Zobrazeno 1 - 10
of 176
pro vyhledávání: '"SH Subramony"'
CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity
Autor:
Barbara A Perez, Hannah K Shorrock, Monica Banez‐Coronel, Tao Zu, Lisa EL Romano, Lauren A Laboissonniere, Tammy Reid, Yoshio Ikeda, Kaalak Reddy, Christopher M Gomez, Thomas Bird, Tetsuo Ashizawa, Lawrence J Schut, Alfredo Brusco, J Andrew Berglund, Lis F Hasholt, Jorgen E Nielsen, SH Subramony, Laura PW Ranum
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 11, Pp 1-15 (2021)
Abstract Spinocerebellar ataxia type 8 (SCA8), a dominantly inherited neurodegenerative disorder caused by a CTG•CAG expansion, is unusual because most individuals that carry the mutation do not develop ataxia. To understand the variable penetrance
Externí odkaz:
https://doaj.org/article/33aca9ac8dc84150a7d6116bee01440f
Autor:
Parminder J S, Vig, Maripar E, Lopez, Jinrong, Wei, David R, D'Souza, Sh, Subramony, Jeffrey, Henegar, Jonathan D, Fratkin
Publikováno v:
Journal of neurological sciences (Turkish). 23(3)
Spinocerebellar ataxia-1 (SCA1) is caused by the expansion of a polyglutamine repeat within the disease protein, ataxin-1. The overexpression of mutant ataxin-1 in SCA1 transgenic mice results in the formation of cytoplasmic vacuoles in Purkinje neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ef426ca6e158214a670dedbd51cf4ee3
https://pubmed.ncbi.nlm.nih.gov/18176630
https://pubmed.ncbi.nlm.nih.gov/18176630
Autor:
Rezende TJR; Department of Neurology, School of Medical Sciences, University of Campinas, Campinas, Brazil., Petit E; Sorbonne Université, Paris Brain Institute, Inserm, INRIA, CNRS, APHP, Paris, France., Park YW; Department of Radiology, Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, Minnesota, USA., Tezenas du Montcel S; Sorbonne Université, Paris Brain Institute, Inserm, INRIA, CNRS, APHP, Paris, France., Joers JM; Department of Radiology, Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, Minnesota, USA., DuBois JM; Biogen, Cambridge, Massachusetts, USA., Moore Arnold H; Biogen, Cambridge, Massachusetts, USA., Povazan M; Department of Radiology, Johns Hopkins University, School of Medicine, Baltimore, Maryland, USA., Banan G; Norman Fixel Center for Neurological Disorders, College of Medicine, University of Florida, Gainesville, Florida, USA., Valabregue R; Sorbonne Université, Paris Brain Institute, Inserm, INRIA, CNRS, APHP, Paris, France., Ehses P; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany., Faber J; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Department of Neurology, University Hospital Bonn, Bonn, Germany., Coupé P; Laboratoire Bordelais de Recherche en Informatique, Université de Bordeaux, Talence, France., Onyike CU; Department of Radiology, Johns Hopkins University, School of Medicine, Baltimore, Maryland, USA., Barker PB; Department of Radiology, Johns Hopkins University, School of Medicine, Baltimore, Maryland, USA., Schmahmann JD; Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Ataxia Center, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA., Ratai EM; A. A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Department of Radiology, Harvard Medical School, Boston, Massachusetts, USA., Subramony SH; Norman Fixel Center for Neurological Disorders, College of Medicine, University of Florida, Gainesville, Florida, USA., Mareci TH; Norman Fixel Center for Neurological Disorders, College of Medicine, University of Florida, Gainesville, Florida, USA., Bushara KO; Department of Radiology, Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, Minnesota, USA., Paulson H; Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA., Klockgether T; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Department of Neurology, University Hospital Bonn, Bonn, Germany., Durr A; Sorbonne Université, Paris Brain Institute, Inserm, INRIA, CNRS, APHP, Paris, France., Ashizawa T; Department of Neurology, The Houston Methodist Research Institute, Houston, Texas, USA., Lenglet C; Department of Radiology, Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, Minnesota, USA., Öz G; Department of Radiology, Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, Minnesota, USA.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Oct; Vol. 39 (10), pp. 1856-1867. Date of Electronic Publication: 2024 Jul 26.
