List of works - Hiroyuki Ishiura

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

scientific article published on 22 November 2018

Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review

scientific article published on 30 October 2020

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study

scientific article published on 29 June 2017

Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.

scientific article published on 30 January 2018

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

Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells

scientific article published on 05 April 2019

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

scientific article

Hypertrophic pachymeningitis and tracheobronchial stenosis in IgG4-related disease: case presentation and literature review

scientific article

Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing.

scientific article

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Japan spastic paraplegia research consortium (JASPAC)

scientific article published in November 2010

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

Lymphomatoid Granulomatosis Involving Central Nervous System Successfully Treated With Rituximab Alone

scientific article published on 01 May 2008

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.

scientific article published on 11 September 2017

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

scientific article published on 18 June 2018

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

scientific article published on 09 October 2018

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

scientific article

The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy

scientific article published in Scientific Reports

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes

scientific article published on 12 September 2019

Variants associated with Gaucher disease in multiple system atrophy

scientific article

[Massively parallel sequence analysis for revealing causes of neuromuscular disorders]

scientific article published on 01 November 2010

[Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers]

scientific article published on 01 November 2011

List of works by Hiroyuki Ishiura

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study

Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.

Clinical features of inherited neuropathy with BSCL2 mutations in Japan

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

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

Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

Hypertrophic pachymeningitis and tracheobronchial stenosis in IgG4-related disease: case presentation and literature review

Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Japan spastic paraplegia research consortium (JASPAC)

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

Lymphomatoid Granulomatosis Involving Central Nervous System Successfully Treated With Rituximab Alone

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.

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

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

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

The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes

Variants associated with Gaucher disease in multiple system atrophy

[Massively parallel sequence analysis for revealing causes of neuromuscular disorders]

[Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers]