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Gene therapy for spinal muscular atrophy: the Qatari experience.

Autor: Ali HG; Department of Pharmacy, Hamad Medical Corporation, Doha, Qatar., Ibrahim K; Department of Pediatrics, Sidra Medicine, Doha, Qatar.; Weill Cornell Medical College, Doha, Qatar., Elsaid MF; Department of Pediatrics, Sidra Medicine, Doha, Qatar.; Weill Cornell Medical College, Doha, Qatar., Mohamed RB; Qatar Rehabilitation Institute, Hamad Medical Corporation, Doha, Qatar.; Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar., Abeidah MIA; Qatar Rehabilitation Institute, Hamad Medical Corporation, Doha, Qatar.; Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar., Al Rawwas AO; Qatar Rehabilitation Institute, Hamad Medical Corporation, Doha, Qatar.; Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar., Elshafey K; Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar., Almulla H; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar., El-Akouri K; Department of Pediatrics, Sidra Medicine, Doha, Qatar.; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar., Almulla M; Department of Pediatrics, Sidra Medicine, Doha, Qatar.; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar., Othman A; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar., Musa S; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar., Al-Mesaifri F; Department of Pediatrics, Sidra Medicine, Doha, Qatar.; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar., Ali R; Department of Pediatrics, Sidra Medicine, Doha, Qatar.; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar.; Center of Rare Disease, Hamad Medical Corporation, Doha, Qatar., Shahbeck N; Department of Pediatrics, Sidra Medicine, Doha, Qatar.; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar., Al-Mureikhi M; Department of Pediatrics, Sidra Medicine, Doha, Qatar.; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar., Alsulaiman R; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar.; Center of Rare Disease, Hamad Medical Corporation, Doha, Qatar., Alkaabi S; Center of Rare Disease, Hamad Medical Corporation, Doha, Qatar., Ben-Omran T; Department of Pediatrics, Sidra Medicine, Doha, Qatar. tawben11@hotmail.com.; Weill Cornell Medical College, Doha, Qatar. tawben11@hotmail.com.; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar. tawben11@hotmail.com.; Center of Rare Disease, Hamad Medical Corporation, Doha, Qatar. tawben11@hotmail.com.

Publikováno v: Gene therapy [Gene Ther] 2021 Nov; Vol. 28 (10-11), pp. 676-680. Date of Electronic Publication: 2021 Jul 19.

Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.

Autor: Abdel Aleem A; Departments of Neurology, Weill Cornell Medicine Qatar, Education City, P.O. 24144, Doha, Qatar; Departments of Center for Neurogenetics, Brain and Mind Research Institute, Weill Cornell Medicine, NY, USA. Electronic address: aka2005@qatar-med.cornell.edu., Elsaid MF; Departments of Neuropediatric, Hamad Medical Corporation and Sidra Medicine, Doha, Qatar., Chalhoub N; Departments of Center for Neurogenetics, Brain and Mind Research Institute, Weill Cornell Medicine, NY, USA., Chakroun A; Departments of Center for Neurogenetics, Brain and Mind Research Institute, Weill Cornell Medicine, NY, USA., Mohamed KAS; Departments of Neuropediatric, Hamad Medical Corporation and Sidra Medicine, Doha, Qatar., AlShami R; Departments of Neuropediatric, Hamad Medical Corporation and Sidra Medicine, Doha, Qatar., Kuzu O; Departments of Center for Neurogenetics, Brain and Mind Research Institute, Weill Cornell Medicine, NY, USA., Mohamed RB; Departments of Pediatric, Hamad Medical Corporation and Sidra Medicine, Doha, Qatar., Ibrahim K; Departments of Neuropediatric, Hamad Medical Corporation and Sidra Medicine, Doha, Qatar., AlMudheki N; Departments of Physiotherapy, Hamad Medical Corporation, Doha, Qatar., Osman O; Department of Radiology, Hamad Medical Corporation, Doha, Qatar., Ross ME; Departments of Center for Neurogenetics, Brain and Mind Research Institute, Weill Cornell Medicine, NY, USA., ELalamy O; Department of Adult Neurology, Hamad Medical Corporation, Doha, Qatar.

Publikováno v: Neuromuscular disorders : NMD [Neuromuscul Disord] 2020 Jun; Vol. 30 (6), pp. 457-471. Date of Electronic Publication: 2020 Apr 17.

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Autor: Lakhani S; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar., Doan R; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, 02115, USA., Almureikhi M; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar., Partlow JN; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA., Al Saffar M; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, 02115, USA; Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates., Elsaid MF; Section of Neurology, Department of Pediatrics, Hamad Medical Corporation, Qatar., Alaaraj N; Section of Children Development and Rehabilitation, Department of Pediatrics, Hamad Medical Corporation, Qatar., James Barkovich A; Pediatric Neuroradiology, Department of Neuroradiology, University of California, San Francisco, San Francisco, CA, 94143, USA., Walsh CA; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA; Harvard Medical School, Boston, MA, 02115, USA., Ben-Omran T; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar. Electronic address: tawben11@hotmail.com.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2017 May; Vol. 60 (5), pp. 245-249. Date of Electronic Publication: 2017 Feb 27.