Autor:
Morimoto M; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Ryu E; Center for Genomic Integrity, Institute for Basic Science, Ulsan, Republic of Korea; Department of Biological Sciences, Ulsan National Institute of Science and Technology, Ulsan, Republic of Korea., Steger BJ; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Dixit A; Nottingham University Hospital, Nottingham, UK., Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., Yoo J; Center for Genomic Integrity, Institute for Basic Science, Ulsan, Republic of Korea; Department of Biological Sciences, Ulsan National Institute of Science and Technology, Ulsan, Republic of Korea., van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hauser N; Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA., Steinbach PJ; Bioinformatics and Computational Biosciences Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Oura K; Division of Neurology and Gerontology, Department of Internal Medicine, School of Medicine Iwate Medical University, Morioka, Japan., Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ninomiya S; Department of Clinical Genetics, Kurashiki Central Hospital, Okayama, Japan., Rosenthal EA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Robinson HK; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Guegan K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Subramony SH; Department of Neurology, University of Florida College of Medicine, Gainesville, FL, USA., Diamonstein CJ; Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA., Ping J; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA., Fenner M; Nottingham University Hospital, Nottingham, UK., Balton EV; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Strohbehn S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Allworth A; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Bamshad MJ; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; Department of Pediatrics, University of Washington, Seattle, WA, USA., Gandhi M; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Dipple KM; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; Department of Pediatrics, University of Washington, Seattle, WA, USA., Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; University of Washington School of Public Health, Institute for Public Health Genetics, Seattle, WA, USA., Jarvik GP; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Lau CC; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Holm IA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Solomon BD; Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA., Nelson SF; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., Adams DR; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Kang S; Center for Genomic Integrity, Institute for Basic Science, Ulsan, Republic of Korea., Gahl WA; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Toro C; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Myung K; Center for Genomic Integrity, Institute for Basic Science, Ulsan, Republic of Korea; Department of Biomedical Engineering, Ulsan National Institute of Science and Technology, Ulsan, Republic of Korea., Malicdan MCV; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: maychristine.malicdan@nih.gov.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Sep 05; Vol. 111 (9), pp. 1970-1993. Date of Electronic Publication: 2024 Aug 05.
Autor:
Eisel MLS; Department of Neurology and the Fixel Institute for Neurological Disorders, University of Florida College of Medicine, Gainesville, FL, USA., Burns M; Department of Neurology and the Fixel Institute for Neurological Disorders, University of Florida College of Medicine, Gainesville, FL, USA., Ashizawa T; Stanley H. Appel Department of Neurology, Weill Cornell Medicine at Houston Methodist Hospital, Houston, TX, USA., Byrne B; Department of Pediatrics and the Powell Gene Therapy Center, University of Florida College of Medicine, Gainesville, FL, USA., Corti M; Department of Pediatrics and the Powell Gene Therapy Center, University of Florida College of Medicine, Gainesville, FL, USA., Subramony SH; Department of Neurology and the Fixel Institute for Neurological Disorders, University of Florida College of Medicine, Gainesville, FL, USA. Electronic address: s.subramony@neurology.ufl.edu.
Publikováno v:
Trends in molecular medicine [Trends Mol Med] 2024 Aug 16. Date of Electronic Publication: 2024 Aug 16.
Autor:
Selvadurai LP; Department of Neurology, Ataxia Center, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Massachusetts General Hospital and Harvard Medical School, 100 Cambridge Street, Suite 2000, Boston, MA, 02114, USA., Perlman SL; Department of Neurology, University of California, Los Angeles, Los Angeles, CA, USA., Ashizawa T; Department of Neurology, Houston Methodist Research Institute, Houston, TX, USA., Wilmot GR; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA., Onyike CU; Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD, USA., Rosenthal LS; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA., Shakkottai VG; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA., Paulson HL; Department of Neurology, University of Michigan, Ann Arbor, MI, USA., Subramony SH; Department of Neurology, McKnight Brain Institute, University of Florida College of Medicine, Gainesville, FL, USA., Bushara KO; Department of Neurology, University of Minnesota, Minneapolis, MN, USA., Kuo SH; Department of Neurology, Columbia University, New York, NY, USA., Dietiker C; Department of Neurology, University of California, San Francisco, CA, USA., Geschwind MD; Department of Neurology, University of California, San Francisco, CA, USA., Nelson AB; Department of Neurology, University of California, San Francisco, CA, USA., Gomez CM; Department of Neurology, University of Chicago, Chicago, IL, USA., Opal P; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Zesiewicz TA; Department of Neurology, University of South Florida Ataxia Research Center, Tampa, FL, USA., Hawkins T; Department of Neurology, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA., Yacoubian TA; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA., Nopoulos PC; Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA., Sha SJ; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, USA., Morrison PE; Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA., Figueroa KP; Department of Neurology, University of Utah, Salt Lake City, UT, USA., Pulst SM; Department of Neurology, University of Utah, Salt Lake City, UT, USA., Schmahmann JD; Department of Neurology, Ataxia Center, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Massachusetts General Hospital and Harvard Medical School, 100 Cambridge Street, Suite 2000, Boston, MA, 02114, USA. jschmahmann@mgh.harvard.edu.
