Alan Pittman

Alan Pittman

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Alan Pittman

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Prevalence of variants detected by whole-exome sequencing in hypertrophic cardiomyopathy.

Amyloid 2019 Dec 25;26(4):243-247. Epub 2019 Sep 25.

St. Bartholomew's Centre for Inherited Cardiovascular Disease, St Bartholomew's Hospital , London , UK.

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http://dx.doi.org/10.1080/13506129.2019.1665996DOI Listing
December 2019

ALLELE-SPECIFIC SIRNA CORRECTS ABERRANT CELLULAR PHENOTYPE IN KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME KERATINOCYTES.

J Invest Dermatol 2019 Nov 6. Epub 2019 Nov 6.

Infection, Immunity and Inflammation Programme/Immunobiology Section, UCL Great Ormond Street Institute of Child Health, 30 Guilford St., London WC1N 1EH, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.09.022DOI Listing
November 2019

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

loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Ann Clin Transl Neurol 2018 02 22;5(2):216-221. Epub 2018 Jan 22.

Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom.

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http://dx.doi.org/10.1002/acn3.522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817843PMC
February 2018

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

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:
Wouter van Rheenen Aleksey Shatunov Annelot M Dekker Russell L McLaughlin Frank P Diekstra Sara L Pulit Rick A A van der Spek Urmo Võsa Simone de Jong Matthew R Robinson Jian Yang Isabella Fogh Perry Tc van Doormaal Gijs H P Tazelaar Max Koppers Anna M Blokhuis William Sproviero Ashley R Jones Kevin P Kenna Kristel R van Eijk Oliver Harschnitz Raymond D Schellevis William J Brands Jelena Medic Androniki Menelaou Alice Vajda Nicola Ticozzi Kuang Lin Boris Rogelj Katarina Vrabec Metka Ravnik-Glavač Blaž Koritnik Janez Zidar Lea Leonardis Leja Dolenc Grošelj Stéphanie Millecamps François Salachas Vincent Meininger Mamede de Carvalho Susana Pinto Jesus S Mora Ricardo Rojas-García Meraida Polak Siddharthan Chandran Shuna Colville Robert Swingler Karen E Morrison Pamela J Shaw John Hardy Richard W Orrell Alan Pittman Katie Sidle Pietro Fratta Andrea Malaspina Simon Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna M Van Deerlin John Q Trojanowski Lauren Elman Leo McCluskey A Nazli Basak Ceren Tunca Hamid Hamzeiy Yesim Parman Thomas Meitinger Peter Lichtner Milena Radivojkov-Blagojevic Christian R Andres Cindy Maurel Gilbert Bensimon Bernhard Landwehrmeyer Alexis Brice Christine A M Payan Safaa Saker-Delye Alexandra Dürr Nicholas W Wood Lukas Tittmann Wolfgang Lieb Andre Franke Marcella Rietschel Sven Cichon Markus M Nöthen Philippe Amouyel Christophe Tzourio Jean-François Dartigues Andre G Uitterlinden Fernando Rivadeneira Karol Estrada Albert Hofman Charles Curtis Hylke M Blauw Anneke J van der Kooi Marianne de Visser An Goris Markus Weber Christopher E Shaw Bradley N Smith Orietta Pansarasa Cristina Cereda Roberto Del Bo Giacomo P Comi Sandra D'Alfonso Cinzia Bertolin Gianni Sorarù Letizia Mazzini Viviana Pensato Cinzia Gellera Cinzia Tiloca Antonia Ratti Andrea Calvo Cristina Moglia Maura Brunetti Simona Arcuti Rosa Capozzo Chiara Zecca Christian Lunetta Silvana Penco Nilo Riva Alessandro Padovani Massimiliano Filosto Bernard Muller Robbert Jan Stuit Ian Blair Katharine Zhang Emily P McCann Jennifer A Fifita Garth A Nicholson Dominic B Rowe Roger Pamphlett Matthew C Kiernan Julian Grosskreutz Otto W Witte Thomas Ringer Tino Prell Beatrice Stubendorff Ingo Kurth Christian A Hübner P Nigel Leigh Federico Casale Adriano Chio Ettore Beghi Elisabetta Pupillo Rosanna Tortelli Giancarlo Logroscino John Powell Albert C Ludolph Jochen H Weishaupt Wim Robberecht Philip Van Damme Lude Franke Tune H Pers Robert H Brown Jonathan D Glass John E Landers Orla Hardiman Peter M Andersen Philippe Corcia Patrick Vourc'h Vincenzo Silani Naomi R Wray Peter M Visscher Paul I W de Bakker Michael A van Es R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Brain 2016 07 23;139(Pt 7):1904-18. Epub 2016 May 23.

1 Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK 2 Alzheimer's Disease Research Centre, Department of Neurology, Harvard Medical School and Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA

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http://dx.doi.org/10.1093/brain/aww111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939695PMC
July 2016

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.

