Alisdair McNeill

Alisdair McNeill

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Alisdair McNeill

Alisdair McNeill

Publications by authors named "Alisdair McNeill"

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Evolution and clustering of prodromal parkinsonian features in GBA1 carriers.

Mov Disord 2019 Sep 28;34(9):1365-1373. Epub 2019 Jun 28.

Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, United Kingdom.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mds.27775
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http://dx.doi.org/10.1002/mds.27775DOI Listing
September 2019

Movement Disorders in Adults with 22q11 Deletion Syndrome.

Authors:
Alisdair McNeill

Mov Disord Clin Pract 2019 Apr 19;6(4):339. Epub 2019 Mar 19.

Department of Neuroscience The University of Sheffield Sheffield United Kingdom.

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http://dx.doi.org/10.1002/mdc3.12752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476592PMC
April 2019

Editorial for Special Issue: "Diagnosis of Neurogenetic Disorders: Contribution of Next-Generation Sequencing and Deep Phenotyping".

Authors:
Alisdair McNeill

Brain Sci 2019 Mar 26;9(3). Epub 2019 Mar 26.

Department of Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, UK.

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http://dx.doi.org/10.3390/brainsci9030072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6468541PMC
March 2019

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Am J Hum Genet 2019 Feb 17;104(2):246-259. Epub 2019 Jan 17.

Department of Surgery/Division of Orthopaedic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369454PMC
February 2019

The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review.

Am J Med Genet A 2018 10 25;176(10):2215-2225. Epub 2018 Mar 25.

Sheffield Institute of Translational Neuroscience, The University of Sheffield, Sheffield, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.38673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221171PMC
October 2018

Are congenital anomalies of the kidney and urinary tract part of the SOX11 syndrome?

Authors:
Alisdair McNeill

Kidney Int 2018 10;94(4):826-827

University of Sheffield, The Sheffield Institute for Translational Neuroscience, Sheffield, South Yorkshire, UK. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2018.06.014DOI Listing
October 2018

A systematic review of the gait characteristics associated with Cerebellar Ataxia.

Gait Posture 2018 Feb 1;60:154-163. Epub 2017 Dec 1.

Department of Neuroscience, University of Sheffield, UK; INSIGNEO Institute for In Silico Medicine, University of Sheffield, UK; Sheffield Children's Hospital, UK. Electronic address:

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http://dx.doi.org/10.1016/j.gaitpost.2017.11.024DOI Listing
February 2018

Hyposmia, symptoms of rapid eye movement sleep behavior disorder, and parkinsonian motor signs suggest prodromal neurodegeneration in 22q11 deletion syndrome.

Neuroreport 2017 Aug;28(11):677-681

aDepartment of Neuroscience, Sheffield Institute for Translational Neuroscience bDepartment of Engineering, Insigneo Institute for In Silico Medicine, The University of Sheffield cSheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.

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http://Insights.ovid.com/crossref?an=00001756-201708020-0001
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http://dx.doi.org/10.1097/WNR.0000000000000815DOI Listing
August 2017

A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy.

Am J Med Genet A 2017 04 27;173(4):1128-1130. Epub 2017 Feb 27.

Sheffield Institute for Translational Neuroscience, Sheffield, South Yorkshire, UK.

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http://dx.doi.org/10.1002/ajmg.a.38136DOI Listing
April 2017

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

J Med Genet 2016 Mar 5;53(3):152-62. Epub 2015 Nov 5.

INSIGNEO Institute for in silico medicine, Sheffield University, Sheffield, UK Sheffield Institute for Translational Neuroscience, Sheffield University, Sheffield, UK Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789813PMC
March 2016

Lysosomal dysfunction in Parkinson's disease.

Authors:
Alisdair McNeill

Brain 2015 Apr 11;138(Pt 4):e339. Epub 2014 Sep 11.

Sheffield Institute of Translational Neuroscience, Glossop Road, Sheffield, UK

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http://dx.doi.org/10.1093/brain/awu266DOI Listing
April 2015

Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.

JAMA Neurol 2015 Feb;72(2):201-8

Department of Clinical Neurosciences, Institute of Neurology, University College London, London, England.

