The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness.

Autor: Hessl D; Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, California, USA drhessl@ucdavis.edu.; MIND Institute, University of California Davis Medical Center, Sacramento, California, USA., Rosselot H; National Fragile X Foundation, McLean, Virginia, USA., Miller R; National Fragile X Foundation, McLean, Virginia, USA., Espinal G; Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, California, USA.; MIND Institute, University of California Davis Medical Center, Sacramento, California, USA., Famula J; Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, California, USA.; MIND Institute, University of California Davis Medical Center, Sacramento, California, USA., Sherman SL; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Todd PK; Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.; VA Ann Arbor Healthcare System, Ann Arbor, Michigan, USA., Cabal Herrera AM; Universidad del Valle School of Medicine, Cali, Colombia., Lipworth K; Fragile X Association of Australia, Brookvale, New South Wales, Australia., Cohen J; Genetic Clinics Australia, Victoria, Melbourne, Australia., Hall DA; Department of Neurological Sciences, Rush University, Chicago, Illinois, USA., Leehey M; Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA., Grigsby J; Department of Psychology, University of Colorado Denver, Denver, Colorado, USA.; Department of Medicine, University of Colorado Denver, Denver, Colorado, USA., Weber JD; National Fragile X Foundation, McLean, Virginia, USA., Alusi S; Walton Centre, Liverpool, UK., Wheeler A; RTI International, Research Triangle Park, North Carolina, USA., Raspa M; RTI International, Research Triangle Park, North Carolina, USA., Hudson T; Department of Pharmacology, Howard University College of Medicine, Washington, District of Columbia, USA., Sobrian SK; Department of Pharmacology, Howard University College of Medicine, Washington, District of Columbia, USA.

Publikováno v: Journal of medical genetics [J Med Genet] 2022 Dec; Vol. 59 (12), pp. 1165-1170. Date of Electronic Publication: 2022 Jun 14.

Effect of Urate-Elevating Inosine on Early Parkinson Disease Progression: The SURE-PD3 Randomized Clinical Trial.

