Alan M Pittman

Alan M Pittman

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Alan M Pittman

Alan M Pittman

Publications by authors named "Alan M Pittman"

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Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.

Neuromuscul Disord 2019 Oct 19;29(10):747-757. Epub 2019 Aug 19.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.003DOI Listing
October 2019

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in -Related Diseases.

J Clin Med 2019 07 8;8(7). Epub 2019 Jul 8.

MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

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http://dx.doi.org/10.3390/jcm8070991DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679130PMC
July 2019

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Neurol Genet 2019 Apr 1;5(2):e322. Epub 2019 Apr 1.

Department of Neuromuscular Diseases (A.H., A.C., M.G.H., M.M.R.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Molecular Neuroscience (A.M.P., H.H.), UCL Queen Square Institute of Neurology; Department of Neuro-ophthalmology (F.B.F.R.C.O.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Division of Neuropathology (Z.J., S.B.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Clinical and Movement Neurosciences (Z.J.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (L.D., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Human Genetics and Hussman Institute for Human Genomics (A.P.R., S.Z.), University of Miami, FL; Department of Neurogenetics (C.E.W., J.M.P.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Neurometabolic Unit (I.P.H.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; and Department of Neurodegenerative Disease (S.B.), UCL Queen Square Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501639PMC
April 2019

Homozygous mutation in causing distal vacuolar myopathy and motor neuropathy.

Neurol Genet 2017 Aug 6;3(4):e168. Epub 2017 Jul 6.

MRC Centre for Neuromuscular Diseases (E.B., A.M.R., J.C.B., M.G.H., J.L.H., M.M.R., E.M.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., A.M.P., M.G.H., H.H., J.L.H.), and Division of Neuropathology (J.L.H.), UCL Institute of Neurology, London; Department of Neurology (M.S.), The Royal London Hospital; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499975PMC
August 2017

Clinicopathologic and molecular spectrum of -related mitochondrial disease.

Neurol Genet 2017 Jun 2;3(3):e149. Epub 2017 May 2.

MRC Centre for Neuromuscular Diseases (E.B., O.V.P., A.M., A.H., J.L.H., H.H., M.G.H., R.D.S.P.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (A.M., A.M.P., J.L.H., H.H., M.G.H.), Division of Neuropathology (J.L.H.), Department of Clinical Neuroscience (J.-W.T., A.S., I.J.H.), UCL Institute of Neurology; Neurometabolic Unit (I.H.), Neurogenetics Unit (C.E.W., M.G.S.), Department of Neuro-ophthalmology (G.T.P.), National Hospital for Neurology and Neurosurgery, London; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; MRC-Mitochondrial Biology Unit (M.Z.), Cambridge, UK; Unit of Molecular Neurogenetics (D.G.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy; Oxford Medical Genetics Laboratories (J.T., C.S., C.F.), Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, UK; Department of Neurology (M.A.K.), Nizam's Institute of Medical Sciences; CSIR-Centre for Cellular and Molecular Biology (A.P., K.T.), Hyderabad, Telangana, India; MRC Mill Hill Laboratory (I.J.H.), London, UK; Biodonostia Research Institute (I.J.H.), San Sebastián, Spain; and Department of Basic and Clinical Neuroscience (R.D.S.P.), Institute of Psychiatry, Psychology and Neuroscience, King's College London, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413961PMC
June 2017

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Neurobiol Aging 2016 11 8;47:218.e1-218.e9. Epub 2016 Aug 8.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK; Neurogenetics Laboratory, Institute of Neurology, University College London, Queen Square, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.07.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082791PMC
November 2016

Analysis of the genetic variability in Parkinson's disease from Southern Spain.

Neurobiol Aging 2016 Jan 8;37:210.e1-210.e5. Epub 2015 Oct 8.

Department of Molecular Neuroscience, Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.09.020DOI Listing
January 2016

Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Brain 2015 May 14;138(Pt 5):e352. Epub 2014 Nov 14.

1 Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK

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http://dx.doi.org/10.1093/brain/awu309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407186PMC
May 2015

MLH1-93G > A is a risk factor for MSI colorectal cancer.

Carcinogenesis 2011 Aug 11;32(8):1157-61. Epub 2011 May 11.

Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK.

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http://dx.doi.org/10.1093/carcin/bgr089DOI Listing
August 2011

The CDH1-160C>A polymorphism is a risk factor for colorectal cancer.

Int J Cancer 2009 Oct;125(7):1622-5

Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK.

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http://dx.doi.org/10.1002/ijc.24542DOI Listing
October 2009

Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease.

Neurobiol Aging 2009 Sep 26;30(9):1477-82. Epub 2007 Dec 26.

Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2007.11.019DOI Listing
September 2009

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.

Nat Genet 2008 May 30;40(5):623-30. Epub 2008 Mar 30.

Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London WC2A 3PX, UK.

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http://dx.doi.org/10.1038/ng.111DOI Listing
May 2008

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy.

Mov Disord 2007 Apr;22(6):895-7

The Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.21393DOI Listing
April 2007

Untangling the tau gene association with neurodegenerative disorders.

Hum Mol Genet 2006 Oct;15 Spec No 2:R188-95

Reta Lila Weston Institute of Neurological Studies, University College London, 1, Wakefield Street, London WC1N 1PJ, UK.

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http://dx.doi.org/10.1093/hmg/ddl190DOI Listing
October 2006

Development, characterisation and epitope mapping of novel monoclonal antibodies for DJ-1 (PARK7) protein.

Neurosci Lett 2005 Aug 25;383(3):225-30. Epub 2005 Apr 25.

Reta Lila Weston Institute of Neurological Studies, Royal Free and UCL Medical School, The Windeyer Building, 46, Cleveland Street, London W1T 4JF, UK.

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http://dx.doi.org/10.1016/j.neulet.2005.04.024DOI Listing
August 2005

The structure of the tau haplotype in controls and in progressive supranuclear palsy.

Hum Mol Genet 2004 Jun 28;13(12):1267-74. Epub 2004 Apr 28.

Reta Lila Weston Institute of Neurological Studies, University College London, UK.

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http://dx.doi.org/10.1093/hmg/ddh138DOI Listing
June 2004