Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

Author:

Zaki Maha1,Abdel-Hamid Mohamed2,Abdel-Salam Ghada1,Boespflug-Tanguy Odile3,Cordeiro Nuno4,Gleeson Joseph5,Gowrinathan Nirmala6,Laugel Vincent7,Renaldo Florence8,Rodriguez Diana9,Livingston John10,Rice Gillian11,Crow Yanick12

Affiliation:

1. Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Center, Cairo, Egypt

2. Division of Human Genetics and Genome Research, Department of Medical Genetics, National Research Center, Cairo, Egypt

3. National Reference Center for Rare Diseases “leukodystrophies,” INSERM U676, Université Paris Diderot, Sorbonne Paris Cité Université, Paris, France

4. Department of Paediatrics, Rainbow House NHS Ayrshire & Arran, Irvine, Scotland, United Kingdom

5. Department of Neurosciences, University of California, San Diego, La Jolla, California, United States

6. Kaiser Permanente Los Angeles Medical Center, Los Angeles, California, United States

7. Pediatric Neurology, Strasbourg–Hautepierre University Hospital, Avenue Moliere, Strasbourg, France

8. Centre de Référence des Leucodystrophies, Service de Neuropédiatrie et Maladies Métaboliques; Hôpital Robert Debré, AP-HP, Paris, France

9. Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France

10. Department of Paediatric Neurology, F Floor Martin Wing, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom

11. Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, United Kingdom

12. INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France

Publisher

Georg Thieme Verlag KG

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

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