Compound heterozygosity and variable penetrance in SOD1 amyotrophic lateral sclerosis pedigrees

Fasciculation electromechanical latency is prolonged in amyotrophic lateral sclerosis.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology·2022

Demystifying the spontaneous phenomena of motor hyperexcitability.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology·2021

Preprocessing surface EMG data removes voluntary muscle activity and enhances SPiQE fasciculation analysis.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology·2019

Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis.

Annals of the rheumatic diseases·2017

Establishing the UK DNA Bank for motor neuron disease (MND).

BMC genetics·2015

Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport.

Neuroscience·2015

Therapeutic Prospects of Ketamine for Cataplexy in Narcolepsy Type 1: Evidence from a Human Case and a Murine Model.

Annals of neurology·2026

Cortical Thickness and White Matter Surface Morphology in Tourette Syndrome: A Cohort Study.

Annals of neurology·2026

Accelerated Brain Atrophy in Epilepsy: A Prospective Population-Based Study.

Annals of neurology·2026

Challenges in Studying Synapses in Alzheimer's Disease.

Annals of neurology·2026

Associations between Pre-Disease Biomarkers of Persistent Organic Pollutants and Amyotrophic Lateral Sclerosis Survival in the Danish Diet, Cancer and Health Study Cohort.

Annals of neurology·2026

Cross-Sectional and Longitudinal Diagnostic Performance of Plasma p-tau217 and p-tau217/Aβ42 in Alzheimer's Disease.

Annals of neurology·2026

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

Brain : a journal of neurology·2026

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Therapeutic advances in rare disease·2026

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Journal of human genetics·2026

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

Science (New York, N.Y.)·2026

Related Experiment Videos

Compound heterozygosity and variable penetrance in SOD1 amyotrophic lateral sclerosis pedigrees

Related Concept Videos

Fasciculation electromechanical latency is prolonged in amyotrophic lateral sclerosis.

Demystifying the spontaneous phenomena of motor hyperexcitability.

Preprocessing surface EMG data removes voluntary muscle activity and enhances SPiQE fasciculation analysis.

Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis.

Establishing the UK DNA Bank for motor neuron disease (MND).

Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport.

Therapeutic Prospects of Ketamine for Cataplexy in Narcolepsy Type 1: Evidence from a Human Case and a Murine Model.

Cortical Thickness and White Matter Surface Morphology in Tourette Syndrome: A Cohort Study.

Accelerated Brain Atrophy in Epilepsy: A Prospective Population-Based Study.

Challenges in Studying Synapses in Alzheimer's Disease.

Associations between Pre-Disease Biomarkers of Persistent Organic Pollutants and Amyotrophic Lateral Sclerosis Survival in the Danish Diet, Cancer and Health Study Cohort.

Cross-Sectional and Longitudinal Diagnostic Performance of Plasma p-tau217 and p-tau217/Aβ42 in Alzheimer's Disease.

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

Related Experiment Videos

Compound heterozygosity and variable penetrance in SOD1 amyotrophic lateral sclerosis pedigrees

Related Concept Videos

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