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For: Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, Cook SF, Lochmüller H. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis 2017;12:124. [PMID: 28676062 DOI: 10.1186/s13023-017-0671-8] [Cited by in Crossref: 162] [Cited by in F6Publishing: 146] [Article Influence: 32.4] [Reference Citation Analysis]
Number Citing Articles
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2 Edinoff AN, Nguyen LH, Odisho AS, Maxey BS, Pruitt JW, Girma B, Cornett EM, Kaye AM, Kaye AD. The Antisense Oligonucleotide Nusinersen for Treatment of Spinal Muscular Atrophy. Orthop Rev (Pavia) 2021;13:24934. [PMID: 34745470 DOI: 10.52965/001c.24934] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
3 Niba ETE, Nishio H, Wijaya YOS, Ar Rochmah M, Takarada T, Takeuchi A, Kimizu T, Okamoto K, Saito T, Awano H, Takeshima Y, Shinohara M. Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy. Genes (Basel) 2022;13:205. [PMID: 35205250 DOI: 10.3390/genes13020205] [Reference Citation Analysis]
4 Tran DK, Shah V, Muhonen MG. Intrathecal Access Through Suboccipital Port in Patients With Spinal Muscular Atrophy and Complex Spines: Case Series and Technical Note. Cureus 2020;12:e9525. [PMID: 32905153 DOI: 10.7759/cureus.9525] [Reference Citation Analysis]
5 Kay DM, Stevens CF, Parker A, Saavedra-Matiz CA, Sack V, Chung WK, Chiriboga CA, Engelstad K, Laureta E, Farooq O, Ciafaloni E, Lee BH, Malek S, Treidler S, Anziska Y, Delfiner L, Sakonju A, Caggana M. Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. Genet Med 2020;22:1296-302. [PMID: 32418989 DOI: 10.1038/s41436-020-0824-3] [Cited by in Crossref: 18] [Cited by in F6Publishing: 13] [Article Influence: 9.0] [Reference Citation Analysis]
6 Wurster CD, Ludolph AC. Antisense oligonucleotides in neurological disorders. Ther Adv Neurol Disord 2018;11:1756286418776932. [PMID: 29854003 DOI: 10.1177/1756286418776932] [Cited by in Crossref: 60] [Cited by in F6Publishing: 56] [Article Influence: 15.0] [Reference Citation Analysis]
7 Mix L, Schreiber-Katz O, Wurster CD, Uzelac Z, Platen S, Gipperich C, Ranxha G, Wieselmann G, Osmanovic A, Ludolph AC, Petri S, Lulé D. Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA). Orphanet J Rare Dis 2021;16:10. [PMID: 33407722 DOI: 10.1186/s13023-020-01661-9] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
8 Tosolini AP, Sleigh JN. Motor Neuron Gene Therapy: Lessons from Spinal Muscular Atrophy for Amyotrophic Lateral Sclerosis. Front Mol Neurosci 2017;10:405. [PMID: 29270111 DOI: 10.3389/fnmol.2017.00405] [Cited by in Crossref: 24] [Cited by in F6Publishing: 21] [Article Influence: 4.8] [Reference Citation Analysis]
9 Aoki Y, Wood MJA. Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases. J Neuromuscul Dis 2021. [PMID: 34092651 DOI: 10.3233/JND-200560] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
10 Verma IC, Kohli S, Shenbagam S, Bijarnia-Mahay S, DuaPuri R, Saxena R. Carrier screening of spinal muscular atrophy in North Indian population and its public health implications. Clin Genet 2020;98:198-9. [PMID: 32666593 DOI: 10.1111/cge.13796] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
11 Jablonka S, Hennlein L, Sendtner M. Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders. Neurol Res Pract 2022;4:2. [PMID: 34983696 DOI: 10.1186/s42466-021-00162-9] [Reference Citation Analysis]
12 Lucas HM, Sarumi MA. Case report of pregnancy management and genetic evaluation after negative carrier screening for spinal muscular atrophy in an affected family. Case Rep Womens Health 2022;33:e00377. [PMID: 35004188 DOI: 10.1016/j.crwh.2021.e00377] [Reference Citation Analysis]