Autor: Schwarzschild MA; Mass General Institute for Neurodegenerative Disease, Boston, Massachusetts.; Massachusetts General Hospital, Boston., Ascherio A; Harvard School of Public Health, Boston, Massachusetts., Casaceli C; University of Rochester, Rochester, New York., Curhan GC; Brigham and Women's Hospital, Boston, Massachusetts., Fitzgerald R; Parkinson's Foundation Research Advocates, Parkinson's Foundation, New York, New York., Kamp C; University of Rochester, Rochester, New York., Lungu C; Division of Clinical Research, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland., Macklin EA; Massachusetts General Hospital, Boston.; Harvard Medical School, Boston, Massachusetts., Marek K; Institute for Neurodegenerative Disorders, New Haven, Connecticut., Mozaffarian D; Tufts School of Medicine and Division of Cardiology, Tufts Medical Center, Boston, Massachusetts.; Friedman School of Nutrition Science and Policy, Boston, Massachusetts., Oakes D; University of Rochester, Rochester, New York., Rudolph A; University of Rochester, Rochester, New York., Shoulson I; Department of Neurology, University of Rochester Medical Center, Rochester, New York., Videnovic A; Massachusetts General Hospital, Boston., Scott B; Duke University, Durham, North Carolina., Gauger L; Duke Medical Center, Durham, North Carolina., Aldred J; Inland Northwest Research, Spokane, Washington.; Selkirk Neurology, Spokane, Washington., Bixby M; Inland Northwest Research, Spokane, Washington., Ciccarello J; Inland Northwest Research, Spokane, Washington., Gunzler SA; University Hospitals Cleveland Medical Center, Cleveland, Ohio., Henchcliffe C; University of California, Irvine.; Weill Cornell Medical College, New York, New York., Brodsky M; Oregon Health & Science University, Portland., Keith K; Oregon Health & Science University, Portland., Hauser RA; University of South Florida, Tampa., Goetz C; Rush University Medical Center, Chicago, Illinois., LeDoux MS; Veracity Neuroscience LLC, Memphis, Tennessee., Hinson V; Medical University of South Carolina, Charleston., Kumar R; Rocky Mountain Movement Disorders Center, Englewood, Colorado., Espay AJ; University of Cincinnati, Cincinnati, Ohio., Jimenez-Shahed J; Icahn School of Medicine at Mount Sinai, New York, New York., Hunter C; Baylor College of Medicine, Houston, Texas., Christine C; University of California, San Francisco., Daley A; University of California, San Francisco., Leehey M; University of Colorado, Denver., de Marcaida JA; Ayer Neuroscience Institute, Hartford HealthCare, Hartford, Connecticut., Friedman JH; Butler Hospital, Providence, Rhode Island., Hung A; Massachusetts General Hospital, Boston., Bwala G; Massachusetts General Hospital, Boston., Litvan I; University of California, San Diego., Simon DK; Beth Israel Deaconess Medical Center, Boston, Massachusetts., Simuni T; Northwestern University Feinberg School of Medicine, Chicago, Illinois., Poon C; Northwestern University Feinberg School of Medicine, Chicago, Illinois., Schiess MC; The University of Texas Health Science Center, Houston McGovern Medical School, Houston., Chou K; University of Michigan, Ann Arbor., Park A; The Ohio State University Wexner Medical Center, Columbus., Bhatti D; University of Nebraska Medical Center, Omaha., Peterson C; University of Nebraska Medical Center, Omaha., Criswell SR; Washington University School of Medicine in St Louis, St Louis, Missouri., Rosenthal L; Johns Hopkins School of Medicine, Baltimore, Maryland., Durphy J; Albany Medical College, Albany, New York., Shill HA; Banner Sun Health Research Institute, Sun City, Arizona.; University of Arizona School of Medicine-Phoenix., Mehta SH; Mayo Clinic Arizona, Scottsdale., Ahmed A; Cleveland Clinic, Cleveland, Ohio., Deik AF; University of Pennsylvania, Philadelphia., Fang JY; Vanderbilt University Medical Center, Nashville, Tennessee., Stover N; The University of Alabama at Birmingham., Zhang L; UC Davis, Davis, California., Dewey RB Jr; University of Texas Southwestern Medical Center, Dallas., Gerald A; University of Texas Southwestern Medical Center, Dallas., Boyd JT; University of Vermont, Burlington., Houston E; University of Vermont Medical Center, Burlington., Suski V; University of Pittsburgh, Pittsburgh, Pennsylvania., Mosovsky S; University of Pittsburgh, Pittsburgh, Pennsylvania., Cloud L; VCU Parkinson's & Movement Disorders Center, Richmond, Virginia., Shah BB; University of Virginia, Charlottesville., Saint-Hilaire M; Boston University School of Medicine, Boston, Massachusetts., James R; Boston Medical Center, Boston, Massachusetts., Zauber SE; Indiana University, Bloomington., Reich S; University of Maryland School of Medicine, Baltimore., Shprecher D; Banner Sun Health Research Institute, Sun City, Arizona.; University of Arizona School of Medicine-Phoenix., Pahwa R; University of Kansas Medical Center, Kansas City., Langhammer A; University of Kansas Medical Center, Kansas City., LaFaver K; Northwestern University Feinberg School of Medicine, Chicago, Illinois., LeWitt PA; Henry Ford Hospital-West Bloomfield, West Bloomfield Township, Michigan., Kaminski P; Henry Ford Hospital-West Bloomfield, West Bloomfield Township, Michigan., Goudreau J; Michigan State University, East Lansing., Russell D; Michigan State University, East Lansing., Houghton DJ; Ochsner Medical Center, Jefferson, Louisiana., Laroche A; Ochsner Health System, Jefferson, Louisiana., Thomas K; Sentara Neurology Specialists, Norfolk, Virginia., McGraw M; Center for Movement Disorders and Neurodegenerative Disease, Northwestern Medicine/Central DuPage Hospital, Winfield, Illinois., Mari Z; Cleveland Clinic-Las Vegas, Las Vegas, Nevada., Serrano C; University of Puerto Rico, San Juan., Blindauer K; Medical College of Wisconsin, Milwaukee., Rabin M; Atlantic Neuroscience Institute, Summit, New Jersey., Kurlan R; Atlantic Neuroscience Institute, Summit, New Jersey., Morgan JC; Augusta University, Augusta, Georgia., Soileau M; Texas Movement Disorder Specialists, Georgetown.; Scott & White Healthcare/Texas A&M University, Temple., Ainslie M; Baylor Scott & White Health, Temple, Texas., Bodis-Wollner I; State University of New York Downstate Medical Center, Brooklyn., Schneider RB; University of Rochester, Rochester, New York., Waters C; Columbia University, New York, New York., Ratel AS; Columbia University, New York, New York., Beck CA; University of Rochester Medical Center, Rochester, New York., Bolger P; University of Rochester, Rochester, New York., Callahan KF; Massachusetts General Hospital, Boston., Crotty GF; Massachusetts General Hospital, Boston., Klements D; Massachusetts General Hospital, Boston., Kostrzebski M; University of Rochester, Rochester, New York., McMahon GM; Brigham and Women's Hospital, Boston, Massachusetts., Pothier L; Massachusetts General Hospital, Boston., Waikar SS; Boston University School of Medicine, Boston, Massachusetts.; Boston Medical Center, Boston, Massachusetts., Lang A; University of Toronto, Toronto, Ontario, Canada.; Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Ontario, Canada., Mestre T; University of Ottawa, Ottawa, Ontario, Canada.