Brain 2016 Feb 11;139(Pt 2):e9. Epub 2015 Sep 11.

1 Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK 4 Sobell Department of Motor Neuroscience and Movement Disorders, Queen Square, London, WC1N 3BG, UK

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http://dx.doi.org/10.1093/brain/awv223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963427PMC
February 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

Structural study of the microtubule-associated protein tau locus of Alzheimer's disease in Taiwan.

Biomed J 2014 May-Jun;37(3):127-32

Department of Neurology, Chang Gung Memorial Hospital at Linkou, Chang Gung University College of Medicine, Taoyuan, Taiwan.

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http://dx.doi.org/10.4103/2319-4170.117891DOI Listing
May 2015

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

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

Neurobiol Aging 2015 Mar 20;36(3):1600.e5-8. Epub 2014 Dec 20.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.017DOI Listing
March 2015

Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.

Neurobiol Aging 2015 Feb 27;36(2):1221.e1-6. Epub 2014 Aug 27.

Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Neurogenetics Laboratory, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; The MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321829PMC
February 2015

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Neurology 2014 Aug 9;83(7):612-9. Epub 2014 Jul 9.

From the MRC Centre for Neuromuscular Diseases (Y.-T.L., M.L., A.H., M.M.R., H.H.) and Departments of Molecular Neuroscience (Y.-T.L., J.H., A.H., A.P., D.H., M.M.R., H.H.) and Clinical Neuroscience (C.P.), UCL Institute of Neurology; National Hospital for Neurology and Neurosurgery and UCLH (M.L., J.H., A.H., K.G.S., M.M.R., H.H.), London, UK; Section of Epilepsy (Y.-T.L.), Department of Neurology, Neurological Institute, Taipei Veterans General Hospital; National Yang-Ming University School of Medicine (Y.-T.L.), Taipei, Taiwan; Division of Neuropathology (Z.J., S.B.) and Neurogenetics Unit (J.M.P, M.G.S.), National Hospital for Neurology and Neurosurgery; Department of Neurology (J.C.J.), Chelsea and Westminster Hospital, London, UK; Department of Orthopaedics (M.A.-G.), Medical University Vienna, Austria; and Dr. John T. MacDonald Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), Miller School of Medicine, University of Miami, FL.

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http://www.neurology.org/content/83/7/612.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000069
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000000691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141994PMC
August 2014

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Neurology 2014 Jun 14;82(23):2072-6. Epub 2014 May 14.

From the IRCCS National Institute of Neurology C. Mondino Foundation (A.C., G.P., C.A.G., E.M., C.C., G. Grieco, I.R., A.M.), Pavia, Italy; Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases (A.T., A.P., J.H.), and Department of Neurodegenerative Disease (P.F.), UCL Institute of Neurology, London, UK; Neuromuscular Unit (P.C., L.N., V.L., M.R., R.V., G.F., M.M.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Dino Ferrari Centre, Università di Milano, Italy; Neurology Unit (G. Grampa), Saronno Hospital, Italy; MRC Laboratory for Molecular Cell Biology (S.E.M.), Department of Genetics, Evolution and Environment, and UCL Institute of Child Health, University College London, UK; and Department of Neurological Sciences (A.M.), University of Pavia, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118497PMC
June 2014

Genetic analysis in neurology: the next 10 years.

JAMA Neurol 2013 Jun;70(6):696-702

Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, England.

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http://dx.doi.org/10.1001/jamaneurol.2013.2068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4196640PMC
June 2013

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

Ann Neurol 2013 Apr 19;73(4):546-53. Epub 2013 Feb 19.

Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.23832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698699PMC
April 2013

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

Genetics of progressive supranuclear palsy.

Handb Clin Neurol 2008 ;89:475-85

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S007297520701244
Publisher Site
http://dx.doi.org/10.1016/S0072-9752(07)01244-4DOI Listing
December 2010

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

MAPT S305I mutation: implications for argyrophilic grain disease.

Acta Neuropathol 2008 Jul 8;116(1):103-18. Epub 2007 Dec 8.

Institute of Neurology, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1007/s00401-007-0322-6DOI Listing
July 2008

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

Tangle diseases and the tau haplotypes.

Alzheimer Dis Assoc Disord 2006 Jan-Mar;20(1):60-2

Laboratory of Neurogenetics, National Institutes on Aging and of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD 20852, USA.

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http://dx.doi.org/10.1097/01.wad.0000201853.54493.d8DOI Listing
July 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 architecture of the tau haplotype block in different ethnicities.

Neurosci Lett 2005 Mar 22;377(2):81-4. Epub 2004 Dec 22.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Building 35, Room 1A1008, MSC 3707, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neulet.2004.11.072DOI Listing
March 2005

The tau H2 haplotype is almost exclusively Caucasian in origin.

Neurosci Lett 2004 Oct;369(3):183-5

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neulet.2004.05.119DOI Listing
October 2004

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