Haitian Nan

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UBAP 1 mutations cause juvenile-onset hereditary spastic paraplegias ( SPG 80 ) and impair UBAP 1 targeting to endosomes

S. Hamada, S. Tsuji, H. Ishiura, 2019 .

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

S. Hamada, S. Tsuji, H. Ishiura, 2019, Journal of Human Genetics.

WITHDRAWN: Impact of the publication of Chinese treatment guideline on the initial therapy in Parkinson's disease in Beijing

Haibo Chen, Kai Li, Shu-hua Li, 2019, Interdisciplinary Neurosurgery.

Conjugal cerebellar type of multiple system atrophy: Person-to-person transmission?

Z. Yamagata, Y. Takiyama, K. Koh, 2019, Parkinsonism & related disorders.

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

Y. Takiyama, K. Koh, Y. Ichinose, 2019, Internal medicine.

Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report

Liyong Wu, T. Nagasaka, L. Meng, 2022, BMC Neurology.

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report

Y. Takiyama, K. Koh, K. Shindo, 2019, BMC Neurology.

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

P. Rosa-Neto, Liyong Wu, Y. Piao, 2022, Journal of Alzheimer's disease : JAD.

Involvement of striatal motoric subregions in familial frontotemporal dementia with parkinsonism harboring the C9orf72 repeat expansions

P. Rosa-Neto, Liyong Wu, P. Chan, 2022, npj Parkinson's Disease.

Ubap1 knock-in mice reproduced the phenotype of SPG80

S. Koizumi, Y. Takiyama, Hiroaki Nagatomo, 2022, Journal of Human Genetics.

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

Y. Takiyama, T. Hata, Haitian Nan, 2021, Internal medicine.

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

Liyong Wu, Kexin Xie, Min-Liang Chu, 2022, Frontiers in Neurology.

Altered metabolic connectivity within the limbic cortico-striato-thalamo-cortical circuit in presymptomatic and symptomatic behavioral variant frontotemporal dementia

P. Rosa-Neto, Liyong Wu, B. Nie, 2023, Alzheimer's Research & Therapy.

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

Liyong Wu, Min-Liang Chu, Zhongyu Chen, 2022, Viruses.

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

S. Hamada, S. Tsuji, H. Shimazaki, 2019, Molecular genetics & genomic medicine.

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

Y. Takiyama, A. Cortese, K. Koh, 2020, Journal of Human Genetics.

Presence of anti-IgLON5 antibody in a case of sporadic Creutzfeldt–Jakob disease with sleep disturbance as a prominent symptom

Liyong Wu, Zhongyun Chen, Lin Wang, 2022, Neurological Sciences.

Thalamic-insomnia phenotype in E200K Creutzfeldt–Jakob disease: A PET/MRI study

Liyong Wu, Kexin Xie, Min-Liang Chu, 2022, NeuroImage: Clinical.

Proposal of new diagnostic criteria for fatal familial insomnia

A. Garay, I. Ghorayeb, P. Rosa-Neto, 2022, Journal of Neurology.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Novel GARS mutation presenting as autosomal dominant intermediate Charcot‐Marie‐Tooth disease

Y. Takiyama, K. Koh, M. Tsuchiya, 2018, Journal of the peripheral nervous system : JPNS.

A clinical and genetic study of SPG31 in Japan

H. Ishiura, Y. Takiyama, K. Koh, 2022, Journal of Human Genetics.

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

Y. Takiyama, Tomoko Mizuno, Haitian Nan, 2021, BMC Neurology.

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

Y. Takiyama, K. Koh, M. Hashiyada, 2020, Internal medicine.

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

Liyong Wu, Min-Liang Chu, Li Liu, 2023, Journal of Alzheimer's disease : JAD.

Reconfigured metabolism brain network in asymptomatic microtubule-associated protein tau mutation carriers: a graph theoretical analysis

Kewei Chen, P. Rosa-Neto, Liyong Wu, 2022, Alzheimer's research & therapy.

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

Liyong Wu, Ailing Yue, Ningqun Wang, 2023, Journal of Neuroinflammation.

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

N. Hattori, Y. Takiyama, N. Hara, 2021, Journal of Alzheimer's disease : JAD.

Oculomotor Paresis with Cyclic Spasms: Description of Four Cases and Hypothesis of the Mechanism

Haitian Nan, Y. Jing, 2019, Online Journal of Neurology and Brain Disorders.

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

S. Tsuji, H. Ishiura, Y. Takiyama, 2018, Journal of Human Genetics.

Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism

Y. Takiyama, M. Tsuchiya, T. Ohtsuka, 2022, Neurology: Genetics.

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

Y. Takiyama, K. Koh, M. Tsuchiya, 2018, Internal medicine.

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

Y. Takiyama, Tomoko Mizuno, Atsuko Arisaka, 2022, Neurological Sciences.

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

S. Tsuji, H. Ishiura, Y. Takiyama, 2018, Journal of Human Genetics.

Application of the mild behavioral impairment checklist in Chinese patients with the behavioral variant of frontotemporal dementia

Kexin Xie, Min-Liang Chu, Yue Cui, 2023, Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology.

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

Min-Liang Chu, Haitian Nan, Deming Jiang, 2024, Alzheimer's research & therapy.

Atrophy network mapping of clinical subtypes and main symptoms in frontotemporal dementia

P. Rosa-Neto, Min-Liang Chu, Shaozhen Yan, 2024, Brain : a journal of neurology.