المؤلفون: Tarquinio, DC, Hou, W, Neul, JL, Kaufmann, WE, Glaze, DG, Motil, KJ, Skinner, SA, Lee, HS, Percy, AK

المصدر: Pediatric Neurology. 53(5)

مصطلحات موضوعية: Neurosciences, Paediatrics and Reproductive Medicine, Neurology & Neurosurgery

URL الوصول: https://escholarship.org/uc/item/05z3j0mh

المؤلفون: Tarquinio DC, Motil KJ, Hou W, Lee HS, Glaze DG, Skinner SA, Neul JL, Annese F, McNair L, Barrish JO, Geerts SP, Lane JB, Percy AK, Tarquinio, Daniel Charles, Motil, Kathleen J, Hou, Wei, Lee, Hye-Seung, Glaze, Daniel G, Skinner, Steven A, Neul, Jeff L

المصدر: Neurology; 10/16/2012, Vol. 79 Issue 16, p1653-1661, 9p

المؤلفون: Ferretti A; Pediatrics Unit, Faculty of Medicine and Psychology, Department of Neuroscience, Mental Health and Sense Organs (NESMOS), Sapienza University of Rome, Rome, Italy; Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Furlan M; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy., Glinton KE; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas., Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Amplexa Genetics A/S, Odense, Denmark., Boschann F; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany; Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany., Amlie-Wolf L; Division of Medical Genetics, Nemours Children's Health, Wilmington, Delaware., Zeidler S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Moretti R; APHP-Sorbonne Université, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Stoltenburg C; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Sozialpädiatrisches Zentrum Neuropädiatrie, Berlin, Germany., Tarquinio DC; Rett Syndrome Clinic, Center for Rare Neurological Diseases, Norcross, Georgia., Furia F; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Faculty of Health Sciences, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Parisi P; Pediatrics Unit, Faculty of Medicine and Psychology, Department of Neuroscience, Mental Health and Sense Organs (NESMOS), Sapienza University of Rome, Rome, Italy., Rubboli G; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; Member of ERN EpiCARE., Devinsky O; NYU Langone Epilepsy Center, Department of Neurology, NYU Grossman School of Medicine, New York City, New York., Mignot C; APHP-Sorbonne Université, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Gripp KW; Division of Medical Genetics, Nemours Children's Health, Wilmington, Delaware., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Faculty of Health Sciences, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE., Yang Y; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas; AiLife Diagnostics, Pearland, Texas., Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas., Gardella E; Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Faculty of Health Sciences, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE. Electronic address: elga@filadelfia.dk.

المصدر: Pediatric neurology [Pediatr Neurol] 2024 Sep; Vol. 158, pp. 17-25. Date of Electronic Publication: 2024 Jun 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , Epilepsy*/physiopathology , Epilepsy*/drug therapy , Epilepsy*/genetics , Electroencephalography*, Humans ; Child ; Male ; Female ; Child, Preschool ; Adolescent ; Adult ; Young Adult

المؤلفون: De Giorgis V; Department of Child Neurology and Psychiatry, Mondino Foundation, Pavia, Italy., Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom., Boespflug-Tanguy O; Service de Neurologie Pédiatrique, Centre de Référence Leucodystrophies et Leucoencephalopathies de Cause Rare (LEUKOFRANCE), APHP Robert-Debré, Paris, France., Gras D; Service de Neurologie Pédiatrique, Centre de Référence Leucodystrophies et Leucoencephalopathies de Cause Rare (LEUKOFRANCE), APHP Robert-Debré, Paris, France., Marina AD; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Desurkar A; Neurology Department, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom., Toledo M; Epilepsy Unit, Neurology Department, Hospital Vall d'Hebron, Barcelona, Spain., Miller I; Department of Neurology and Comprehensive Epilepsy Program, Brain Institute, Miami Children's Hospital, Miami, Florida, USA., Rotstein M; Pediatric Movement Disorders Service, The Pediatric Neurology Unite and Child Development Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Schneider SA; Department of Neurology, Ludwig-Maximilians-University of München, Munich, Germany., Tarquinio DC; Center for Rare Neurological Diseases, Norcross, Georgia, USA., Weber Y; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Section of Epileptology, Department of Neurology, University Hospital RWTH Aachen, Aachen, Germany., Brandabur M; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Mayhew J; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Koutsoukos T; Ultragenyx Pharmaceutical Inc., Novato, California, USA., De Vivo DC; Department of Neurology and Pediatrics, Columbia University, New York, New York, USA.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 May 09. Date of Electronic Publication: 2024 May 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