Publikováno v: JAMA [JAMA] 2021 Sep 14; Vol. 326 (10), pp. 926-939.

FMR1 Disorders: Basics of Biology and Therapeutics in Development.

Autor: Gillett, Drew A.¹ (AUTHOR), Tigro, Helene¹ (AUTHOR), Wang, Yuan¹ (AUTHOR), Suo, Zucai¹ (AUTHOR) zucai.suo@med.fsu.edu

Publikováno v: Cells (2073-4409). Dec2024, Vol. 13 Issue 24, p2100. 15p.

Prevalence and implications of fragile X premutation screening in Thailand.

Autor: Hnoonual, Areerat^1,2 (AUTHOR), Kaewfai, Sunita³ (AUTHOR), Limwongse, Chanin^4,5 (AUTHOR), Limprasert, Pornprot^1,2 (AUTHOR) pornprot.l@psu.ac.th

Publikováno v: Scientific Reports. 11/1/2024, Vol. 14 Issue 1, p1-11. 11p.

Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS).

Autor: Hall DA; Department of Neurological Sciences, Rush University, Chicago, IL, United States of America., Robertson EE; Department of Communication Sciences and Disorders, Northwestern, Chicago, IL, United States of America., Leehey M; University of Colorado Denver, Aurora, CO, United States of America., McAsey A; Department of Cell and Molecular Medicine, Rush University, Chicago, IL United States of America., Ouyang B; Department of Neurological Sciences, Rush University, Chicago, IL, United States of America., Berry-Kravis E; Department of Neurological Sciences, Rush University, Chicago, IL, United States of America.; Department of Biochemistry, Rush University, Chicago, IL, United States of America.; Department of Pediatrics, Rush University, Chicago, IL, United States of America., O'Keefe JA; Department of Neurological Sciences, Rush University, Chicago, IL, United States of America.; Department of Cell and Molecular Medicine, Rush University, Chicago, IL United States of America.

Publikováno v: PloS one [PLoS One] 2020 Feb 13; Vol. 15 (2), pp. e0225191. Date of Electronic Publication: 2020 Feb 13 (Print Publication: 2020).