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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Martínez-González, Maria Jesús; Levandoski, Kristin M; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila.
Afiliação
  • Saffari A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Lau T; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Heidelberg, Germany.
  • Tajsharghi H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.
  • Karimiani EG; School of Health Sciences, Division of Biomedicine, University of Skovde, Skovde, Sweden.
  • Kariminejad A; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.
  • Efthymiou S; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
  • Zifarelli G; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
  • Sultan T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.
  • Toosi MB; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.
  • Sedighzadeh S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.
  • Siu VM; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Ortigoza-Escobar JD; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
  • AlShamsi AM; Department of Biological Sciences, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Ibrahim S; KaryoGen, Isfahan, Iran.
  • Al-Sannaa NA; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
  • Al-Hertani W; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
  • Sandra W; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE.
  • Tarnopolsky M; Department of pediatrics and child Health, Aga Khan University, Karachi, Pakistan.
  • Alavi S; Pediatric Services, John Hopkins Aramco Health Care, Dhahran, Saudi Arabia.
  • Li C; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA.
  • Day-Salvatore DL; APHP UF de Génétique Clinique, Centre de Référence des Anomalies du Développement et Syndromes Malformatifs, APHP, Hôpital Armand Trousseau, ERN ITHACA, Sorbonne Université, Paris, France.
  • Martínez-González MJ; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada.
  • Levandoski KM; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.
  • Bedoukian E; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada.
  • Madan-Khetarpal S; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA.
  • Idleburg MJ; Pediatric Neurology Unit, Cruces University Hospital, Barakaldo, Vizcaya, Spain.
  • Menezes MJ; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA.
  • Siddharth A; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Platzer K; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
  • Oppermann H; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
  • Smitka M; Department of Anaesthesia, the Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Collins F; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.
  • Lek M; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA.
  • Shahrooei M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Ghavideldarestani M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Herman I; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany.
  • Rendu J; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.
  • Faure J; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Baker J; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.
  • Bhambhani V; Medical Laboratory of Dr. Shahrooei, Tehran, Iran.
  • Calderwood L; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium.
  • Akhondian J; Medical Laboratory of Dr. Shahrooei, Tehran, Iran.
  • Imannezhad S; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Mirzadeh HS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Hashemi N; Texas Children's Hospital, Houston, TX, USA.
  • Doosti M; Division of Pediatric Neuroscience, Boys Town National Research Hospital, Boys Town, NE, USA.
  • Safi M; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.
  • Ahangari N; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.
  • Torbati PN; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA.
  • Abedini S; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA.
Brain ; 146(8): 3273-3288, 2023 08 01.
Article em En | MEDLINE | ID: mdl-36757831
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / Distonia / Malformações do Sistema Nervoso Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Revista: Brain Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / Distonia / Malformações do Sistema Nervoso Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Revista: Brain Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido