Mary G. Sweeney
Queen Square
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 42 publications
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Presenting as Rhabdomyolysis.
Journal: Irish medical journal
Published: May 09, 2022
Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients.
Journal: Frontiers in neurology
Published: July 04, 2021
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Journal: Brain : a journal of neurology
Published: May 24, 2021
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Journal: Human genetics
Published: August 06, 2019
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
Journal: Frontiers in cellular neuroscience
Published: July 30, 2018
PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption.
Journal: Frontiers in cellular neuroscience
Published: January 25, 2018
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
Journal: Lancet (London, England)
Published: April 25, 2017
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.
Journal: Neurology. Genetics
Published: December 19, 2016
The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness.
Journal: Hearing, balance and communication
Published: June 04, 2016
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.
Journal: Brain : a journal of neurology
Published: February 26, 2016
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
Journal: Annals of neurology
Published: November 19, 2015
Last Updated: 09/26/2026