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Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.

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第一作者: Jennifer F,Gardner
第一单位: Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK. jennifer.gardner@wales.nhs.uk.
作者单位: Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK. jennifer.gardner@wales.nhs.uk. [1] Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK. cushiont@cardiff.ac.uk. [2] Paediatrics Department, Venizelion Hospital, Knossos Ave, P.O. Box 44, Heraklion, 714 09 Crete, Greece. niotakisg@yahoo.gr. [3] Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA. heather.olson@childrens.harvard.edu. [4] Fetal-Neonatal Neuroimaging and Developmental Science Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. ellen.grant@childrens.harvard.edu. [5] Clinical Genetics Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK. richard.scott@genomicsengland.co.uk. [6] Department of Neuroradiology, North Bristol NHS Trust, Frenchay Hospital, Bristol BS16 1LE, UK. neilstoodley@doctors.org.uk. [7] Division of Neurogenetics, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA. cohenju@kennedykrieger.org. [8] Division of Neurogenetics, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA. naidu@kennedykrieger.org.;Department of Neurology, The Johns Hopkins Hospital, Baltimore, Maryland, MD 21287, USA. naidu@kennedykrieger.org.;Department of Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, MD 21287, USA. naidu@kennedykrieger.org. [9] Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), 75004 Paris, France. tania.attie@inserm.fr.;Institut Imagine, INSERM U1163, Université Paris Descartes, Sorbonne Paris Cite, 75006 Paris, France. tania.attie@inserm.fr. [10] Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), 75004 Paris, France. maryse.bonniere-darcy@aphp.fr. [11] Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), 75004 Paris, France. lucile.boutaud@gmail.com.;Institut Imagine, INSERM U1163, Université Paris Descartes, Sorbonne Paris Cite, 75006 Paris, France. lucile.boutaud@gmail.com. [12] Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), 75004 Paris, France. ferechte.razavi@aphp.fr. [13] Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK. sheila.palmer-smith@wales.nhs.uk. [14] Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK. hood.mugalaasi@wales.nhs.uk. [15] Institute of Life Science, Swansea University Medical School, Swansea SA2 8PP, UK. j.g.l.mullins@swansea.ac.uk. [16] Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK. pilzdt@cardiff.ac.uk.;Department of Clinical Genetics, West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK. pilzdt@cardiff.ac.uk. [17] Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK. fryae@cardiff.ac.uk.;Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK. fryae@cardiff.ac.uk. [18]
DOI 10.3390/brainsci8080145
PMID 30087272
发布时间 2020-10-01
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