13 Mirea A, Shelby ES, Axente M, Badina M, Padure L, Leanca M, Dima V, Sporea C. Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I. J Clin Med 2021;10:5540. [PMID: 34884240 DOI: 10.3390/jcm10235540] [Reference Citation Analysis]
14 Hahn A, Günther R, Ludolph A, Schwartz O, Trollmann R, Weydt P, Weiler M, Neuland K, Schwaderer MS, Hagenacker T; Risdiplam Compassionate Use Program Group. Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany. Orphanet J Rare Dis 2022;17:276. [PMID: 35854272 DOI: 10.1186/s13023-022-02420-8] [Reference Citation Analysis]
15 Roth JD, Pariser JJ, Stout TE, Misseri R, Elliott SP. Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases. Urology 2020;135:165-70. [PMID: 31626855 DOI: 10.1016/j.urology.2019.09.039] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
16 Dangouloff T, Boemer F, Servais L. Newborn screening of neuromuscular diseases. Neuromuscul Disord 2021;31:1070-80. [PMID: 34620514 DOI: 10.1016/j.nmd.2021.07.008] [Reference Citation Analysis]
17 Blonda A, Barcina Lacosta T, Toumi M, Simoens S. Assessing the Value of Nusinersen for Spinal Muscular Atrophy: A Comparative Analysis of Reimbursement Submission and Appraisal in European Countries. Front Pharmacol 2021;12:750742. [PMID: 35126102 DOI: 10.3389/fphar.2021.750742] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
18 De Amicis R, Baranello G, Foppiani A, Leone A, Battezzati A, Bedogni G, Ravella S, Giaquinto E, Mastella C, Agosto C, Bertini E, D'Amico A, Pedemonte M, Bruno C, Wells JC, Fewtrell M, Bertoli S. Growth patterns in children with spinal muscular atrophy. Orphanet J Rare Dis 2021;16:375. [PMID: 34481516 DOI: 10.1186/s13023-021-02015-9] [Reference Citation Analysis]
19 Stagnaro-Green A, Dong A, Stephenson MD. Universal screening for thyroid disease during pregnancy should be performed. Best Pract Res Clin Endocrinol Metab 2020;34:101320. [PMID: 31530447 DOI: 10.1016/j.beem.2019.101320] [Cited by in Crossref: 5] [Cited by in F6Publishing: 1] [Article Influence: 1.7] [Reference Citation Analysis]
20 Feldman AG, Parsons JA, Dutmer CM, Veerapandiyan A, Hafberg E, Maloney N, Mack CL. Subacute Liver Failure Following Gene Replacement Therapy for Spinal Muscular Atrophy Type 1. J Pediatr 2020;225:252-258.e1. [PMID: 32473148 DOI: 10.1016/j.jpeds.2020.05.044] [Cited by in Crossref: 20] [Cited by in F6Publishing: 20] [Article Influence: 10.0] [Reference Citation Analysis]
21 Brandsema JF, Gross BN, Matesanz SE. Diagnostic Testing for Patients with Spinal Muscular Atrophy. Clin Lab Med 2020;40:357-67. [PMID: 32718505 DOI: 10.1016/j.cll.2020.05.005] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
22 Aksaralikitsunti M, Sanmaneechai O. Health-related quality of life in Thai children with spinal muscular atrophy. Pediatr Neonatol 2022;63:291-7. [PMID: 35379591 DOI: 10.1016/j.pedneo.2022.01.002] [Reference Citation Analysis]
23 Aharoni S, Nevo Y, Orenstein N, Basel-Salmon L, Ben-Shachar S, Mussaffi H, Sagi-Dain L, Cohen R, Singer A. Impact of a national population-based carrier-screening program on spinal muscular atrophy births. Neuromuscul Disord 2020;30:970-4. [PMID: 33218846 DOI: 10.1016/j.nmd.2020.10.005] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
24 Al-Zaidy S, Pickard AS, Kotha K, Alfano LN, Lowes L, Paul G, Church K, Lehman K, Sproule DM, Dabbous O, Maru B, Berry K, Arnold WD, Kissel JT, Mendell JR, Shell R. Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy. Pediatr Pulmonol 2019;54:179-85. [PMID: 30548438 DOI: 10.1002/ppul.24203] [Cited by in Crossref: 75] [Cited by in F6Publishing: 62] [Article Influence: 18.8] [Reference Citation Analysis]
25 Bonanno S, Zanin R, Bello L, Tramacere I, Bozzoni V, Caumo L, Ferraro M, Bortolani S, Sorarù G, Silvestrini M, Vacchiano V, Turri M, Tanel R, Liguori R, Coccia M, Mantegazza RE, Mongini T, Pegoraro E, Maggi L. Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen. J Neurol 2022. [PMID: 34978620 DOI: 10.1007/s00415-021-10954-3] [Reference Citation Analysis]
