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Publications by Jack Humphrey

Author Correction: Biallelic Expansion of an Intronic Repeat in RFC1 Is a Common Cause of Late-Onset Ataxia

Nature Genetics

English

Prioritizing Parkinson’s Disease Genes Using Population-Scale Transcriptomic Data

Nature Communications

Molecular Biology

English

Related publications

Germ-Line CAG Repeat Instability Causes Extreme CAG Repeat Expansion With Infantile-Onset Spinocerebellar Ataxia Type 2

European Journal of Human Genetics

English

Hairpin Formation in Friedreich's Ataxia Triplet Repeat Expansion

Journal of Biological Chemistry

Molecular Biology

English

A Novel GAA-repeat-expansion-based Mouse Model of Friedreich's Ataxia

DMM Disease Models and Mechanisms

Molecular Biology

English

The Key to FAME: Intronic Repeat Expansions Cause Human Epilepsies

Epilepsy Currents

English

Oculopalatal Tremor and Severe Late-Onset Cerebellar Ataxia

English

Variable Sensory Nerve Conduction Parameters in Late Onset Friedreich Ataxia

Muscle and Nerve

Molecular Neuroscience

English

Repeat Expansion Affects Both Transcription Initiation and Elongation in Friedreich Ataxia Cells

Journal of Biological Chemistry

Molecular Biology

English

C9ORF72expansion Is Not a Significant Cause of Sporadic Spinocerebellar Ataxia

Movement Disorders

English

Population Based Study of Late Onset Cerebellar Ataxia in South East Wales

Journal of Neurology, Neurosurgery and Psychiatry

English