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Page 1
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient.
Dowling JJ, Pirovolakis T, Devakandan K, Stosic A, Pidsadny M, Nigro E, Sahin M, Ebrahimi-Fakhari D, Messahel S, Varadarajan G, Greenberg BM, Chen X, Minassian BA, Cohn R, Bonnemann CG, Gray SJ. Dowling JJ, et al. Among authors: messahel s. Nat Med. 2024 Jul;30(7):1882-1887. doi: 10.1038/s41591-024-03078-4. Epub 2024 Jun 28. Nat Med. 2024. PMID: 38942994 Free PMC article. Clinical Trial.
Natural History of SURF1 Deficiency: A Retrospective Chart Review.
Khan TR, Leprince I, Messahel S, Minassian BA, Kayani S. Khan TR, et al. Among authors: messahel s. Pediatr Neurol. 2023 Mar;140:40-46. doi: 10.1016/j.pediatrneurol.2022.12.002. Epub 2022 Dec 7. Pediatr Neurol. 2023. PMID: 36599233
Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills.
Kayani S, Edgar VB, Lowden A, Nettesheim ER, Dahshi H, Messahel S, Minassian BA, Greenberg BM. Kayani S, et al. Among authors: messahel s. Res Sq [Preprint]. 2024 Jun 26:rs.3.rs-3983366. doi: 10.21203/rs.3.rs-3983366/v1. Res Sq. 2024. PMID: 38978590 Free PMC article. Preprint.
ECHS1 deficiency and its biochemical and clinical phenotype.
Ozlu C, Chelliah P, Dahshi H, Horton D, Edgar VB, Messahel S, Kayani S. Ozlu C, et al. Among authors: messahel s. Am J Med Genet A. 2022 Oct;188(10):2908-2919. doi: 10.1002/ajmg.a.62895. Epub 2022 Jul 20. Am J Med Genet A. 2022. PMID: 35856138
Leigh syndrome global patient registry: uniting patients and researchers worldwide.
Zilber S, Woleben K, Johnson SC, de Souza CFM, Boyce D, Freiert K, Boggs C, Messahel S, Burnworth MJ, Afolabi TM, Kayani S. Zilber S, et al. Among authors: messahel s. Orphanet J Rare Dis. 2023 Sep 4;18(1):264. doi: 10.1186/s13023-023-02886-0. Orphanet J Rare Dis. 2023. PMID: 37667390 Free PMC article.
Infographic: Cost-effectiveness analysis of soft bandage and immediate discharge versus rigid immobilization in children with distal radius torus fractures.
Perry DC, Dritsaki M, Achten J, Appelbe D, Knight R, Widnall J, Roland D, Messahel S, Costa ML, Mason J; FORCE Collaborators in association with PERUKI; FORCE COLLABORATORS IN ASSOCIATION WITH PERUKI; Ahmad R, Alcock A, Appelboam A, Armour L, Bayreuther J, Beynon R, Brown C, Cadman E, Conner L, Darlow N, Davis T, Gibson P, Gilhooley C, Gomes S, Gough C, Hartin D, Hartshorn S, Hussan T, Jain N, Jenkinson E, Johnson G, Kehler L, Long M, Lyttle M, Manouchehri S, McKie C, Metcalfe D, Monsell F, Morgans L, Mullen N, Nicolaou N, Novak A, Nunn C, O'Hagan K, Paul A, Preston J, Ramlakhan S, Somaskanthan A, Tan YW, Thakker M, Vemulapalli K, Weekes J, Westacott D, Wilson S, Wood D. Perry DC, et al. Among authors: messahel s. Bone Joint J. 2024 Jun 1;106-B(6):631. doi: 10.1302/0301-620X.106B6.BJJ-2024-00045. Bone Joint J. 2024. PMID: 38821511 No abstract available.
49 results