Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.

Autor: Yahia A; Faculty of Medicine, University of Khartoum, Khartoum, Sudan. ashraf.yahia@ki.se.; Paris Brain Institute - ICM, CNRS UMR7225, INSERM 1127, Sorbonne University, F-75000, Paris, France. ashraf.yahia@ki.se.; Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet and Stockholm Health Care Services, Region Stockholm, Stockholm, Sweden. ashraf.yahia@ki.se.; Astrid Lindgren Children's Hospital, Karolinska University Hospital, Solna, Sweden. ashraf.yahia@ki.se., Hamed AAA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Mohamed IN; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elseed MA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Salih MA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; College of Medicine, AlMughtaribeen University, Khartoum, Sudan., El-Sadig SM; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Siddig HE; Division of Neurology, Sudan Medical Council, Khartoum, Sudan., Nasreldien AEM; Pediatric Neurology Department, Red Cross Memorial Children Hospital (RCWMCH), University of Cape Town (UCT), Cape Town, South Africa., Abdullah MA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elzubair M; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Omer FY; Faculty of Medicine, Omdurman Islamic University, Khartoum, Sudan., Bakhiet AM; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Abubaker R; Sudanese Neurogenetics Research group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; National University Biomedical Research Institute, National University, Khartoum, Sudan., Abozar F; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Adil R; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Emad S; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Musallam MA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Eltazi IZM; Neurology Department, Hamad Medical Corporation, Doha, Qatar., Omer Z; Department of Hematology and Medical Oncology, University of Cincinnati Medical Center, Ohio, USA., Malik H; Department of Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK., Mohamed MOE; Division of Emergency Medicine, Sudan Medical Specialization Board, Khartoum, Sudan., Elhassan AA; Sudan Neuroscience Projects, University of Khartoum, Khartoum, Sudan., Mohamed EOE; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Ahmed AKMA; Department of Molecular Neuroscience, Graduate school of Medicine, Osaka University, 2-2, Yamadaoka, Suita, Osaka, 565-0871, Japan.; WPI Immunology Frontier Research Center, Osaka University, 3-1, Yamadaoka, Suita, Osaka, 565-0871, Japan., Ahmed EAA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Eltaraifee E; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Hussein BK; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Abd Allah ASI; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Salah L; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Nimir M; Department of Pathology, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK.; Warwick Medical School, University of Warwick, Coventry, UK.; Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, UK., Tag Elseed OM; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elhassan TEA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elbashier A; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Alfadul ESA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Fadul M; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Ali KF; Department of Cardiology, Royal Derby Hospital, Derby, UK., Taha SOMA; Department of Radiology, Universal Hospital, Khartoum, Sudan., Bushara EE; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Amin M; Department of Biochemistry and Molecular Biology, Faculty of Medicine, Al-Neelain University, Khartoum, Sudan., Koko M; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Ibrahim ME; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Ahmed AE; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elsayed LEO; Department of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, P.O.Box 84428, Riyadh, 11671, Saudi Arabia., Stevanin G; Paris Brain Institute - ICM, CNRS UMR7225, INSERM 1127, Sorbonne University, F-75000, Paris, France. giovanni-b.stevanin@inserm.fr.; Univ. Bordeaux, CNRS, INCIA, UMR 5287, F-33000, Bordeaux, France. giovanni-b.stevanin@inserm.fr.; EPHE, PSL Research university, CNRS, INCIA, UMR 5287, F-75000, Paris, France. giovanni-b.stevanin@inserm.fr.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Oct; Vol. 32 (10), pp. 1214-1226. Date of Electronic Publication: 2023 Apr 03.

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.

Autor: Yahia A; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan.; Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités UMR_S1127, 75013, Paris, France., Elsayed L; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan. doctorlbo@hotmail.com., Babai A; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Salih MA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., El-Sadig SM; Department of Medicine, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Neurology, Soba University Hospital, Khartoum, Sudan., Amin M; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Koko M; Department of Neurology & Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Abubakr R; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Idris R; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Taha SOMA; Department of Radiology, Dar Al Elaj specialized hospital, Khartoum, Sudan., Elmalik SA; Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Brice A; Department of Genetics, APHP, Pitié-Salpêtrière Hospital, Paris, France.; Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités UMR_S1127, 75013, Paris, France., Ahmed AE; Department of Physiology, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Neurology, Soba University Hospital, Khartoum, Sudan., Stevanin G; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France.; Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités UMR_S1127, 75013, Paris, France.

Publikováno v: BMC neurology [BMC Neurol] 2018 Oct 23; Vol. 18 (1), pp. 175. Date of Electronic Publication: 2018 Oct 23.