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http://dx.doi.org/10.1001/jamaneurol.2014.2950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326672PMC
February 2015

Is elevated beta-hexosaminidase activity a potential biomarker for Parkinson's disease?

Authors:
Alisdair McNeill

Mov Disord 2014 Sep 30;29(10):1328-9. Epub 2014 Jul 30.

West Midlands Regional Clinical Genetics Service, Birmingham Women≈s Hospital, B15 2TG, United Kingdom.

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http://dx.doi.org/10.1002/mds.25972DOI Listing
September 2014

Visual short-term memory deficits associated with GBA mutation and Parkinson's disease.

Brain 2014 Aug 11;137(Pt 8):2303-11. Epub 2014 Jun 11.

1 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK2 Department of Experimental Psychology, University of Oxford, Oxford, OX1 3UD, UK.

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http://dx.doi.org/10.1093/brain/awu143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107740PMC
August 2014

Neuroferritinopathy: update on clinical features and pathogenesis.

Curr Drug Targets 2012 Aug;13(9):1200-3

Department of Clinical Neurosciences, UCL Institute of Neurology, Upper Level 3, UCL Medical School, Royal Free Hospital, Pond Street, NW3 2PF, UK.

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http://dx.doi.org/10.2174/138945012802002375DOI Listing
August 2012

PLA2G6 mutations and other rare causes of neurodegeneration with brain iron accumulation.

Authors:
Alisdair McNeill

Curr Drug Targets 2012 Aug;13(9):1204-6

Department of Clinical Neurosciences, UCL Institute of Neurology, Upper Level 3, UCL Medical School, Royal Free Hospital, Pond Street, NW3 2PF, UK.

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http://dx.doi.org/10.2174/138945012802002401DOI Listing
August 2012

Novel pathogenic mutations in the glucocerebrosidase locus.

Mol Genet Metab 2012 Aug 18;106(4):495-7. Epub 2012 May 18.

Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.ymgme.2012.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3426931PMC
August 2012

Hyposmia and cognitive impairment in Gaucher disease patients and carriers.

Mov Disord 2012 Apr 16;27(4):526-32. Epub 2012 Feb 16.

Department of Clinical Neuroscience, University College London Institute of Neurology, Royal Free Hospital, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.24945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188387PMC
April 2012

Neurodegeneration with brain iron accumulation.

Handb Clin Neurol 2011 ;100:161-72

Department of Clinical Neurosciences, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1016/B978-0-444-52014-2.00009-4DOI Listing
July 2011

Genotype-phenotype correlations in VHL exon deletions.

Am J Med Genet A 2009 Oct;149A(10):2147-51

Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1002/ajmg.a.33023DOI Listing
October 2009

The neurological presentation of ceruloplasmin gene mutations.

Eur Neurol 2008 30;60(4):200-5. Epub 2008 Jul 30.

Department of Clinical Genetics, NIHR, Birmingham Women's Hospital, Birmingham, UK.

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https://www.karger.com/Article/FullText/148691
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http://dx.doi.org/10.1159/000148691DOI Listing
December 2008

Failure of colonic anastomosis in a patient with colonic scleroderma.

Authors:
Alisdair McNeill

Int J Colorectal Dis 2007 Jul 12;22(7):841-2. Epub 2005 Jul 12.

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http://dx.doi.org/10.1007/s00384-005-0774-xDOI Listing
July 2007

Chorea induced by low-dose trazodone.

Authors:
Alisdair McNeill

Eur Neurol 2006 21;55(2):101-2. Epub 2006 Apr 21.

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http://dx.doi.org/10.1159/000092784DOI Listing
October 2006

Prion protein accumulation and neuroprotection in hypoxic brain damage.

Am J Pathol 2004 Jul;165(1):227-35

National Creutzfeldt-Jakob Disease Surveillance Unit and Pathology (Neuropathology), School of Molecular and Clinical Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, Scotland, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1618524PMC
http://dx.doi.org/10.1016/S0002-9440(10)63291-9DOI Listing
July 2004

Clinical diagnosis of cervical dystonia.

Eur J Gen Pract 2004 Jun;10(2):73-4; discussion 74

College of Medicines, University of Edinburgh, Teviot Place, Edinburgh, UK.

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http://dx.doi.org/10.3109/13814780409094239DOI Listing
June 2004