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RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia

Journal of human genetics, 2020-12, Vol.65 (12), p.1143-1147

2020

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

Nature genetics, 2018-04, Vol.50 (4), p.581-590

2018

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Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

Brain (London, England : 1878), 2016-12, Vol.139 (Pt 12), p.3170-3186

2016

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A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature

BMC neurology, 2021-11, Vol.21 (1), p.1-439, Article 439

2021

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Ubap1 knock-in mice reproduced the phenotype of SPG80

Journal of human genetics, 2022-12, Vol.67 (12), p.679-686

2022

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A Nepalese family with an REEP2 mutation: clinical and genetic study

Journal of human genetics, 2021-07, Vol.66 (7), p.749-752

2021

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Repeated Brain Magnetic Resonance Imaging Provides Clues for the Diagnosis of Autoimmune Glial Fibrillary Acid Protein Astrocytopathy

Internal Medicine, 2022/10/01, Vol.61(19), pp.2947-2950

2022

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Variants in saposin D domain of prosaposin gene linked to Parkinson's disease

Brain (London, England : 1878), 2020-04, Vol.143 (4), p.1190-1205

2020

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A treatable case of autoimmune GFAP astrocytopathy presenting chronic progressive cognitive impairment

Neurological sciences, 2020-10, Vol.41 (10), p.2999-3002

2020

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Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation

Internal Medicine, 2021/01/01, Vol.60(1), pp.141-144

2021

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Exogenous parathyroid hormone attenuates ovariectomy-induced skeletal muscle weakness in vivo

Bone (New York, N.Y.), 2021-10, Vol.151, p.116029-116029, Article 116029

2021

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Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia

Journal of human genetics, 2022-02, Vol.67 (2), p.119-121

2022

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A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum

Neurological sciences, 2022-03, Vol.43 (3), p.2123-2126

2022

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

Journal of human genetics, 2019-01, Vol.64 (1), p.55-59

2019

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A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

Human genome variation, 2022-07, Vol.9 (1), p.27-27, Article 27

2022

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MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations

Internal Medicine, 2021/12/15, Vol.60(24), pp.3969-3974

2021

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A clinical and genetic study of SPG31 in Japan

Journal of human genetics, 2022-07, Vol.67 (7), p.421-425

2022

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JASPAC: Japan Spastic Paraplegia Research Consortium

Brain sciences, 2018-08, Vol.8 (8), p.153

2018

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SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report

BMC neurology, 2021-02, Vol.21 (1), p.64-64, Article 64

2021

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Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene

Internal Medicine, 2019/08/15, Vol.58(16), pp.2397-2400

2019

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Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis

Internal Medicine, 2018/11/01, Vol.57(21), pp.3183-3186

2018

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Neuropathology, 2006-08, Vol.26 (4), p.368-375

Takiyama, Yoshihisa

2006

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The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

Brain (London, England : 1878), 2023-05, Vol.146 (5), p.2003-2015

2023

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A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene

Internal Medicine, 2020/09/15, Vol.59(18), pp.2311-2315

2020

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Paraneoplastic sensorimotor neuropathy associated with mediastinal germ cell tumor: favorable outcome after high-dose intravenous immunoglobulin therapy

Neurological sciences, 2020-03, Vol.41 (3), p.723-725

2020

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RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia

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

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature

Ubap1 knock-in mice reproduced the phenotype of SPG80

A Nepalese family with an REEP2 mutation: clinical and genetic study

Repeated Brain Magnetic Resonance Imaging Provides Clues for the Diagnosis of Autoimmune Glial Fibrillary Acid Protein Astrocytopathy

Variants in saposin D domain of prosaposin gene linked to Parkinson's disease

A treatable case of autoimmune GFAP astrocytopathy presenting chronic progressive cognitive impairment

Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation

Exogenous parathyroid hormone attenuates ovariectomy-induced skeletal muscle weakness in vivo

Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia

A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum

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

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations

A clinical and genetic study of SPG31 in Japan

JASPAC: Japan Spastic Paraplegia Research Consortium

SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report

Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene

Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene

Paraneoplastic sensorimotor neuropathy associated with mediastinal germ cell tumor: favorable outcome after high-dose intravenous immunoglobulin therapy

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