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Causal effects of dietary composition on multiple sclerosis risk and severity: a Mendelian randomization study

Frontiers in nutrition (Lausanne), 2024-05, Vol.11, p.1410745

Nan, Haitian

2024

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Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review

Journal of Alzheimer's disease, 2023-01, Vol.93 (1), p.225

2023

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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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Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia

Clinical genetics, 2023-09, Vol.104 (3), p.350-355

2023

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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 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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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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Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review

Journal of Alzheimer's disease, 2022-01, Vol.90 (3), p.1139

2022

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

Journal of human genetics, 2019-11, Vol.64 (11), p.1055-1065

2019

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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 novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism

Frontiers in neurology, 2022-11, Vol.13, p.1005544-1005544

2022

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Vascular dysfunction in sporadic bvFTD: white matter hyperintensity and peripheral vascular biomarkers

Alzheimer's research & therapy, 2024-04, Vol.16 (1), p.72-10, Article 72

2024

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Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5

Internal Medicine, 2019/03/01, Vol.58(5), pp.719-722

2019

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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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Clinical, Genetic, and Pathological Features of very Early Onset Frontotemporal Lobe Degeneration: A Systematic Review

Current Alzheimer research, 2023, Vol.19 (13), p.870

2023

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Peripheral inflammation in behavioural variant frontotemporal dementia: associations with central degeneration and clinical measures

Journal of neuroinflammation, 2023-03, Vol.20 (1), p.65-65, Article 65

2023

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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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Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations

Alzheimer's research & therapy, 2024-06, Vol.16 (1), p.127-24, Article 127

2024

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A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer's Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-β Protein Precursor

Journal of Alzheimer's disease, 2021-01, Vol.84 (2), p.599

2021

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Amino Acid Substitution within Seven-Octapeptide Repeat Insertions in the Prion Protein Gene Associated with Short-Term Course

Viruses, 2022-10, Vol.14 (10), p.2245

2022

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Okur‐Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion

Molecular genetics & genomic medicine, 2024-03, Vol.12 (3), p.e2398-n/a

2024

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Causal effects of dietary composition on multiple sclerosis risk and severity: a Mendelian randomization study

Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review

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

Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia

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

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

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

Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review

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

Ubap1 knock-in mice reproduced the phenotype of SPG80

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

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

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 novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism

Vascular dysfunction in sporadic bvFTD: white matter hyperintensity and peripheral vascular biomarkers

Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5

A clinical and genetic study of SPG31 in Japan

Clinical, Genetic, and Pathological Features of very Early Onset Frontotemporal Lobe Degeneration: A Systematic Review

Peripheral inflammation in behavioural variant frontotemporal dementia: associations with central degeneration and clinical measures

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

Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations

A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer's Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-β Protein Precursor

Amino Acid Substitution within Seven-Octapeptide Repeat Insertions in the Prion Protein Gene Associated with Short-Term Course

Okur‐Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion

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