Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Wu-Chou YH"'
Autor:
Olgiati, Simone, Skorvanek, M, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido, Bonte, Ramon, Ozgur, Zeliha, Van den Hout - van Vroonhoven, Mirjam, Schoonderwoerd, Kees, Verheijen, Frans, van Ijcken, Wilfred, Chien, HF, Barbosa, ER, Chang, HC, Lai, SC, Yeh, TH, Lu, CS, Wu-Chou, YH, Kievit, Anneke, Han, V, Gdovinova, Z, Jech, R, Hofstra, Robert, Ruijter, George, Mandemakers, Wim, Bonifati, Vincenzo
Publikováno v:
Movement Disorders, 31(7), 1041-1048. John Wiley & Sons Inc.
BackgroundECHS1 encodes a mitochondrial enzyme involved in the degradation of essential amino acids and fatty acids. Recently, ECHS1 mutations were shown to cause a new severe metabolic disorder presenting as Leigh or Leigh-like syndromes. The object
Autor:
Bonifati, Vincenzo, Wu-Chou, YH, Schweiger, D (Dorothea), Di Fonzo, Alessio, Lu, CS, Oostra, Ben
Publikováno v:
Neurology, 70(24), 2348-2348. Lippincott Williams & Wilkins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::f9594e23189ad7da9bb5e917355caac2
https://pure.eur.nl/en/publications/3504d4a1-d8fe-4cd7-b31f-dc62eb9eae17
https://pure.eur.nl/en/publications/3504d4a1-d8fe-4cd7-b31f-dc62eb9eae17
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Bonifati V, Wu-Chou YH, Schweiger D, Fonzo AD, Lu CS, Oostra B, Bonifati, V, Wu-Chou, Y-H, Schweiger, D, Fonzo, A Di, Lu, C-S, Oostra, B
Publikováno v:
Neurology; 6/10/2008 Part 1 of 2, Vol. 70 Issue 24, p2348-2349, 2p
Autor:
Wu-Chou YH; Department of Medical Research and Development, Chang Gung Memorial Hospital at Linko, Taoyuan, Taiwan. Electronic address: yhwc8876@gmail.com., Hsieh CH; Department of Medical Oncology, Chang Gung Memorial Hospital at Linkou and Chang Gung University, Taoyuan, Taiwan., Liao CT; Department of Head and Neck Oncology Group, Chang Gung Memorial Hospital at Linkou and Chang Gung University, Taoyuan, Taiwan., Lin YT; Department of Medical Research and Development, Chang Gung Memorial Hospital at Linko, Taoyuan, Taiwan., Fan WL; Genomic Medicine Core Laboratory, Department of Medical Research and Development, Chang Gung Memorial Hospital at Linko, Taoyuan, Taiwan., Yang CH; Department of Anatomic Pathology, Chang Gung Memorial Hospital at Keelung, Taiwan.
Publikováno v:
Pathology, research and practice [Pathol Res Pract] 2021 Jul; Vol. 223, pp. 153474. Date of Electronic Publication: 2021 May 10.
Autor:
Kuipers DJS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Mandemakers W; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Lu CS; Professor Lu Neurological Clinic, Taoyuan, Taiwan.; Section of Movement Disorders, Department of Neurology and Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Olgiati S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Breedveld GJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Fevga C; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Tadic V; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Carecchio M; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.; Department of Neuroscience, University of Padua, Padua, Italy., Osterman B; Division of Child Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada., Sagi-Dain L; Genetics Institute, Carmel Medical Center, Ruth and Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel., Wu-Chou YH; Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Chen CC; Section of Movement Disorders, Department of Neurology and Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Department of Medicine, Chang Gung University, Taoyuan, Taiwan., Chang HC; Professor Lu Neurological Clinic, Taoyuan, Taiwan.; Section of Movement Disorders, Department of Neurology and Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Wu SL; Department Neurology, Changhua Christian Hospital, Chunghua, Taiwan., Yeh TH; Department of Neurology, Taipei Medical University Hospital, Taipei, Taiwan.; School of Medicine, Taipei Medical University, Taipei, Taiwan., Weng YH; Section of Movement Disorders, Department of Neurology and Neuroscience Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Department of Medicine, Chang Gung University, Taoyuan, Taiwan., Elia AE; Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Panteghini C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy., Marotta N; Ken and Ruth Davee Department of Neurology and Simpson Querry Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA., Pauly MG; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Kühn AA; Department of Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität of Berlin and Humboldt, Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany., Volkmann J; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Lace B; Centre Hospitalier Universitaire de Québec, Quebec City, Quebec, Canada., Meijer IA; Department of Neurosciences and Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, Quebec, Canada., Kandaswamy K; Centogene AG, Rostock, Germany., Quadri M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Janssen Vaccines and Prevention, Leiden, the Netherlands., Garavaglia B; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Bauer P; Centogene AG, Rostock, Germany., Mencacci NE; Ken and Ruth Davee Department of Neurology and Simpson Querry Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA., Lubbe SJ; Ken and Ruth Davee Department of Neurology and Simpson Querry Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA., Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Bertoli-Avella AM; Centogene AG, Rostock, Germany., Bonifati V; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
Publikováno v:
Annals of neurology [Ann Neurol] 2021 Mar; Vol. 89 (3), pp. 485-497. Date of Electronic Publication: 2020 Dec 15.