26 Connock M, Andronis L, Auguste P, Dussart C, Armoiry X. Will the US$5 million onasemnogene abeparvosec treatment for spinal muscular atrophy represent 'value for money' for the NHS? A rapid inquiry into suggestions that it may be cost-effective. Expert Opin Biol Ther 2020;20:823-7. [PMID: 32434404 DOI: 10.1080/14712598.2020.1772747] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
27 de Carlos Cáceres I, Porto DA, Gallotta I, Santonicola P, Rodríguez-Cordero J, Di Schiavi E, Lu H. Automated screening of C. elegans neurodegeneration mutants enabled by microfluidics and image analysis algorithms. Integr Biol (Camb) 2018;10:539-48. [PMID: 30116818 DOI: 10.1039/c8ib00091c] [Cited by in Crossref: 11] [Cited by in F6Publishing: 4] [Article Influence: 3.7] [Reference Citation Analysis]
28 Kamusheva MS, Dimitrova MJ. Clinical and economic assessment of nusinersen: the Bulgarian perspective. Expert Opinion on Orphan Drugs 2020;8:403-15. [DOI: 10.1080/21678707.2020.1835641] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
29 Alfano LN, Miller NF, Iammarino MA, Moore Clingenpeel M, Lowes SL, Dugan ME, Kissel JT, Al Zaidy S, Tsao C, Lowes LP. ACTIVE (Ability Captured Through Interactive Video Evaluation) workspace volume video game to quantify meaningful change in spinal muscular atrophy. Dev Med Child Neurol 2020;62:303-9. [DOI: 10.1111/dmcn.14230] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
30 Kiefer P, Kirschner J, Pechmann A, Langer T. Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study. Orphanet J Rare Dis 2020;15:194. [PMID: 32727502 DOI: 10.1186/s13023-020-01477-7] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
31 Zhang J, Cui X, Chen S, Dai Y, Huang Y, Zhang S. Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study. Orphanet J Rare Dis 2021;16:274. [PMID: 34120632 DOI: 10.1186/s13023-021-01903-4] [Reference Citation Analysis]
32 Rashnonejad A, Amini Chermahini G, Gündüz C, Onay H, Aykut A, Durmaz B, Baka M, Su Q, Gao G, Özkınay F. Fetal Gene Therapy Using a Single Injection of Recombinant AAV9 Rescued SMA Phenotype in Mice. Mol Ther 2019;27:2123-33. [PMID: 31543414 DOI: 10.1016/j.ymthe.2019.08.017] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
33 Belter L, Jarecki J, Reyna SP, Cruz R, Jones CC, Schroth M, O'Toole CM, O'Brien S, Hall SA, Johnson NB, Paradis AD. The Cure SMA Membership Surveys: Highlights of Key Demographic and Clinical Characteristics of Individuals with Spinal Muscular Atrophy. J Neuromuscul Dis 2021;8:109-23. [PMID: 33104036 DOI: 10.3233/JND-200563] [Reference Citation Analysis]
34 Bizot F, Vulin A, Goyenvalle A. Current Status of Antisense Oligonucleotide-Based Therapy in Neuromuscular Disorders. Drugs 2020;80:1397-415. [PMID: 32696107 DOI: 10.1007/s40265-020-01363-3] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
35 Rehorst WA, Thelen MP, Nolte H, Türk C, Cirak S, Peterson JM, Wong GW, Wirth B, Krüger M, Winter D, Kye MJ. Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy. Acta Neuropathol Commun 2019;7:154. [PMID: 31615574 DOI: 10.1186/s40478-019-0806-3] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 4.0] [Reference Citation Analysis]
36 Cappella M, Elouej S, Biferi MG. The Potential of Induced Pluripotent Stem Cells to Test Gene Therapy Approaches for Neuromuscular and Motor Neuron Disorders. Front Cell Dev Biol 2021;9:662837. [PMID: 33937264 DOI: 10.3389/fcell.2021.662837] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
37 Belter L, Cruz R, Kulas S, McGinnis E, Dabbous O, Jarecki J. Economic burden of spinal muscular atrophy: an analysis of claims data. J Mark Access Health Policy 2020;8:1843277. [PMID: 33224449 DOI: 10.1080/20016689.2020.1843277] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
