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Publications Authored by Diane McKenna-Yasek | PubFacts
Diane McKenna-Yasek

Diane McKenna-Yasek

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Prospective natural history study of ALS clinical characteristics and biomarkers.

Neurology 2019 Oct 2;93(17):e1605-e1617. Epub 2019 Oct 2.

From the Department of Neurology (A.J.C., T.H., C.D., J.J.-B., A.M., S.B., A.S., T.J.E., C.C., T.M.M.), Washington University School of Medicine, St. Louis, MO; Department of Neurology (N.A., H.Y., A.V.S., M.C.), Neurological Clinical Research Institute, Massachusetts General Hospital, Boston; Department of Neurology (L.H.v.d.B., M.A.v.E., J.H.V., B.S.d.V.), Brain Center Rudolf Magnus, University Medical Center Utrecht, University Utrecht, the Netherlands; Department of Neurology (M.H.), Columbia University, New York, NY; Department of Neurology (R.H. Baloh), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (R.H. Brown, N.W., D.M.-Y., M.A.O., C.D.), University of Massachusetts, Worcester; Department of Neurology (J.D.R.), Johns Hopkins University, Baltimore, MD; and Biogen Inc. (A.M., T.F.), Boston, MA.

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http://dx.doi.org/10.1212/WNL.0000000000008359DOI Listing
October 2019

Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.

Neurology 2019 01 9;92(4):e359-e370. Epub 2019 Jan 9.

From the Department of Neurology (V.F., W.D., K.W., R.A.-B., A.L.O., F.E.), Biostatistics Center, Department of Medicine (E.A.M.), and Department of Pathology (Neuropathology) (A.L.O.), Massachusetts General Hospital, Harvard Medical School, Boston; Clinical Chemistry (S.S., T.H.), University Hospital Zurich, Switzerland; and University of Massachusetts Medical School (P.N., D.M.-Y., R.B.), Worcester.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006811DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345118PMC
January 2019

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

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

Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.

Clin Epigenetics 2014 29;6(1):23. Epub 2014 Oct 29.

The Wellstone Program & The Department of Cell and Developmental Biology, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA 01655 USA ; The Department of Neurology, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA 01655 USA ; The Eunice Kennedy Shriver National Institute of Child Health and Human Development Sen. Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA 01655 USA.

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http://dx.doi.org/10.1186/1868-7083-6-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4232706PMC
November 2014

A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.

Ann Clin Transl Neurol 2014 Sep 27;1(9):703-20. Epub 2014 Sep 27.

Neurology Department, University of Massachusetts Medical School Worcester, Massachusetts, 01605.

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http://dx.doi.org/10.1002/acn3.96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241797PMC
September 2014

Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis.

Proc Natl Acad Sci U S A 2014 Mar 10;111(12):E1121-9. Epub 2014 Mar 10.

Departments of Biochemistry and Molecular Pharmacology, Neurology, Pathology, and Cell Biology, RNA Therapeutic Institute, Howard Hughes Medical Institute, and Neuroscience Program, University of Massachusetts Medical School, Worcester, MA 01605.

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http://dx.doi.org/10.1073/pnas.1322641111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970502PMC
March 2014

Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.

Neurobiol Dis 2012 Dec 3;48(3):391-8. Epub 2012 Jul 3.

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.

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http://dx.doi.org/10.1016/j.nbd.2012.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245016PMC
December 2012

Mutational analysis of TARDBP in neurodegenerative diseases.

Neurobiol Aging 2011 Nov 23;32(11):2096-9. Epub 2009 Dec 23.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2009.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2889148PMC
November 2011

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.

Hum Mol Genet 2010 Nov 10;19(21):4160-75. Epub 2010 Aug 10.

Department of Neurology, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA 01655, USA.

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http://dx.doi.org/10.1093/hmg/ddq335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2981014PMC
November 2010

Birth order and the genetics of amyotrophic lateral sclerosis.

J Neurol 2008 Jan 19;255(1):99-102. Epub 2007 Dec 19.

MRC Centre for Neurodegeneration, Research, P043, King's College London, Dept. of Neurology, Institute of Psychiatry, London, SE5 8AF, UK,

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http://dx.doi.org/10.1007/s00415-007-0709-2DOI Listing
January 2008

Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes.

Neurosci Lett 2006 Jan 19;392(1-2):52-7. Epub 2005 Sep 19.

Day Neuromuscular Research Laboratory, Massachusetts General Hospital, 114 16th Street, Navy Yard, Charlestown, 02129, USA.

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http://dx.doi.org/10.1016/j.neulet.2005.08.058DOI Listing
January 2006

Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis.

Neurogenetics 2004 Dec 2;5(4):209-13. Epub 2004 Oct 2.

Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://link.springer.com/10.1007/s10048-004-0193-0
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December 2004

A novel mutation in the spastin gene in a family with spastic paraplegia.

Neurosci Lett 2002 May;325(1):57-61

Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Room 3125, Building 114, 16th Street, Charlestown, MA 02129, USA.

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http://dx.doi.org/10.1016/s0304-3940(02)00239-2DOI Listing
May 2002

A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy.

Ann Neurol 2002 01;51(1):129-33

Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts 2129, USA.

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January 2002