المؤلفون: Suresha PB; School of Electrical and Computer Engineering, Georgia Institute of Technology, Atlanta, GA, United States of America.; Department of Biomedical Informatics, School of Medicine, Emory University, Atlanta, GA, United States of America., O'Leary H; Rett Syndrome Research Trust, Trumbull, CT, United States of America., Tarquinio DC; Center for Rare Neurological Diseases, Norcross, GA, United States of America., Von Hehn J; Rett Syndrome Research Trust, Trumbull, CT, United States of America., Clifford GD; Department of Biomedical Informatics, School of Medicine, Emory University, Atlanta, GA, United States of America.; Department of Biomedical Engineering, Georgia Institute of Technology, Atlanta, GA, United States of America.

المصدر: PloS one [PLoS One] 2023 Mar 01; Vol. 18 (3), pp. e0266351. Date of Electronic Publication: 2023 Mar 01 (Print Publication: 2023).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Quality of Life* , Rett Syndrome*, Humans ; Heart Rate ; Movement ; Outpatients

المؤلفون: Bearden DJ; Department of Neuropsychology, Children's Healthcare of Atlanta, Atlanta, GA, USA.; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA., Shakil S; Alabama College of Osteopathic Medicine, Dothan, AL, USA., O'Banion D; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Department of Developmental Pediatrics, Children's Healthcare of Atlanta, Atlanta, GA, USA., Ono KE; Department of Neuropsychology, Children's Healthcare of Atlanta, Atlanta, GA, USA.; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA., Drane DL; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Department of Neurology University of Washington School of Medicine, Seattle, WA, USA., Loring DW; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA., Tarquinio DC; Center for Rare Neurological Diseases, Atlanta, GA, USA.

المصدر: Epilepsy & behavior reports [Epilepsy Behav Rep] 2021 Feb 10; Vol. 16, pp. 100435. Date of Electronic Publication: 2021 Feb 10 (Print Publication: 2021).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101750909 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-9864 (Electronic) Linking ISSN: 25899864 NLM ISO Abbreviation: Epilepsy Behav Rep Subsets: PubMed not MEDLINE

المؤلفون: Hou W; Stony Brook University Medical Center, Stony Brook, New York., Tarquinio DC; Center for Rare Neurological Diseases, Norcross, Georgia. Electronic address: daniel@rareneuro.com.

المصدر: Pediatric neurology [Pediatr Neurol] 2020 Oct; Vol. 111, pp. 88. Date of Electronic Publication: 2020 Aug 22.

نوع المنشور: Letter; Comment

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Rett Syndrome*, Humans ; Surveys and Questionnaires

المؤلفون: Hou W; Stony Brook University Medical Center, Stony Brook, New York., Bhattacharya U; University of Georgia, Athens, Georgia., Pradana WA; University of Georgia, Athens, Georgia., Tarquinio DC; Center for Rare Neurological Diseases, Norcross, Georgia. Electronic address: daniel@rareneuro.com.

