Pietro Fratta

Pietro Fratta

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Pietro Fratta

Publications by authors named "Pietro Fratta"

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Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity.

Neurology 2019 Aug 7;93(9):e895-e907. Epub 2019 Aug 7.

From the Neuroradiological Academic Unit (C.D.J.S., S.J.W., A.E., S.S., T.A.Y., J.S.T.), and MRC Centre for Neuromuscular Diseases (U.K., L.Z., K.T., R.S.H., N.S., K.S., M.G.H., L.G., J.M.M., P.F.), UCL Queen Square Institute of Neurology, University College London; Blizard Institute (A.M.), Queen Mary University of London, UK; and Department of Radiology (U.K.), University Hospital Tulln, Karl Landsteiner University of Health Sciences, Tulln, Austria.

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http://dx.doi.org/10.1212/WNL.0000000000008009DOI Listing
August 2019

Cytoplasmic functions of TDP-43 and FUS and their role in ALS.

Semin Cell Dev Biol 2019 Jun 4. Epub 2019 Jun 4.

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK; MRC Centre for Neuromuscular Disease, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.semcdb.2019.05.023DOI Listing
June 2019

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy.

Neurology 2019 Mar 20;92(11):e1205-e1211. Epub 2019 Feb 20.

From the Institute of Neurology (V.L., O.J.Z., L.Z., C.H., M.F., C.-H.L., B.M., H.Z., A.H., L.G., M.H., P.F.), University College London Institute of Neurology, Queen Square, London; Blizard Institute (V.L., A.M.), Queen Mary, University of London, UK; Department of Neurosciences (G.Q., I.M., C.B., G.S.), University of Padova, Italy; Department of Neurology (C.-H.L.), China Medical University Hospital, Taiwan; Basildon Hospital (K.A.), UK; Department of Physiology, Anatomy and Genetics (C.R.), University of Oxford; UK Dementia Research Institute at UCL (H.Z., A.H.), London, UK; Clinical Neurochemistry Laboratory (H.Z.), Sahlgrenska University Hospital; and the Department of Psychiatry and Neurochemistry (H.Z.), Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.

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http://dx.doi.org/10.1212/WNL.0000000000007097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511101PMC
March 2019

Evaluation of methodologies for microRNA biomarker detection by next generation sequencing.

RNA Biol 2018 18;15(8):1133-1145. Epub 2018 Sep 18.

a Sobell Department of Neuromuscular Diseases , UCL Institute of Neurology , London , UK.

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http://dx.doi.org/10.1080/15476286.2018.1514236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161688PMC
November 2018

Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.

J Neurol Neurosurg Psychiatry 2018 Aug 20;89(8):808-812. Epub 2018 Jan 20.

Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1136/jnnp-2017-316961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204939PMC
August 2018

The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis.

Brain 2018 05;141(5):1236-1238

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square London, WC1N 3BG, UK.

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http://dx.doi.org/10.1093/brain/awy091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5917769PMC
May 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Quantitative analysis of cryptic splicing associated with TDP-43 depletion.

BMC Med Genomics 2017 05 26;10(1):38. Epub 2017 May 26.

University College London Genetics Institute, Gower Street, London, UK.

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http://dx.doi.org/10.1186/s12920-017-0274-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446763PMC
May 2017

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

Systemic inflammatory response and neuromuscular involvement in amyotrophic lateral sclerosis.

Neurol Neuroimmunol Neuroinflamm 2016 Aug 1;3(4):e244. Epub 2016 Jun 1.

Centre for Neuroscience & Trauma (C.L., F.O., J.K., A.M.) and Centre of Primary Care and Public Health (V.G.), Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London; Sobell Department of Motor Neuroscience and Movement Disorders (C.L., P.F., L.G.), MRC Centre for Neuromuscular Diseases (P.F., L.G.), MRC Unit for Lifelong Health and Ageing (N.S.), Department of Molecular Neuroscience (K.S.), and Department of Clinical Neuroscience (R.O.), UCL Institute of Neurology; Basildon and Thurrock University Hospitals (K.A., A.M.), NHS Foundation Trust, Basildon; William Harvey Hospital (F.O.), Kent; Proteome Sciences plc (E.L.), South Wing Laboratory, Institute of Psychiatry, UK; Neurology (J.K.), University Hospital Basel, Switzerland; Department of Immunobiology (T.T.), King's College London; National Hospital for Neurology and Neurosurgery (N.S., R.H., R.O.), London; Musgrove Park Hospital (M.F.), Taunton; and Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK.

