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List of works by Sinéad Murphy

A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family

scientific article published on 28 September 2014

A novel locus for episodic ataxia:UBR4 the likely candidate

scientific article published on 28 August 2013

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

scientific article published in March 2011

A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2

scientific article published on 01 June 2012

A painful right leg

scientific article published on 16 March 2011

A pilot study of proximal strength training in Charcot-Marie-Tooth disease

scientific article published in December 2014

An unusual cause of cavernous sinus syndrome ⬇️

scientific article published on December 30, 2009

Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes

scientific article published on 04 January 2011

Asymmetric sensory ganglionopathy: a case series

scientific article published on 06 June 2013

BAG3 mutations: another cause of giant axonal neuropathy

scientific article published on 01 June 2012

Bilateral posterior cerebral artery infarction.

scientific article published on December 2010

Charcot-Marie-Tooth disease

scientific article published on 01 March 2011

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

scientific article published on 22 January 2018

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls

scientific article published on 31 July 2012

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation

scientific article published on 21 January 2011

Counting the cost of complementary and alternative therapies in an Irish neurological clinic.

scientific article published in December 2008

Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence

scientific article published in August 2009

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

scientific article published on 01 August 2015

Exploring implementation of the Careful Nursing Philosophy and Professional Practice Model(©) in hospital-based practice

scientific article

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

scientific article

Hand weakness in Charcot-Marie-Tooth disease 1X

scientific article published on 28 March 2012

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.

scientific article published on 08 May 2013

How well is peripheral neuropathy investigated? An audit from a regional neurophysiology department

scientific article published on 01 January 2006

Isolated hypoglossal nerve palsy due to compression by a dissecting vertebral artery

scientific article published on 28 May 2004

Knee bobbing in Charcot–Marie–Tooth disease: Figure 1 ⬇️

scientific article published on June 1, 2012

L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration.

scientific article published in January 2010

NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family

scientific article published on 3 June 2016

Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity

scientific article

Phenotype expression in women with CMT1X

scientific article published on 01 June 2011

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

scientific article

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene

scientific article published on 08 October 2016

Postpartum relapsing sensory neuritis responsive to intravenous immunoglobulin

scientific article published on 01 December 2009

Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis

scientific article

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

scientific article

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits.

scientific article published on 3 November 2012

The spectrum of axonopathies: from CMT2 to HSP

scientific article published on 09 July 2014

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

Transthoracic echocardiography is not useful in the routine investigation of ischaemic stroke or TIA.

scientific article published in May 2008

Unintended effects of orphan product designation for rare neurological diseases.

scientific article

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.

scientific article published on 26 September 2017

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