المصدر: Pediatric neurology [Pediatr Neurol] 2020 Jun; Vol. 107, pp. 48-56. Date of Electronic Publication: 2020 Feb 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Behavioral Symptoms/*diagnosis , Clinical Trials as Topic/*standards , Outcome Assessment, Health Care/*standards , Psychiatric Status Rating Scales/*standards , Psychometrics/*standards , Rett Syndrome/*diagnosis, Adolescent ; Adult ; Behavioral Symptoms/etiology ; Biomarkers ; Child ; Child, Preschool ; Cohort Studies ; Female ; Humans ; Rett Syndrome/complications ; Surveys and Questionnaires ; Young Adult

المؤلفون: Tarquinio DC; Emory University, Atlanta, GA, United States; Center for Rare Neurological Diseases, Norcross, GA, United States. Electronic address: daniel@rareneuro.com., Hou W; Statistical Analysis, Stony Brook University Medical Center, Stony Brook, NY, United States., Neul JL; Vanderbilt University, Nashville, TN, United States., Berkmen GK; Emory University, Atlanta, GA, United States; Center for Rare Neurological Diseases, Norcross, GA, United States., Drummond J; Emory University, Atlanta, GA, United States; Center for Rare Neurological Diseases, Norcross, GA, United States., Aronoff E; Emory University, Atlanta, GA, United States; Center for Rare Neurological Diseases, Norcross, GA, United States., Harris J; Center for Rare Neurological Diseases, Norcross, GA, United States., Lane JB; University of Alabama at Birmingham, AL, United States., Kaufmann WE; Greenwood Genetic Center, Greenwood, SC, United States., Motil KJ; Baylor College of Medicine, Houston, TX, United States., Glaze DG; Baylor College of Medicine, Houston, TX, United States., Skinner SA; Greenwood Genetic Center, Greenwood, SC, United States., Percy AK; University of Alabama at Birmingham, AL, United States.

المصدر: Brain & development [Brain Dev] 2018 Aug; Vol. 40 (7), pp. 515-529. Date of Electronic Publication: 2018 Apr 12.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE

مواضيع طبية MeSH: Respiration Disorders/*physiopathology , Rett Syndrome/*physiopathology, Adult ; Age Factors ; Aged ; Body Mass Index ; Child ; Child, Preschool ; Cross-Sectional Studies ; Disease Progression ; Female ; Humans ; Infant ; Longitudinal Studies ; Male ; Middle Aged ; Prevalence ; Quality of Life ; Respiration Disorders/epidemiology ; Respiration Disorders/etiology ; Respiration Disorders/genetics ; Rett Syndrome/complications ; Rett Syndrome/epidemiology ; Rett Syndrome/genetics ; Risk Factors ; Scoliosis/complications ; Scoliosis/epidemiology ; Scoliosis/genetics ; Scoliosis/physiopathology ; Seizures/complications ; Seizures/epidemiology ; Seizures/genetics ; Seizures/physiopathology ; Young Adult

المؤلفون: O'Leary HM; Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Kaufmann WE; Greenwood Genetic Center Greenwood South Carolina 29646., Barnes KV; Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Rakesh K; Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Kapur K; Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Tarquinio DC; Center for Rare Neurological Diseases Norcross Georgia 30093., Cantwell NG; Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Roche KJ; Division of Developmental Medicine Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Rose SA; Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Walco AC; Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Bruck NM; Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Bazin GA; Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Holm IA; Department of Pediatrics Harvard Medical School Boston Massachusetts 02115.; Division of Genetics and Genomics and the Manton Center for Orphan Disease Research Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Alexander ME; Department of Pediatrics Harvard Medical School Boston Massachusetts 02115.; Department of Cardiology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Swanson LC; Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Baczewski LM; Division of Developmental Medicine Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Poon C, Mayor Torres JM; Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115.; Department of Information Engineering and Computer Science University of Trento Trento Italy.; Department of Psychology Stony Brook University Stony Brook New York 11794., Nelson CA 3rd; Division of Developmental Medicine Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115., Sahin M; Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115.; Translational Neuroscience Center Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115.

المصدر: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2018 Jan 31; Vol. 5 (3), pp. 323-332. Date of Electronic Publication: 2018 Jan 31 (Print Publication: 2018).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: eCollection Cited Medium: Print ISSN: 2328-9503 (Print) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: PubMed not MEDLINE