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http://dx.doi.org/10.1212/NXI.0000000000000244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4897985PMC
August 2016

Post-transcriptional modifications caused by TDP-43 mutations in mouse and man.

Authors:
Pietro Fratta

Springerplus 2015 12;4(Suppl 1):L52. Epub 2015 Jun 12.

UCL - Institute of Neurology and National Hospital for Neurology and Neurosurgery, UK.

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http://dx.doi.org/10.1186/2193-1801-4-S1-L52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797232PMC
July 2016

Clinical Trials in Spinal and Bulbar Muscular Atrophy-Past, Present, and Future.

J Mol Neurosci 2016 Mar 14;58(3):379-87. Epub 2015 Nov 14.

Department of Clinical Neurosciences, Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, "C. Besta" Neurological Institute, Via Celoria 11, Milan, 20133, Italy.

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http://dx.doi.org/10.1007/s12031-015-0682-7DOI Listing
March 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

SOD1 Function and Its Implications for Amyotrophic Lateral Sclerosis Pathology: New and Renascent Themes.

Neuroscientist 2015 Oct 9;21(5):519-29. Epub 2014 Dec 9.

Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK

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http://dx.doi.org/10.1177/1073858414561795DOI Listing
October 2015

Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis.

Neurology 2015 Jun 1;84(22):2247-57. Epub 2015 May 1.

From the Centre for Neuroscience & Trauma (C.-H.L., G.G., J.K., A.M.), Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London; Sobell Department of Motor Neuroscience and Movement Disorders (C.-H.L., L.G.), Departments of Neuroinflammation (A.P.), Neurodegenerative Disease (P.F.), Molecular Neuroscience (K.S.), and Clinical Neuroscience (R.O.), and MRC Centre for Neuromuscular Diseases (R.O., L.G.), UCL Institute of Neurology, London; MRC Integrative Epidemiology Unit (C.M.-W.), University of Bristol; Nuffield Department of Clinical Neurosciences (E.G., K.T., M.R.T.), University of Oxford; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, London, UK; UmanDiagnostics (N.N.), Umeå, Sweden; Medicine Clinical Trial Unit (M.F.), Musgrove Park Hospital, Taunton, UK; National Hospital for Neurology and Neurosurgery (R.O., R.H., A.M.), London, UK; Neurology (J.K.), University Hospital Basel, Switzerland; North-East London and Essex MND Care and Research Centre (A.M.), London; and Basildon and Thurrock University Hospitals NHS Foundation Trust (A.M.), Basildon, UK.

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http://dx.doi.org/10.1212/WNL.0000000000001642DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4456658PMC
June 2015

G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome.

FEBS Lett 2015 Jun 13;589(14):1653-68. Epub 2015 May 13.

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.febslet.2015.05.003DOI Listing
June 2015

Plasma neurofilament heavy chain levels and disease progression in amyotrophic lateral sclerosis: insights from a longitudinal study.

J Neurol Neurosurg Psychiatry 2015 May 9;86(5):565-73. Epub 2014 Jul 9.

Centre for Neuroscience & Trauma, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK Basildon and Thurrock University Hospitals NHS Foundation Trust, Essex, UK North-East London and Essex MND Care and Research Centre, London, UK.

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http://dx.doi.org/10.1136/jnnp-2014-307672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4413806PMC
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

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.

Lancet Neurol 2015 Mar 29;14(3):291-301. Epub 2015 Jan 29.

Dementia Research Centre, University College London (UCL) Institute of Neurology, London, UK.

