Una-marie M. Sheerin

Queen Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 20 publications

Case of Aicardi-Goutières syndrome diagnosed in adulthood on whole-genome sequencing.

Case of Aicardi-Goutières syndrome diagnosed in adulthood on whole-genome sequencing.

Journal: BMJ neurology open

Published: October 10, 2025

Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience.

Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience.

Journal: American journal of medical genetics. Part A

Published: October 01, 2021

Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.

Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.

Journal: Neurobiology of aging

Published: August 23, 2016

Exome Sequencing Identifies a Novel Homozygous Missense ATP13A2 Mutation.

Exome Sequencing Identifies a Novel Homozygous Missense ATP13A2 Mutation.

Journal: Movement disorders clinical practice

Published: February 06, 2016

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: March 11, 2015

The entity of parkinsonism and associated lipomatosis.

The entity of parkinsonism and associated lipomatosis.

Journal: Neurology

Published: October 03, 2014

Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes.

Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes.

Journal: Brain : a journal of neurology

Published: June 22, 2014

Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration.

Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration.

Journal: Human molecular genetics

Published: April 18, 2014

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

Journal: Neurology

Published: February 25, 2014

Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.

Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: December 14, 2013

Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.

Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.

Journal: Movement disorders clinical practice

Published: November 20, 2013

Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.

Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: October 14, 2013

Showing 1-12 of 20

Last Updated: 09/26/2026