Genetics of movement disorders and ataxia

Large-scale visualization of α-synuclein oligomers in Parkinson's disease brain tissue.

Nature biomedical engineering·2025

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Brain communications·2025

Patients with neurological or psychiatric complications of COVID-19 have worse long-term functional outcomes: COVID-CNS-A multicentre case-control study.

Scientific reports·2025

Ancestry-specific gene expression in peripheral monocytes mediates risk of neurodegenerative disease.

bioRxiv : the preprint server for biology·2025

Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

NPJ Parkinson's disease·2024

Repeat expansion disorders.

Practical neurology·2024

Presymptomatic plasma biomarkers in autosomal dominant Alzheimer's disease: sequence and timing.

Journal of neurology, neurosurgery, and psychiatry·2026

Balancing Benefits and Risks: Long-term Use of Daily versus Intermittent Corticosteroids in Duchenne Muscular Dystrophy.

Journal of neurology, neurosurgery, and psychiatry·2026

Epilepsy and education: a nationwide cohort study.

Journal of neurology, neurosurgery, and psychiatry·2026

Comparative effectiveness of ofatumumab and ocrelizumab in relapsing multiple sclerosis: a target trial emulation using multinational registry data.

Journal of neurology, neurosurgery, and psychiatry·2026

Iatrogenic cerebral amyloid angiopathy: a scoping review.

Journal of neurology, neurosurgery, and psychiatry·2026

Associations of self-reported and objectively measured physical activity and amyotrophic lateral sclerosis risk.

Journal of neurology, neurosurgery, and psychiatry·2026

[Autism - Phenotypic variability].

Medicina·2026

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

Neurogenetics·2026

A Novel Mutation in ACTG1 as the Probable Cause of Nonsyndromic Hearing Loss in Chinese Han Population.

Neural plasticity·2026

Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate.

Frontiers in genetics·2026

Two Novel Compound Heterozygous CDH23 Mutations Underlying Non-Syndromic Hearing Loss.

International journal of general medicine·2026

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Molecular genetics & genomic medicine·2026

Related Experiment Videos

Genetics of movement disorders and ataxia

Related Concept Videos

Large-scale visualization of α-synuclein oligomers in Parkinson's disease brain tissue.

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Patients with neurological or psychiatric complications of COVID-19 have worse long-term functional outcomes: COVID-CNS-A multicentre case-control study.

Ancestry-specific gene expression in peripheral monocytes mediates risk of neurodegenerative disease.

Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

Repeat expansion disorders.

Presymptomatic plasma biomarkers in autosomal dominant Alzheimer's disease: sequence and timing.

Balancing Benefits and Risks: Long-term Use of Daily versus Intermittent Corticosteroids in Duchenne Muscular Dystrophy.

Epilepsy and education: a nationwide cohort study.

Comparative effectiveness of ofatumumab and ocrelizumab in relapsing multiple sclerosis: a target trial emulation using multinational registry data.

Iatrogenic cerebral amyloid angiopathy: a scoping review.

Associations of self-reported and objectively measured physical activity and amyotrophic lateral sclerosis risk.

[Autism - Phenotypic variability].

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

A Novel Mutation in ACTG1 as the Probable Cause of Nonsyndromic Hearing Loss in Chinese Han Population.

Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate.

Two Novel Compound Heterozygous CDH23 Mutations Underlying Non-Syndromic Hearing Loss.

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Related Experiment Videos

Genetics of movement disorders and ataxia

Related Concept Videos

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