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http://dx.doi.org/10.1016/S1474-4422(14)70233-9DOI Listing
March 2015

Neuromuscular diseases: progress in gene discovery drives diagnostics and therapeutics.

Lancet Neurol 2015 Jan;14(1):13-4

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(14)70239-XDOI Listing
January 2015

A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects.

PLoS One 2014 21;9(1):e85962. Epub 2014 Jan 21.

MRC Mammalian Genetics Unit, Harwell, Oxfordshire, United Kingdom ; Department of Neurodegenerative Diseases and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085962PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897576PMC
October 2014

Recent advances in bulbar syndromes: genetic causes and disease mechanisms.

Curr Opin Neurol 2014 Oct;27(5):506-14

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, Institute of Neurology, London, WC1N 3BG, UK.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/WCO.0000000000000133DOI Listing
October 2014

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy.

Neurobiol Aging 2014 Jun 30;35(6):1491-8. Epub 2013 Dec 30.

MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, London, UK; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.12.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988933PMC
June 2014

Correlation of clinical and molecular features in spinal bulbar muscular atrophy.

Neurology 2014 Jun 9;82(23):2077-84. Epub 2014 May 9.

From the Department of Neurodegenerative Disease (P.F., L.M., T.C., E.M.C.F.), Sobell Department of Motor Neuroscience and Movement Disorders (N.N., L.G.), and MRC Centre for Neuromuscular Disease (P.F., N.N., I.S., A.C., E.M.C.F., L.G., M.G.H.), UCL Institute of Neurology, Queen Square, London; Neurogenetics Unit (S.P.), National Hospital for Neurology and Neurosurgery, Queen Square, London; and Centre for Neuroscience & Trauma (A.M.), Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000000507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075620PMC
June 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

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.

Neurobiol Aging 2014 Feb 13;35(2):443.e1-3. Epub 2013 Sep 13.

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK; MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898077PMC
February 2014

An unusual presentation for SOD1-ALS: isolated facial diplegia.

Muscle Nerve 2013 Dec;48(6):994-5

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, United Kingdom; MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1002/mus.23958DOI Listing
December 2013

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

Acta Neuropathol 2013 Dec 30;126(6):845-57. Epub 2013 Oct 30.

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00401-013-1200-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830745PMC
December 2013

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

Brain 2013 Aug 17;136(Pt 8):2342-58. Epub 2013 May 17.

Department of Neurodegenerative Disease, Institute of Neurology, University College, London WC1N 3BG, UK.

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http://brain.oxfordjournals.org/content/brain/136/8/2342.ful
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awt097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722346PMC
August 2013

Graphical modelling of molecular networks underlying sporadic inclusion body myositis.

Mol Biosyst 2013 Jul 17;9(7):1736-42. Epub 2013 Apr 17.

Centre for Bioinformatics and Systems Biology, Imperial College London, London, UK.

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http://dx.doi.org/10.1039/c3mb25497fDOI Listing
July 2013

FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion.

Neurobiol Aging 2013 May 9;34(5):1516.e17-9. Epub 2012 Oct 9.

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S01974580120046
Publisher Site
http://dx.doi.org/10.1016/j.neurobiolaging.2012.09.008DOI Listing
May 2013

Antisense makes sense for amyotrophic lateral sclerosis.

Authors:
Pietro Fratta

Lancet Neurol 2013 May 29;12(5):416-7. Epub 2013 Mar 29.

Department of Neurodegenerative Disease, University College London, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70059-0DOI Listing
May 2013

P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice.

Hum Mol Genet 2011 Jun 1;20(11):2081-90. Epub 2011 Mar 1.

Present address: Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1093/hmg/ddr081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3090187PMC
June 2011

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration.

Brain 2010 Jun 14;133(Pt 6):1763-71. Epub 2010 May 14.

Medical Research Council (MRC) Centre for Neurodegeneration Research, King's College London, Institute of Psychiatry, London, SE5 8AF, UK.

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http://dx.doi.org/10.1093/brain/awq111DOI Listing
June 2010