Search filters

List of works by Haruo Shimazaki

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

scientific article published in December 2012

A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy

scientific article

Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature

scientific article

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

scientific article published on 12 February 2014

Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease

scientific article

Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS.

scientific article published on 23 January 2012

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation

article

Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay

article

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment

scientific article published on 18 June 2018

VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia

scientific article published on 26 December 2019

Paulina is supported by:

About Paulina

Help