139 Publications
Brain 2020 12;143(12):3589-3602
MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Neurology 2020 12 3;95(24):e3163-e3179. Epub 2020 Nov 3.
From the Friedrich-Baur-Institute (J.S., B.S.-W., M.W.), Department of Neurology, LMU Munich, Germany; DNA Laboratory (P.L., P.S.), Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Czech Republic; Neuromuscular Unit (D.K., A.K.), Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland; Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., A.R., S.Z.), John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; Neurogenetics Group (J.B., T.D., P.D.J.), Center for Molecular Neurology, University of Antwerp; Institute Born-Bunge (J.B., T.D., P.D.J.), University of Antwerp; Neuromuscular Reference Centre (J.B., P.D.J.), Department of Neurology, Antwerp University Hospital, Belgium; Department of Clinical Chemistry and Laboratory Medicine (C.B.), Jena University Hospital; Centogene AG (C.B.), Rostock, Germany; Department of Medical Genetics (G.J.B., H.H.), Telemark Hospital Trust, Skien, Norway; Neurology Department (D.B., A.L., J. Weishaupt), Ulm University, Germany; Department of Neurology (J.D., D. Walk), University of Minnesota, Minneapolis; Department of Neurology (L.D.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Department of Sleep Medicine and Neuromuscular Diseases (B.D., A.S., P.Y.), University of Münster; Institute of Human Genetics (K.E., I.K.), Medical Faculty, RWTH Aachen University, Germany; Sydney Medical School (M.E., M.K., G.N.), Concord Hospital, Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, Australia; Department of Orthopaedics and Trauma Surgery (C.F., K.K., D. Weinmann, R.W., S.T., M.A.-G.), Medical University of Vienna, Austria; AP-HP (T.S.), Institut de Myologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié-Salpêtrière, Paris, France; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK; Department of Neurology (S.I.), Konventhospital der Barmherzigen Brüder Linz; Karl Chiari Lab for Orthopaedic Biology (K.K., D. Weinmann, S.T.), Department of Orthopedics and Trauma Surgery, Medical University of Vienna, Austria; Stanford Center for Undiagnosed Diseases (J.N.K.), Stanford, CA; Undiagnosed Diseases Network (UDN) (J.N.K., S.Z.); Centre for Medical Research (N.G.L., R.O., G.Ravenscroft), University of Western Australia, Nedlands; Harry Perkins Institute of Medical Research (N.G.L., R.O., G. Ravenscroft), Nedlands; Neurogenetic Unit (P.J.L.), Royal Perth Hospital, Perth, Australia; Department of Neurology (W.N.L., J. Wanschitz), Medical University of Innsbruck, Austria; Department of Neurosciences and Behavior (W.M.), Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Department of Neurology (S.P.), Hannover Medical School, Germany; Department of Clinical and Experimental Medicine (G. Ricci), University of Pisa, Italy; Institute of Human Genetics (S.R.-S.), Medical University of Innsbruck, Austria; Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., R.S., M.S.), University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S., R.S., M.S.), Tübingen, Germany; AP-HP (B.F.), Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, Hôpital de Bicêtre; Le Kremlin-Bicêtre, France; Institute of Human Genetics (T.M.S.), Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg; Institute for Human Genetics (T.M.S.), Technical University Munich; and Institut für Klinische Genetik (J. Wagner), Technische Universität Dresden, Medizinische Fakultät Carl Gustav Carus, Germany.
Neurology 2020 12 14;95(22):1005-1014. Epub 2020 Oct 14.
From the Beth Israel Deaconess Medical Center (R.F., C.G.), Harvard Medical School, MA; University of Rochester Medical Center (J.S.G., R.H.D., D.N.H.), Rochester, NY; Department of Neurology (C.G.F.), School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, the Netherlands; Department of Anesthesiology (S.H.), Washington University in St. Louis School of Medicine, St. Louis, MO; Neuroalgology Unit (G.L.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy; Department of Biomedical and Clinical Sciences "Luigi Sacco" (G.L.), University of Milan,Milan, Italy; Phoenix Neurological Associates (T.L.), Phoenix, AZ; Weill Cornell Medicine-Qatar (R.A.M.), Qatar Foundation, Education City, Doha, Qatar; University of Utah (J.R.S.), Salt Lake City, UT; Virginia Commonwealth University (A.G.S.), Richmond, VA; Biogen (J.B.), Cambridge, MA; University of Michigan (E.F.), Ann Arbor, MI; Johns Hopkins School of Medicine (A.H., M.P.), Baltimore, MD; University of Vermont (N.K.), Burlington, VT; Chromocell Corp (H.M.), North Brunswick, NJ; Harvard Medical School (A.L.O.), Boston, MA; Departments of Neurology and Medicine (A.P.), and Vanderbilt Heart and Vascular Institute, Nashville, TN; NuFactor Specialty Pharmacy (E.R.), Temecula, CA; University of Maryland (J.W.R.), Baltimore, MD; Aptinyx (S.S.), INC., Evanston. IL; Amgen (D.S.), Cambridge, MA; University of Haifa (R.T.), Haifa, Israel; and University of Würzburg (N.Ü.), Würzburg, Germany.
