 28, 2011

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

scientific article published on 5 March 2018

Familial semantic dementia with P301L mutation in the Tau gene.

scientific article published on 10 May 2011

Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances

article

Mitochondrial DNA deletion mutations in patients with neuropsychiatric symptoms ⬇️

scientific article published on December 24, 2010

Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece

scientific article published on 21 June 2018

New type of encephalomyelitis responsive to trimethoprim/sulfamethoxazole treatment in Japan

scientific article

Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis

scientific article published on 01 May 2019

Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein

scientific article published on 22 April 2019

Phenotypic abnormalities in a chorea-acanthocytosis mouse model are modulated by strain background.

scientific article published on 24 February 2016

Quetiapine-induced frequent premature ventricular contraction.

scientific article published on 13 January 2012

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

scientific article published on 27 January 2016

Subcellular localization and putative role of VPS13A/chorein in dopaminergic neuronal cells ⬇️

scientific article published on February 15, 2012

The carbohydrate moiety of the activator protein for glucosylceramide β-glucosidase ⬇️

scientific article published on August 15, 1988

The effects of olanzapine treatment on brain regional glucose metabolism in neuroleptic-naive first-episode schizophrenic patients.

scientific article published on November 2016

Working Memory-Related Prefrontal Hemodynamic Responses in University Students: A Correlation Study of Subjective Well-Being and Lifestyle Habits

scientific article published on 13 September 2019

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