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2. Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders. Tan CA; Westbrook MJ; Truty R; Kvitek DJ; Kennemer M; Winder TL; Shieh PB Genet Test Mol Biomarkers; 2020 Oct; 24(10):616-624. PubMed ID: 32721234 [No Abstract] [Full Text] [Related]
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4. Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort. Kleinle S; Scholz V; Benet-Pagés A; Wohlfrom T; Gehling S; Scharf F; Rost S; Prott EC; Grinzinger S; Hotter A; Haug V; Niemeier S; Wiethoff-Ubrig L; Hagenacker T; Goldhahn K; von Moers A; Walter MC; Reilich P; Eggermann K; Kraft F; Kurth I; Erdmann H; Holinski-Feder E; Neuhann T; Abicht A J Neuromuscul Dis; 2023; 10(5):835-846. PubMed ID: 37424474 [TBL] [Abstract][Full Text] [Related]
5. Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran. Sharifi Z; Taheri M; Fallah MS; Abiri M; Golnabi F; Bagherian H; Zeinali R; Farahzadi H; Alborji M; Tehrani PG; Amini M; Asnavandi S; Hashemi M; Forouzesh F; Zeinali S J Mol Neurosci; 2021 Nov; 71(11):2281-2298. PubMed ID: 33481221 [TBL] [Abstract][Full Text] [Related]
7. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. Ghaoui R; Cooper ST; Lek M; Jones K; Corbett A; Reddel SW; Needham M; Liang C; Waddell LB; Nicholson G; O'Grady G; Kaur S; Ong R; Davis M; Sue CM; Laing NG; North KN; MacArthur DG; Clarke NF JAMA Neurol; 2015 Dec; 72(12):1424-32. PubMed ID: 26436962 [TBL] [Abstract][Full Text] [Related]
9. Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR. Yao M; Jiang L; Yu Y; Cui Y; Chen Y; Zhou D; Gao F; Mao S BMC Neurol; 2024 Mar; 24(1):93. PubMed ID: 38468256 [TBL] [Abstract][Full Text] [Related]
10. Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases. Butchbach ME Front Mol Biosci; 2016; 3():7. PubMed ID: 27014701 [TBL] [Abstract][Full Text] [Related]
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12. Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing. Theuriet J; Fernandez-Eulate G; Latour P; Stojkovic T; Masingue M; Vidoni L; Bernard E; Jacquier A; Schaeffer L; Salort-Campana E; Chanson JB; Pakleza AN; Kaminsky AL; Svahn J; Manel V; Bouhour F; Pegat A Eur J Hum Genet; 2024 Jan; 32(1):37-43. PubMed ID: 37337091 [TBL] [Abstract][Full Text] [Related]
13. Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy. Xia Y; Feng Y; Xu L; Chen X; Gao F; Mao S Front Genet; 2021; 12():605611. PubMed ID: 33777091 [TBL] [Abstract][Full Text] [Related]
14. Survival Motor Neuron Gene Copy Number Analysis by Exome Sequencing: Assisting Spinal Muscular Atrophy Diagnosis and Carrier Screening. Liu B; Lu Y; Wu B; Yang L; Liu R; Wang H; Dong X; Li G; Qin Q; Zhou W J Mol Diagn; 2020 May; 22(5):619-628. PubMed ID: 32092542 [TBL] [Abstract][Full Text] [Related]
15. Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Marchant RG; Bryen SJ; Bahlo M; Cairns A; Chao KR; Corbett A; Davis MR; Ganesh VS; Ghaoui R; Jones KJ; Kornberg AJ; Lek M; Liang C; MacArthur DG; Oates EC; O'Donnell-Luria A; O'Grady GL; Osei-Owusu IA; Rafehi H; Reddel SW; Roxburgh RH; Ryan MM; Sandaradura SA; Scott LW; Valkanas E; Weisburd B; Young H; Evesson FJ; Waddell LB; Cooper ST Ann Clin Transl Neurol; 2024 May; 11(5):1250-1266. PubMed ID: 38544359 [TBL] [Abstract][Full Text] [Related]
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