Publikováno v:
Cerebellum (London, England) [Cerebellum] 2024 Aug; Vol. 23 (4), pp. 1411-1425. Date of Electronic Publication: 2024 Jan 02.
Autor:
Petit E; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, Inria, AP-HP, Paris, France. emilien.petit@icm-institute.org., Schmitz-Hübsch T; Experimental and Clinical Research Center, A Cooperation of Max-Delbrueck Center of Molecular Medicine and Charité - Universitätsmedizin Berlin, Berlin, Germany., Coarelli G; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, Inria, AP-HP, Paris, France., Jacobi H; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany., Heinzmann A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, Inria, AP-HP, Paris, France., Figueroa KP; Department of Neurology, University of Utah, Salt Lake City, UT, 84132, USA., Perlman SL; Department of Neurology, University of California, Los Angeles, Los Angeles, CA, USA., Gomez CM; Department of Neurology, University of Chicago, Chicago, IL, USA., Wilmot GR; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA., Schmahmann JD; Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Ying SH; Department of Neurology, Johns Hopkins University, Baltimore, MD, USA., Zesiewicz TA; Department of Neurology, University of South Florida, Tampa, FL, USA., Paulson HL; Department of Neurology, University of Michigan, Ann Arbor, MI, USA., Shakkottai VG; Department of Neurology, University of Michigan, Ann Arbor, MI, USA., Bushara KO; Department of Neurology, University of Minnesota, Minneapolis, MN, USA., Kuo SH; Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA., Geschwind MD; Department of Neurology, University of California, San Francisco, CA, USA., Xia G; Department of Neurology and McKnight Brain Institute, University of Florida, Gainesville, FL, USA., Pulst SM; Department of Neurology, University of Utah, Salt Lake City, UT, 84132, USA., Subramony SH; Department of Neurology and McKnight Brain Institute, University of Florida, Gainesville, FL, USA., Ewenczyk C; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, Inria, AP-HP, Paris, France., Brice A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, Inria, AP-HP, Paris, France., Durr A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, Inria, AP-HP, Paris, France., Klockgether T; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany., Ashizawa T; Weill Cornell Medicine at Houston Methodist Hospital, Houston, TX, USA., Tezenas du Montcel S; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, Inria, AP-HP, Paris, France.
Publikováno v:
Journal of neurology [J Neurol] 2024 Jul; Vol. 271 (7), pp. 3743-3753. Date of Electronic Publication: 2024 Jun 01.
Autor:
Seabury J; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Varma A; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Weinstein J; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Rosero SJ; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Engebrecht C; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Khosa S; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Zizzi C; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Wagner ES; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Alexandrou D; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Cohen BL; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Dilek N; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Heatwole JM; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Lynch DR; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Park CC; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Wells M; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Subramony SH; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville., Heatwole CR; Center for Health + Technology (JS, AV, JW, SJR, CE, SK, CZ, ESW, BLC, CRH); Department of Neurology (CZ, ND, CRH), University of Rochester, NY; Loyola University Chicago Stritch School of Medicine (DA), Maywood, IL; Cornell University (JMH), Ithaca, NY; Department of Neurology (DRL); Children's Hospital of Philadelphia (CHOP) (CCP, MW), PA; and Department of Neurology (SHS), University of Florida College of Medicine, Gainsville.
Publikováno v:
Neurology. Clinical practice [Neurol Clin Pract] 2024 Jun; Vol. 14 (3), pp. e200303. Date of Electronic Publication: 2024 May 10.