38 Shorrock HK, van der Hoorn D, Boyd PJ, Llavero Hurtado M, Lamont DJ, Wirth B, Sleigh JN, Schiavo G, Wishart TM, Groen EJN, Gillingwater TH. UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy. Brain 2018;141:2878-94. [PMID: 30239612 DOI: 10.1093/brain/awy237] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 5.3] [Reference Citation Analysis]
39 Belter L, Cook SF, Crawford TO, Jarecki J, Jones CC, Kissel JT, Schroth M, Hobby K. An overview of the Cure SMA membership database: Highlights of key demographic and clinical characteristics of SMA members. J Neuromuscul Dis 2018;5:167-76. [PMID: 29614694 DOI: 10.3233/JND-170292] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 2.8] [Reference Citation Analysis]
40 Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP. Current Clinical Applications of In Vivo Gene Therapy with AAVs. Mol Ther 2021;29:464-88. [PMID: 33309881 DOI: 10.1016/j.ymthe.2020.12.007] [Cited by in Crossref: 29] [Cited by in F6Publishing: 20] [Article Influence: 14.5] [Reference Citation Analysis]
41 Wan HWY, Carey KA, D'Silva A, Vucic S, Kiernan MC, Kasparian NA, Farrar MA. Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review. Orphanet J Rare Dis 2020;15:70. [PMID: 32164772 DOI: 10.1186/s13023-020-1339-3] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 5.0] [Reference Citation Analysis]
42 Lally C, Jones C, Farwell W, Reyna SP, Cook SF, Flanders WD. Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States. Orphanet J Rare Dis 2017;12:175. [PMID: 29183396 DOI: 10.1186/s13023-017-0724-z] [Cited by in Crossref: 31] [Cited by in F6Publishing: 25] [Article Influence: 6.2] [Reference Citation Analysis]
43 Adams SP, Gravett E, Kent N, Kricke S, Ifederu A, Scoto M, Samsuddin S, Muntoni F. Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay. Int J Neonatal Screen 2021;7:69. [PMID: 34842601 DOI: 10.3390/ijns7040069] [Reference Citation Analysis]
44 Weng WC, Hsu YK, Chang FM, Lin CY, Hwu WL, Lee WT, Lee NC, Chien YH. CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening. Genet Med 2021;23:415-20. [PMID: 33033402 DOI: 10.1038/s41436-020-00987-w] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
45 Sturm S, Günther A, Jaber B, Jordan P, Al Kotbi N, Parkar N, Cleary Y, Frances N, Bergauer T, Heinig K, Kletzl H, Marquet A, Ratni H, Poirier A, Müller L, Czech C, Khwaja O. A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier. Br J Clin Pharmacol 2019;85:181-93. [PMID: 30302786 DOI: 10.1111/bcp.13786] [Cited by in Crossref: 43] [Cited by in F6Publishing: 37] [Article Influence: 10.8] [Reference Citation Analysis]
46 Cumplido-Trasmonte C, Ramos-Rojas J, Delgado-Castillejo E, Garcés-Castellote E, Puyuelo-Quintana G, Destarac-Eguizabal MA, Barquín-Santos E, Plaza-Flores A, Hernández-Melero M, Gutiérrez-Ayala A, Martínez-Moreno M, García-Armada E. Effects of ATLAS 2030 gait exoskeleton on strength and range of motion in children with spinal muscular atrophy II: a case series. J Neuroeng Rehabil 2022;19:75. [PMID: 35854321 DOI: 10.1186/s12984-022-01055-x] [Reference Citation Analysis]
47 Deguise MO, De Repentigny Y, Tierney A, Beauvais A, Michaud J, Chehade L, Thabet M, Paul B, Reilly A, Gagnon S, Renaud JM, Kothary R. Motor transmission defects with sex differences in a new mouse model of mild spinal muscular atrophy. EBioMedicine 2020;55:102750. [PMID: 32339936 DOI: 10.1016/j.ebiom.2020.102750] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
48 Thokala P, Stevenson M, Kumar VM, Ren S, Ellis AG, Chapman RH. Cost effectiveness of nusinersen for patients with infantile-onset spinal muscular atrophy in US. Cost Eff Resour Alloc 2020;18:41. [PMID: 33041673 DOI: 10.1186/s12962-020-00234-8] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
