Kevin B Boylan

Kevin B Boylan

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Kevin B Boylan

Kevin B Boylan

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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

Abnormal expression of homeobox genes and transthyretin in expansion carriers.

Neurol Genet 2017 Aug 7;3(4):e161. Epub 2017 Jun 7.

Department of Neuroscience (N.A.F., M.C.B., T.F.G., K.F.B., M.D.-H., P.H.B., J.C., K.R.J.-W., L.M.D., A.M.N., M.E.M., L.P., D.W.D., R.R., M.v.B.), Department of Health Sciences Research (X.W., Y.W.A.), Department of Neurology (N.R.G.-R., K.B.B.), Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., M.B.), University of Miami, FL; Department of Neurology (K.A.J., J.E.P., D.S.K., R.C.P., B.F.B.), Mayo Clinic, Rochester, MN; and Divisions of Neurology and Neurobiology (R.B.), Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, AZ.

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http://dx.doi.org/10.1212/NXG.0000000000000161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479438PMC
August 2017

Poly(GP) proteins are a useful pharmacodynamic marker for -associated amyotrophic lateral sclerosis.

Sci Transl Med 2017 03;9(383)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.

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http://dx.doi.org/10.1126/scitranslmed.aai7866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5576451PMC
March 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Nat Genet 2016 09 25;48(9):1037-42. Epub 2016 Jul 25.

Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560030PMC
September 2016

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.

Exp Neurol 2016 Mar 31;277:171-177. Epub 2015 Dec 31.

Center for Therapeutic Innovation, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Psychiatry & Behavioral Sciences, University of Miami Miller School of Medicine, Miami, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2015.12.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4761318PMC
March 2016

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

Neurology 2013 Oct 11;81(15):1332-41. Epub 2013 Sep 11.

From the Departments of Neuroscience (M.v.B., M.C.B., M.D.-H., M.E.M., N.J.R., P.E.B., T.R., B.M., P.E.A.A., K.F.B., L.P., D.W.D., R.R.) and Neurology (Z.K.W., K.B.B., N.R.G.-R.), Mayo Clinic, Jacksonville, FL; Proteomics Unit and NeuroBioGen Lab-Memory Clinic (R.G., L.B., G.B.), IRCCS Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy; Department of Clinical Neurological Sciences (E.F., M.J.S.), Schulich School of Medicine and Dentistry, The University of Western Ontario, London, Canada; Division of Neurology (G.-Y.R.H.), and Department of Pathology and Laboratory Medicine (I.R.M.), University of British Columbia, Vancouver, Canada; Department of Neurology (B.J.K., D.S.K., R.C.P., B.F.B.), Mayo Clinic, Rochester, MN; Department of Pathology and Alzheimer's Disease Center (K.J.H., C.L.W.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (A.K., B.L.M.), University of California, San Francisco; Center for Neurodegenerative Disease Research (E.M.W., V.M.V.D.), Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia; Department of Neurology (G.C., D.H.G.), The David Geffen School of Medicine at University of California, Los Angeles; Cognitive Neurology & Alzheimer Disease Center (E.H.B., M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; Department of Neurology (C.L.), Drexel University College of Medicine, Philadelphia, PA; Molecular Brain Research Group (M.J.S.), Robarts Research Institute, London, Canada; Banner Sun Health Research Institute (T.G.B.), Sun City, AZ; Cognitive Neuroscience Section (E.D.H.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Departments of Psychiatry and Neurology (E.D.H.), Columbia University, New York; and Department of Neurology (T.B.), University of Washington School of Medicine, Seattle.

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http://dx.doi.org/10.1212/WNL.0b013e3182a8250cDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806926PMC
October 2013

TARDBP mutations in Parkinson's disease.

Parkinsonism Relat Disord 2013 Mar 8;19(3):312-5. Epub 2012 Dec 8.

Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA.

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http://dx.doi.org/10.1016/j.parkreldis.2012.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3582838PMC
March 2013

Total laryngectomy in patients with advanced bulbar symptoms of amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2009 Oct-Dec;10(5-6):470-5

Department of Otorhinolaryngology-Head & Neck Surgery, Mayo Clinic Florida, 4500 San Pablo Road, Jacksonville, FL 32224, USA.

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http://www.tandfonline.com/doi/full/10.3109/1748296080257837
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http://dx.doi.org/10.3109/17482960802578373DOI Listing
February 2010

Defining normal duration for afterdischarges with repetitive nerve stimulation: a pilot study.

J Clin Neurophysiol 2009 Feb;26(1):45-9

Department of Neurology, Mayo Clinic Jacksonville, Jacksonville, Florida 32224, USA.

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http://dx.doi.org/10.1097/WNP.0b013e3181968f00DOI Listing
February 2009

Aprataxin (APTX) gene mutations resembling multiple system atrophy.

Parkinsonism Relat Disord 2007 Apr 27;13(3):139-42. Epub 2006 Oct 27.

Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S135380200600219
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http://dx.doi.org/10.1016/j.parkreldis.2006.08.010DOI Listing
April 2007

Utility of subcutaneous fat aspiration for diagnosing amyloidosis in patients with isolated peripheral neuropathy.

Mayo Clin Proc 2002 Dec;77(12):1287-90

Mayo Medical School, Mayo Clinic, Rochester, Minn 55905, USA.

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http://dx.doi.org/10.4065/77.12.1287DOI Listing
December 2002