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Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review.
D'Onofrio, Gianluca; Riva, Antonella; Di Rosa, Gabriella; Cali', Elisa; Efthymiou, Stephanie; Gitto, Eloisa; Madia, Francesca; Accogli, Andrea; Zara, Federico; Houlden, Henry; Salpietro, Vincenzo; Striano, Pasquale; Soler, Doriette.
Afiliación
  • D'Onofrio G; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Riva A; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Di Rosa G; Child Neuropsychiatry Unit, Department of Pediatrics, University of Messina, Messina 98100, Italy.
  • Cali' E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Gower Street, London WC1E 6BT, United Kingdom.
  • Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Gower Street, London WC1E 6BT, United Kingdom.
  • Gitto E; Intensive Neonatal and Pediatric Care Unit, Department of Pediatrics, University of Messina, Messina 98100, Italy.
  • Madia F; Unit of Medical Genetics, IRCCS Istituto "Giannina Gaslini", Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Zara F; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy; Unit of Medical Genetics, IRCCS Istituto "Giannina Gaslini", Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Gower Street, London WC1E 6BT, United Kingdom.
  • Salpietro V; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Via Gerolamo Gaslini 5, 16147 Genoa, Italy; De
  • Striano P; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Soler D; Department of Paediatrics, Mater dei Hospital, Msida, Malta. Electronic address: doriette.m.soler@gov.mt.
Brain Dev ; 44(7): 469-473, 2022 Aug.
Article en En | MEDLINE | ID: mdl-35414446
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Rett / Distonía / Epilepsia Tipo de estudio: Risk_factors_studies Límite: Child / Female / Humans Idioma: En Revista: Brain Dev Año: 2022 Tipo del documento: Article País de afiliación: Italia
Texto completo
Añadir a Mi BVS
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Rett / Distonía / Epilepsia Tipo de estudio: Risk_factors_studies Límite: Child / Female / Humans Idioma: En Revista: Brain Dev Año: 2022 Tipo del documento: Article País de afiliación: Italia