Alías L, Bernal S, Barceló MJ, et al. 2011 Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy. Genet. Test. Mol. Biomarkers 15 587–594
Alías L, Bernal S, Calucho M, et al. 2018 Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling. Eur. J. Hum. Genet. 26 1554–3557
Article PubMed PubMed Central Google Scholar
Anhuf D, Eggermann T, Rudnik-Schöneborn S, et al. 2003 Determination of SMN1 and SMN2 copy number using TaqMan technology. Hum. Mutat. 22 74–78
Article PubMed CAS Google Scholar
Arkblad EL, Darin N, Berg K, et al. 2006 Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul. Disord. 16 830–838
Arslan D, Inan B, Kilinc M, et al. 2023 Nusinersen for adults with spinal muscular atrophy. Neurol. Sci. 44 2393–2400
Azad AK, Huang CK, Jin H, et al. 2020 Enhanced carrier screening for spinal muscular atrophy: detection of silent (SMN1: 2 + 0) carriers utilizing a novel TaqMan genotyping method. Lab. Med. 51 408–415
Bajaj A, Mathew S, Vellarikkal SK, et al. 2019 Genomics of rare genetic diseases—experiences from India. Hum. Genomics 13 52
Baranello G, Darras BT, Day JW, et al. 2021 Risdiplam in Type 1 Spinal Muscular Atrophy. N. Engl. J. Med. 384 915–923
Article PubMed CAS Google Scholar
Ben-Shachar S, Orr-Urtreger A, Bardugo E, et al. 2011 Large-scale population screening for spinal muscular atrophy: clinical implications. Genet. Med. 13 110–114
Blasco-Pérez L, Paramonov I, Leno J, et al. 2021 Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients. Hum. Mutat. 42 787–795
Article PubMed PubMed Central Google Scholar
Bose M, Parab SD, Patil SM, et al. 2019 Exploring spinal muscular atrophy and its impact on functional status: Indian scenario. Indian. J. Public. Health 63 254–257
Brzustowicz LM, Lehner T, Castilla LH, et al. 1990 Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2–33.3. Nature 344 540–541
Article ADS PubMed CAS Google Scholar
Burghes AH 1997 When is a deletion not a deletion? When it is converted. Am. J. Hum. Genet. 61 9–15
Article PubMed PubMed Central CAS Google Scholar
Burghes AH and Beattie CE 2009 Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat. Rev. Neurosci. 10 597–609
Article PubMed PubMed Central CAS Google Scholar
Burnett BG, Muñoz E, Tandon A, et al. 2009 Regulation of SMN protein stability. Mol. Cell. Biol. 29 1107–1115
Article PubMed CAS Google Scholar
Burr P and Reddivari AKR 2022 Spinal muscle atrophy. In StatPearls; StatPearls Publishing: Treasure Island, FL, USA
Butchbach MER 2021 Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development. Int. J. Mol. Sci. 22 7896
Calucho M, Bernal S, Alías L, et al. 2018 Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul. Disord. 28 208–215
Cancès C, Richelme C, Barnerias C, et al. 2020 Clinical features of spinal muscular atrophy (SMA) type 2. Arch. Pediatr. 27 7S18–7S22
Cartegni L and Krainer AR 2002 Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat. Genet. 30 377–384
Article PubMed CAS Google Scholar
Cartegni L, Hastings ML, Calarco JA, et al. 2006 Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am. J. Hum. Genet. 78 63–77
Article PubMed CAS Google Scholar
Ceylan AC, Erdem HB, Sahin I, et al. 2020 SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the “2+0” genotype. Neurol. Sci. 41 2575–2584
Chen X, Sanchis-Juan A, French CE, et al. 2020 Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet. Med. 22 945–953
Article PubMed PubMed Central CAS Google Scholar
Chencheri N, Alexander G, Nugud A, et al. 2023 Gene transfer therapy in children with spinal muscular atrophy: A single-center experience with a cohort of 25 children. Muscle Nerve 68 269–277
Article PubMed CAS Google Scholar
Chiriboga CA, Swoboda KJ, Darras BT, et al. 2016 Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy. Neurology 86 890–897
Article PubMed PubMed Central CAS Google Scholar
Chiriboga C, Mercuri E, Fischer D, et al. 2019 P.363JEWELFISH: safety and pharmacodynamic data in patients with spinal muscular atrophy (SMA) receiving treatment with risdiplam (RG7916) that have previously been treated with nusinersen. Neuromuscul. Disord. 29 S187
Chiriboga CA, Bruno C, Duong T, et al. 2023 Risdiplam in patients previously treated with other therapies for spinal muscular atrophy: An interim analysis from the Jewelfish study. Neurol. Ther. 12 543–557
Article PubMed PubMed Central Google Scholar
Cho S and Dreyfuss G 2010 A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. Genes. Dev. 24 438–442
Article PubMed PubMed Central CAS Google Scholar
Collén A, Bergenhem N, Carlsson L, et al. 2022 VEGFA mRNA for regenerative treatment of heart failure. Nat. Rev. Drug. Discov. 21 79–80
Costa-Roger M, Blasco-Pérez L, Cuscó I, et al. 2021 The importance of digging into the genetics of SMN genes in the therapeutic scenario of spinal muscular atrophy. Int. J. Mol. Sci. 22 9029
Crawford TO, Paushkin SV, Kobayashi DT, et al. 2012 Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. PLoS One 7 e33572
Article ADS PubMed PubMed Central CAS Google Scholar
Dangouloff T, Vrščaj E, Servais L, et al. 2021 Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go. Neuromuscul. Disord. 31 574–582
Darras BT, Masson R, Mazurkiewicz-Bełdzińska M, et al. 2021 Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls. N. Engl. J. Med. 385 427–435
Article PubMed CAS Google Scholar
Darras B, Baranello G, Boespflug-Tanguy O, et al. 2023 FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy (SMA) (P7–3.009). Neurology 100 3928
Day JW, Finkel RS, Chiriboga CA, et al. 2021 Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. Lancet Neurol. 20 284–293
Article PubMed CAS Google Scholar
DiDonato CJ, Chen XN, Noya D, et al. 1997a Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene. Genome Res. 7 339–352
Article PubMed CAS Google Scholar
DiDonato CJ, Ingraham SE, Mendell JR, et al. 1997b Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity? Ann. Neurol. 41 230–237
Article PubMed CAS Google Scholar
Dobnik D, Štebih D, Blejec A, et al. 2016 Multiplex quantification of four DNA targets in one reaction with Bio-Rad droplet digital PCR system for GMO detection. Sci. Rep. 6 35451
Article ADS PubMed PubMed Central CAS Google Scholar
Duong T, Wolford C, McDermott MP, et al. 2021 Nusinersen treatment in adults with spinal muscular atrophy. Neurol. Clin. Pract. 11 e317–e327
Article PubMed PubMed Central Google Scholar
Eggermann K, Gläser D, Abicht A, et al. 2020 Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy. Med. Genet. 32 263–272
Elsheikh B, Prior T, Zhang X, et al. 2009 An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy. Muscle Nerve 40 652–656
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