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Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

Journal of human genetics, 2023-03, Vol.68 (3), p.131-152

2023

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Progressive patterns of neurological disability in multiple sclerosis and neuromyelitis optica spectrum disorders

Scientific reports, 2020-08, Vol.10 (1), p.13890-13890, Article 13890

2020

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Impact of comorbid Sjögren syndrome in anti-aquaporin-4 antibody-positive neuromyelitis optica spectrum disorders

Journal of neurology, 2021-05, Vol.268 (5), p.1938-1944

2021

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Relapse activity in the chronic phase of anti-myelin-oligodendrocyte glycoprotein antibody-associated disease

Journal of neurology, 2022-06, Vol.269 (6), p.3136-3146

2022

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Omics Approach to Axonal Dysfunction of Motor Neurons in Amyotrophic Lateral Sclerosis (ALS)

Frontiers in neuroscience, 2020-03, Vol.14, p.194-194

2020

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Diagnostic implications of MOG-IgG detection in sera and cerebrospinal fluids

Brain (London, England : 1878), 2023-09, Vol.146 (9), p.3938-3948

2023

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Repeated follow-up of AQP4-IgG titer by cell-based assay in neuromyelitis optica spectrum disorders (NMOSD)

Journal of the neurological sciences, 2020-03, Vol.410, p.116671-116671, Article 116671

2020

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Myelin oligodendrocyte glycoprotein antibody-associated disease: an immunopathological study

Brain (London, England : 1878), 2020-05, Vol.143 (5), p.1431-1446

2020

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Distinction between MOG antibody-positive and AQP4 antibody-positive NMO spectrum disorders

Neurology, 2014-02, Vol.82 (6), p.474-481

2014

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Feeder-supported in vitro exercise model using human satellite cells from patients with sporadic inclusion body myositis

Scientific reports, 2022-01, Vol.12 (1), p.1082-1082, Article 1082

2022

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CSF cytokine profile in MOG-IgG+ neurological disease is similar to AQP4-IgG+ NMOSD but distinct from MS: a cross-sectional study and potential therapeutic implications

Journal of neurology, neurosurgery and psychiatry, 2018-09, Vol.89 (9), p.927-936

2018

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Pathology of myelin oligodendrocyte glycoprotein antibody-associated disease: a comparison with multiple sclerosis and aquaporin 4 antibody-positive neuromyelitis optica spectrum disorders

Frontiers in neurology, 2023-07, Vol.14, p.1209749-1209749

2023

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White blood cell count profiles in multiple sclerosis during attacks before the initiation of acute and chronic treatments

Scientific reports, 2021-11, Vol.11 (1), p.22357-22357, Article 22357

2021

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Staging of astrocytopathy and complement activation in neuromyelitis optica spectrum disorders

Brain (London, England : 1878), 2021-09, Vol.144 (8), p.2401-2415

2021

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Mutations of optineurin in amyotrophic lateral sclerosis

Nature (London), 2010-05, Vol.465 (7295), p.223-226

2010

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Calculating and Comparing the Annualized Relapse Rate and Estimating the Confidence Interval in Relapsing Neurological Diseases

Frontiers in neurology, 2022-06, Vol.13, p.875456-875456

2022

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VPS35 dysfunction impairs lysosomal degradation of α-synuclein and exacerbates neurotoxicity in a Drosophila model of Parkinson's disease

Neurobiology of disease, 2014-11, Vol.71, p.1-13

2014

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The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain

Human mutation, 2020-09, Vol.41 (9), p.1540-1554

2020

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In vitro exercise model using contractile human and mouse hybrid myotubes

Scientific reports, 2019-08, Vol.9 (1), p.11914-9, Article 11914

2019

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Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis

Neurobiology of aging, 2017-05, Vol.53, p.194.e1-194.e8

2017

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A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy

Journal of human genetics, 2021-10, Vol.66 (10), p.965-972

2021

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Pathogenic mutations in the ALS gene CCNF cause cytoplasmic mislocalization of Cyclin F and elevated VCP ATPase activity

Human molecular genetics, 2019-10, Vol.28 (20), p.3486-3497

2019

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DnaJ/Hsp40 Family and Parkinson's Disease

Frontiers in neuroscience, 2018-01, Vol.11, p.743-743

2018

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Risk factors of attacks in neuromyelitis optica spectrum disorders

Journal of neuroimmunology, 2020-06, Vol.343, p.577236-577236, Article 577236

2020

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Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

Progressive patterns of neurological disability in multiple sclerosis and neuromyelitis optica spectrum disorders

Impact of comorbid Sjögren syndrome in anti-aquaporin-4 antibody-positive neuromyelitis optica spectrum disorders

Relapse activity in the chronic phase of anti-myelin-oligodendrocyte glycoprotein antibody-associated disease

Omics Approach to Axonal Dysfunction of Motor Neurons in Amyotrophic Lateral Sclerosis (ALS)

Diagnostic implications of MOG-IgG detection in sera and cerebrospinal fluids

Repeated follow-up of AQP4-IgG titer by cell-based assay in neuromyelitis optica spectrum disorders (NMOSD)

Myelin oligodendrocyte glycoprotein antibody-associated disease: an immunopathological study

Distinction between MOG antibody-positive and AQP4 antibody-positive NMO spectrum disorders

Feeder-supported in vitro exercise model using human satellite cells from patients with sporadic inclusion body myositis

CSF cytokine profile in MOG-IgG+ neurological disease is similar to AQP4-IgG+ NMOSD but distinct from MS: a cross-sectional study and potential therapeutic implications

Pathology of myelin oligodendrocyte glycoprotein antibody-associated disease: a comparison with multiple sclerosis and aquaporin 4 antibody-positive neuromyelitis optica spectrum disorders

Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001)

White blood cell count profiles in multiple sclerosis during attacks before the initiation of acute and chronic treatments

Staging of astrocytopathy and complement activation in neuromyelitis optica spectrum disorders

Mutations of optineurin in amyotrophic lateral sclerosis

Calculating and Comparing the Annualized Relapse Rate and Estimating the Confidence Interval in Relapsing Neurological Diseases

VPS35 dysfunction impairs lysosomal degradation of α-synuclein and exacerbates neurotoxicity in a Drosophila model of Parkinson's disease

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain

In vitro exercise model using contractile human and mouse hybrid myotubes

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis

A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy

Pathogenic mutations in the ALS gene CCNF cause cytoplasmic mislocalization of Cyclin F and elevated VCP ATPase activity

DnaJ/Hsp40 Family and Parkinson's Disease

Risk factors of attacks in neuromyelitis optica spectrum disorders

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