Neurology 2020 11 14;95(19):851-852. Epub 2020 Oct 14.
From the Department of Neurology, University of Rochester, NY.
J Peripher Nerv Syst 2020 09 26;25(3):288-291. Epub 2020 Aug 26.
Department of Neurology, University of Rochester, Rochester, New York, USA.
Ann Clin Transl Neurol 2020 09 6;7(9):1713-1715. Epub 2020 Aug 6.
School of Health Sciences, University of Sydney, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
J Peripher Nerv Syst 2020 09 24;25(3):292-296. Epub 2020 Jun 24.
Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Foot Ankle Int 2020 07 1;41(7):870-880. Epub 2020 Jun 1.
Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Nat Genet 2020 06;52(6):640
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Nat Genet 2020 05 4;52(5):473-481. Epub 2020 May 4.
Genes (Basel) 2020 02 29;11(3). Epub 2020 Feb 29.
Department of BioSciences, Rice University, Houston, TX 77005, USA.
Neurology 2020 03 11;94(9):e884-e896. Epub 2020 Feb 11.
From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P.,* D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.*), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PA.
Neurology 2020 03 10;94(9):405-409. Epub 2020 Feb 10.
From the Department of Neurology (Y.H.) and Department of Pediatric Neurology, Arkansas Children's Hospital (A.V.), University of Arkansas for Medical Sciences, Little Rock; Department of Human Genetics and Hussman Institute for Human Genomics (S.L.Z.), University of Miami, FL; and Department of Neurology (D.N.H.), University of Rochester Medical Center, NY.
Muscle Nerve 2020 04 18;61(4):475-479. Epub 2020 Feb 18.
Department of Neurology, University of Rochester Medical Center, New York.
J Neurol Sci 2020 Feb 20;409:116583. Epub 2019 Nov 20.
Department of Neurology, University of Rochester Medical Center, 601 Elmwood Ave, Rochester, NY 14642, USA. Electronic address:
Cancer Lett 2020 03 16;472:8-18. Epub 2019 Dec 16.
Department of Surgery, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia. Electronic address:
Nat Rev Cancer 2020 02 28;20(2):107-124. Epub 2019 Nov 28.
INSERM UMR_S1109, Tumor Biomechanics, Strasbourg, France.
J Neurol Sci 2020 01 11;408:116560. Epub 2019 Nov 11.
Department of Neurology, University of Rochester Medical Center, 601 Elmwood Ave, Rochester, NY 14642, USA.
Trends Cancer 2019 11 21;5(11):724-741. Epub 2019 Oct 21.
The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, New South Wales 2010, Australia; St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales 2010, Australia. Electronic address:
Ann Clin Transl Neurol 2019 09 15;6(9):1718-1727. Epub 2019 Aug 15.
Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York.
Nat Commun 2019 08 12;10(1):3637. Epub 2019 Aug 12.
The Garvan Institute of Medical Research & The Kinghorn Cancer Centre, Sydney, NSW, 2010, Australia.
Neurology 2019 08 18;93(8):346-360. Epub 2019 Jul 18.
From the University of Rochester (J.S.G., J.L., J.C., N.W., D.N.H., S.M.S., R.H.D.), NY; Harvard Medical School (C.H.G., M.C., R.F.), Boston, MA; LORA Group, LLC (L.B.), Royal Oak, MD; University of Milano-Bicocca (G.C.), Monza, Italy; Johns Hopkins University (J.C.M.); University of Maryland and Veterans Administration Maryland Health Care System (J.W.R.), Baltimore, MD; Virginia Commonwealth University (A.G.S.), Richmond; and University of Washington (D.C.T.), Seattle.
Ann Neurol 2019 07 27;86(1):55-67. Epub 2019 May 27.
Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.
Muscle Nerve 2019 09 15;60(3):242-249. Epub 2019 May 15.
Children's Hospital of Philadelphia, Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
J Neuromuscul Dis 2019 ;6(2):201-211
Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.
Ann Neurol 2019 03;85(3):316-330
Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
Brain 2019 04;142(4):e14
J Neurol Sci 2019 02 4;397:150-154. Epub 2018 Dec 4.
J Endocr Soc 2019 Jan 26;3(1):1-12. Epub 2018 Oct 26.
Endocrine Center and Clinics, Froedtert Hospital and the Medical College of Wisconsin, Menomonee Falls, Wisconsin.
Nat Commun 2018 11 30;9(1):5083. Epub 2018 Nov 30.
Australian Pancreatic Cancer Genome Initiative (APGI), Sydney, Darlinghurst 2010, NSW, Australia.