Autor:
Rummey C; Clinical Data Science GmbH, Basel, Switzerland., Perlman S; Department of Neurology, University of California, Los Angeles, California, USA., Subramony SH; Department of Neurology, Fixel Center for Neurological Disorders, 3009, SW Williston Road, Gainesville, Florida, 32608, USA., Farmer J; Friedreich's Ataxia Research Alliance, Downingtown, Pennsylvania, USA., Lynch DR; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 May; Vol. 11 (5), pp. 1290-1300. Date of Electronic Publication: 2024 Mar 31.
Autor:
Tawil R; Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA., Wagner KR; Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD, USA., Hamel JI; Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA., Leung DG; Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD, USA., Statland JM; University of Kansas, Lawrence, KS, USA., Wang LH; University of Washington, Seattle, WA, USA., Genge A; Montreal Neurological Institute and Hospital, Montreal, QC, Canada., Sacconi S; Peripheral Nervous System and Muscle Department, Nice University Hospital and University of Côte d'Azur, Nice, France., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada., Reyes-Leiva D; Institut de Recerca IIB Sant Pau, Hospital Universitari Santa Creu i Sant Pau, Barcelona, Spain., Diaz-Manera J; Institut de Recerca IIB Sant Pau, Hospital Universitari Santa Creu i Sant Pau, Barcelona, Spain; John Walton Muscular Dystrophy Research Center, Newcastle University, Newcastle, UK., Alonso-Perez J; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario Nuestra Señora de Candelaria, Fundación Canaria Instituto de Investigación Sanitaria de Canarias, Santa Cruz de Tenerife, Tenerife, Spain; Neuromuscular Diseases Unit, Neurology Department, Institut d'Investigació Biomèdica Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Muelas N; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politecnic La Fe and Neuromuscular Reference Centre, Valencia, Spain; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain; Department of Medicine, University of Valencia, Valencia, Spain., Vilchez JJ; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain., Pestronk A; Washington University in St Louis, St Louis, MO, USA., Gibson S; University of Utah, Salt Lake City, UT, USA., Goyal NA; University of California at Irvine, Irvine, CA, USA., Hayward LJ; University of Massachusetts, Worcester, MA, USA., Johnson N; Virginia Commonwealth University, Richmond, VA, USA., LoRusso S; Ohio State University Wexner Medical Center, Columbus, OH, USA., Freimer M; Ohio State University Wexner Medical Center, Columbus, OH, USA., Shieh PB; University of California at Los Angeles, Los Angeles, CA, USA., Subramony SH; University of Florida College of Medicine, Gainesville, FL, USA., van Engelen B; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Kools J; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Leinhard OD; AMRA Medical, Linköping, Sweden; Division of Diagnostics and Specialist Medicine, Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden; Center for Medical Image Science and Visualization, Linköping University, Linköping, Sweden., Widholm P; AMRA Medical, Linköping, Sweden; Division of Diagnostics and Specialist Medicine, Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden; Center for Medical Image Science and Visualization, Linköping University, Linköping, Sweden; Department of Radiology, Linköping University, Linköping, Sweden., Morabito C; Fulcrum Therapeutics, Cambridge, MA, USA., Moxham CM; Fulcrum Therapeutics, Cambridge, MA, USA., Cadavid D; Fulcrum Therapeutics, Cambridge, MA, USA., Mellion ML; Fulcrum Therapeutics, Cambridge, MA, USA., Odueyungbo A; Fulcrum Therapeutics, Cambridge, MA, USA., Tracewell WG; Fulcrum Therapeutics, Cambridge, MA, USA., Accorsi A; Fulcrum Therapeutics, Cambridge, MA, USA., Ronco L; Fulcrum Therapeutics, Cambridge, MA, USA., Gould RJ; Fulcrum Therapeutics, Cambridge, MA, USA., Shoskes J; Fulcrum Therapeutics, Cambridge, MA, USA., Rojas LA; Fulcrum Therapeutics, Cambridge, MA, USA., Jiang JG; Fulcrum Therapeutics, Cambridge, MA, USA. Electronic address: jjiang@fulcrumtx.com.
Publikováno v:
The Lancet. Neurology [Lancet Neurol] 2024 May; Vol. 23 (5), pp. 477-486.