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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Yap, Zheng Yie; Efthymiou, Stephanie; Seiffert, Simone; Vargas Parra, Karen; Lee, Sukyeong; Nasca, Alessia; Maroofian, Reza; Schrauwen, Isabelle; Pendziwiat, Manuela; Jung, Sunhee; Bhoj, Elizabeth; Striano, Pasquale; Mankad, Kshitij; Vona, Barbara; Cuddapah, Sanmati; Wagner, Anja; Alvi, Javeria Raza; Davoudi-Dehaghani, Elham; Fallah, Mohammad-Sadegh; Gannavarapu, Srinitya; Lamperti, Costanza; Legati, Andrea; Murtaza, Bibi Nazia; Nadeem, Muhammad Shahid; Rehman, Mujaddad Ur; Saeidi, Kolsoum; Salpietro, Vincenzo; von Spiczak, Sarah; Sandoval, Abigail; Zeinali, Sirous; Zeviani, Massimo; Reich, Adi; Jang, Cholsoon; Helbig, Ingo; Barakat, Tahsin Stefan; Ghezzi, Daniele; Leal, Suzanne M; Weber, Yvonne; Houlden, Henry; Yoon, Wan Hee.
Afiliación
  • Yap ZY; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
  • Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Seiffert S; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.
  • Vargas Parra K; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
  • Lee S; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Nasca A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta," via Temolo 4, 20126 Milan, Italy.
  • Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Schrauwen I; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
  • Pendziwiat M; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel 24105, Germany.
  • Jung S; Department of Biological Chemistry, University of California, Irvine, Irvine, CA 92697, USA.
  • Bhoj E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16124 Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS, Istituto "Giannina Gaslini," Genoa 16123, Italy.
  • Mankad K; Neuroradiology Unit, Great Ormond Street Hospital for Children, London WC1N3JH, UK.
  • Vona B; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, 72076 Tübingen, Germany.
  • Cuddapah S; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Wagner A; Department of Clinical Genetics, Erasmus University Medical Center, Erasmus MC Cancer Institute, 3000 Rotterdam, the Netherlands.
  • Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore 54600, Pakistan.
  • Davoudi-Dehaghani E; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran 1316943551, Iran.
  • Fallah MS; Department of Medical Genetics, Kawsar Human Genetics Research Center, Tehran 15956-45513, Iran.
  • Gannavarapu S; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 5C1, Canada.
  • Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta," via Temolo 4, 20126 Milan, Italy.
  • Legati A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta," via Temolo 4, 20126 Milan, Italy.
  • Murtaza BN; Department of Zoology, Abbottabad University of Science and Technology, Abbottabad 22500, Pakistan.
  • Nadeem MS; Department of Biochemistry, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
  • Rehman MU; Department of Microbiology, Abbottabad University of Science and Technology, Abbottabad 22500, Pakistan.
  • Saeidi K; Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman 7616914115, Iran.
  • Salpietro V; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16124 Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS, Istituto "Giannina Gaslini," Genoa 16123, Italy.
  • von Spiczak S; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel 24105, Germany; DRK-Northern German Epilepsy Centre for Children and Adolescents, 24223 Schwentinental-Raisdorf, Germany.
  • Sandoval A; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
  • Zeinali S; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran 1316943551, Iran.
  • Zeviani M; Department of Neurosciences, University of Padova, via Giustiniani 2, Padova 35128, Italy.
  • Reich A; GeneDx, Gaithersburg, MD 20877, USA.
  • Jang C; Department of Biological Chemistry, University of California, Irvine, Irvine, CA 92697, USA.
  • Helbig I; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel 24105, Germany; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Depa
  • Barakat TS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands.
  • Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta," via Temolo 4, 20126 Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
  • Leal SM; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA; Taub Institute for Alzheimer Disease and the Aging Brain, Columbia University Medical Center, New York, NY 10032, USA.
  • Weber Y; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany; Department of Epileptology and Neurology, University of Aachen, Aachen 52074, Germany.
  • Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Yoon WH; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA. Electronic address: wanhee-yoon@omrf.org.
Am J Hum Genet ; 108(12): 2368-2384, 2021 12 02.
Article en En | MEDLINE | ID: mdl-34800363
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia / Trastornos de la Visión / Epilepsia / Trastornos del Neurodesarrollo / Pérdida Auditiva / Complejo Cetoglutarato Deshidrogenasa / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Animals / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia / Trastornos de la Visión / Epilepsia / Trastornos del Neurodesarrollo / Pérdida Auditiva / Complejo Cetoglutarato Deshidrogenasa / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Animals / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos