List of works by Jun Mitsui

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

Clinical features of inherited neuropathy with BSCL2 mutations in Japan

scientific article published on 28 February 2020

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19

scientific article

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

scientific article published on 5 March 2018

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population

scientific article published on 12 September 2020

Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines

scientific article

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

scientific article published on 22 July 2019

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia

scientific article published on 09 October 2018

Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.

scientific article published on 29 March 2018

TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.

scientific article

Variants associated with Gaucher disease in multiple system atrophy

scientific article

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