49 Dangouloff T, Vrščaj E, Servais L, Osredkar D; SMA NBS World Study Group. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go. Neuromuscul Disord 2021;31:574-82. [PMID: 33985857 DOI: 10.1016/j.nmd.2021.03.007] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 6.0] [Reference Citation Analysis]
50 Šoltić D, Shorrock HK, Allardyce H, Wilson EL, Holt I, Synowsky SA, Shirran SL, Parson SH, Gillingwater TH, Fuller HR. Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy. Hum Mol Genet 2019;28:3515-27. [PMID: 31397869 DOI: 10.1093/hmg/ddz195] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
51 Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W. One Year of Newborn Screening for SMA - Results of a German Pilot Project. J Neuromuscul Dis 2019;6:503-15. [PMID: 31594245 DOI: 10.3233/JND-190428] [Cited by in Crossref: 48] [Cited by in F6Publishing: 28] [Article Influence: 24.0] [Reference Citation Analysis]
52 Chong LC, Gandhi G, Lee JM, Yeo WWY, Choi SB. Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review. Int J Mol Sci 2021;22:8962. [PMID: 34445667 DOI: 10.3390/ijms22168962] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
53 Kimizu T, Ida S, Okamoto K, Awano H, Niba ETE, Wijaya YOS, Okazaki S, Shimomura H, Lee T, Tominaga K, Nabatame S, Saito T, Hamazaki T, Sakai N, Saito K, Shintaku H, Nozu K, Takeshima Y, Iijima K, Nishio H, Shinohara M. Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan. Int J Neonatal Screen 2021;7:45. [PMID: 34287247 DOI: 10.3390/ijns7030045] [Reference Citation Analysis]
54 Kizina K, Akkaya Y, Jokisch D, Stolte B, Totzeck A, Munoz-Rosales J, Thimm A, Bolz S, Brakemeier S, Pul R, Aslan D, Hackert J, Kleinschnitz C, Hagenacker T. Cognitive Impairment in Adult Patients with 5q-Associated Spinal Muscular Atrophy. Brain Sci 2021;11:1184. [PMID: 34573206 DOI: 10.3390/brainsci11091184] [Reference Citation Analysis]
55 Ricci F, Vacchetti M, Brusa C, Vercelli L, Davico C, Vitiello B, Mongini T. New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges. Expert Review of Clinical Pharmacology 2019;12:757-70. [DOI: 10.1080/17512433.2019.1634543] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
56 Sergott RC, Amorelli GM, Baranello G, Barreau E, Beres S, Kane S, Mercuri E, Orazi L, SantaMaria M, Tremolada G, Santarsiero D, Waskowska A, Yashiro S, Denk N, Fürst-Recktenwald S, Gerber M, Gorni K, Jaber B, Jacobsen B, Mueller L, Nave S, Scalco RS, Marzoli SB; FIREFISH, SUNFISH, JEWELFISH Working Groups. Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy. Ann Clin Transl Neurol 2021;8:54-65. [PMID: 33231373 DOI: 10.1002/acn3.51239] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
57 Bonanno S, Marcuzzo S, Malacarne C, Giagnorio E, Masson R, Zanin R, Arnoldi MT, Andreetta F, Simoncini O, Venerando A, Gellera C, Pantaleoni C, Mantegazza R, Bernasconi P, Baranello G, Maggi L. Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients. Biomedicines 2020;8:E21. [PMID: 31991852 DOI: 10.3390/biomedicines8020021] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 6.0] [Reference Citation Analysis]
58 Zeevi DA, Chung WK, Levi C, Scher SY, Bringer R, Kahan Y, Muallem H, Benel R, Hirsch Y, Weiden T, Ekstein A, Ekstein J. Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts. Mol Genet Genomic Med 2021;9:e1756. [PMID: 34288589 DOI: 10.1002/mgg3.1756] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
59 Peterson I, Cruz R, Sarr F, Stanley AM, Jarecki J. The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States. Orphanet J Rare Dis 2020;15:118. [PMID: 32443972 DOI: 10.1186/s13023-020-01387-8] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
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