Publications by authors named "Christopher M Gomez"

92Publications

De Novo Variants in EEF2 Cause a Neurodevelopmental Disorder with Benign External Hydrocephalus.

Hum Mol Genet 2020 Dec 23. Epub 2020 Dec 23.

Department of Human Genetics, Radboud university medical center and Donders Institute for Brain, Cognition and Behavior, 6525 GA Nijmegen, The Netherlands.

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December 2020

Prevalence of -mediated spinocerebellar ataxia in a North American ataxia cohort.

Neurol Genet 2020 Jun 20;6(3):e440. Epub 2020 May 20.

Department of Neurology (D.A.S., D.W., Y.M., S.P., B.L.F.), Program in Neurogenetics, David Geffen School of Medicine, University of California, Los Angeles; Department of Neurology (D.W., B.L.F.), Clinical Neurogenomics Research Center, David Geffen School of Medicine, University of California, Los Angeles; Department of Human Genetics (S.A., M.S., S.D.), University of Chicago, IL; Department of Neurology (C.M.D.G., V.K.), Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (G.G., C.M.G.), University of Chicago, IL; Bruce Lefroy Centre (P.J.L.), Murdoch Children's Research Institute; Department of Paediatrics (P.J.L.), University of Melbourne, Parkville, Australia; Sackler Faculty of Medicine (S.H.-B.), Tel-Aviv University, Tel-Aviv, Israel; and Department of Human Genetics (B.L.F.), David Geffen School of Medicine, University of California, Los Angeles.

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June 2020

Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6.

J Neurol Sci 2020 Aug 4;415:116878. Epub 2020 May 4.

Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Initiative for Columbia Ataxia and Tremor, Columbia University, New York, NY, USA. Electronic address:

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August 2020

Heterozygous missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.

Neurol Genet 2020 Apr 10;6(2):1-13. Epub 2020 Feb 10.

Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle.

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April 2020

Psychometric properties of the Friedreich Ataxia Rating Scale.

Neurol Genet 2019 Dec 29;5(6):371. Epub 2019 Oct 29.

Clinical Data Science GmbH (C.R.), Basel, Switzerland; Bruce Lefroy Centre for Genetic Health Research (L.A.C., M.B.D.), Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics (L.A.C., M.B.D.), University of Melbourne, Parkville, Victoria, Australia; Department of Neurology (S.H.S.), McKnight Brain Institute, Room, Gainesville, FL; University of Minnesota (K.B.); University of Chicago (C.M.G.); Ohio State University (J.C.H.); Divisions of Neurology and Clinical and Metabolic Genetics (G.Y.), Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada Hospital; University of Rochester (B.R.); University of Iowa (K.D.M.); Emory University (G.W.); University of South Florida (T.Z.); Friedreich's Ataxia Research Alliance (S.P.), Downingtown, PA; and Division of Neurology (D.R.L.), Children's Hospital of Philadelphia.

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December 2019

Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort.

J Neurol Sci 2020 Mar 24;410:116642. Epub 2019 Dec 24.

Division of Neurology, Children's Hospital of Philadelphia, 502 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104-4318, United States of America. Electronic address:

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March 2020

A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an mutation.

Neurol Genet 2019 Oct 23;5(5):e357. Epub 2019 Sep 23.

National Human Genome Research Institute (C.X.), Bethesda, MD; Department of Neurology (C.M.G.), University of Chicago Hospitals, IL; Department of Ophthalmology and Visual Sciences (E.M.B., E.M.S.), University of Iowa; Department Neurology (J.R., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; Department of Genetics (A.K.-J., S.D.), University of Chicago, IL; and Department of Neurology (P.K.), UTSW Medical Center, Dallas, TX.

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October 2019

The cerebellum in health and disease.

Neurosci Lett 2019 01 18;688. Epub 2018 Jul 18.

Department of Neurology, The University of Chicago. Electronic address:

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January 2019

Neurochemical abnormalities in premanifest and early spinocerebellar ataxias.

Ann Neurol 2018 04 10;83(4):816-829. Epub 2018 Apr 10.

Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN.

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April 2018