Autor:
Bishop MR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Diaz Perez KK; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Sun M; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin, Madison, WI 53706, USA., Ho S; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Chopra P; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Mukhopadhyay N; Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA., Hetmanski JB; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA., Taub MA; Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA., Moreno-Uribe LM; Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA 52242, USA., Valencia-Ramirez LC; Fundación Clínica Noel, Carrera 50 # 63-131, Medellín, Colombia., Restrepo Muñeton CP; Fundación Clínica Noel, Carrera 50 # 63-131, Medellín, Colombia., Wehby G; Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA 52242, USA., Hecht JT; Department of Pediatrics, McGovern Medical School and School of Dentistry, UT Health at Houston, Houston, TX 77030, USA., Deleyiannis F; UCHealth Plastic and Reconstructive Surgery, Colorado Springs, CO 80907, USA., Weinberg SM; Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA., Wu-Chou YH; Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Chen PK; Craniofacial Centre, Taipei Medical University Hospital and Taipei Medical University, Taipei, Taiwan., Brand H; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Epstein MP; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Ruczinski I; Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA., Murray JC; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Beaty TH; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA., Feingold E; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA., Lipinski RJ; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin, Madison, WI 53706, USA., Cutler DJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Marazita ML; Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Jul 02; Vol. 107 (1), pp. 124-136. Date of Electronic Publication: 2020 Jun 22.
Autor:
Wu-Chou YH; Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Craniofacial Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Graduate Institute of Clinical Medical Science, Chang Gung University, Taoyuan, Taiwan., Chen KP; Craniofacial Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Lu YC; Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Craniofacial Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Lin YT; Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Craniofacial Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Chang HF; Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Lo LJ; Craniofacial Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Graduate Institute of Dental and Craniofacial Science, Chang Gung University, Taoyuan, Taiwan.
Publikováno v:
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2020 Jun; Vol. 57 (6), pp. 671-677. Date of Electronic Publication: 2020 Jan 17.
Autor:
Yeh JK; Department of Cardiology., Liu WH; Department of Laboratory Medicine, Linkou Chang Gung Memorial Hospital., Wang CY; Department of Cardiology.; College of Medicine, Chang Gung University, Taoyuan., Lu JJ; Department of Laboratory Medicine, Linkou Chang Gung Memorial Hospital.; College of Medicine, Chang Gung University, Taoyuan., Chen CH; Institute of Biomedical Sciences, Academia Sinica, Taipei., Wu-Chou YH; Department of Medical Research, Linkou Chang Gung Memorial Hospital and Graduate of Institute of Clinical Medical Science, Chang Gung University, Taoyuan, Taiwan., Chang PY; Department of Laboratory Medicine, Linkou Chang Gung Memorial Hospital., Chang SC; Department of Laboratory Medicine, Linkou Chang Gung Memorial Hospital., Yang CH; Department of Cardiology., Tsai ML; Department of Cardiology., Ho MY; Department of Cardiology., Hsieh IC; Department of Cardiology.; College of Medicine, Chang Gung University, Taoyuan., Wen MS; Department of Cardiology.; College of Medicine, Chang Gung University, Taoyuan.
Publikováno v:
Acta Cardiologica Sinica [Acta Cardiol Sin] 2019 Nov; Vol. 35 (6), pp. 571-584.