| Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? | Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD, Mercuri E, ITASMAC Working Group. | 02/15/2024 |
| The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers. | The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers.
Davidson JE, Russell JS, Martinez NN, Mowat DR, Jones KJ, Kirk EP, Kariyawasam D, Farrar M, D'Silva A., Free PMC Article | 08/9/2023 |
| Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study. | Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
Kimizu T, Ida S, Oki K, Shima M, Nishimoto S, Nakajima K, Ikeda T, Mogami Y, Yanagihara K, Matsuda K, Nishi E, Hasegawa Y, Nozaki M, Fujita H, Irie A, Katayama T, Okamoto N, Imai K, Nishio H, Suzuki Y. | 06/21/2023 |
| A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy. | A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy.
Wang L, Ji Y, Chen Y, Bai J, Gao P, Feng P. | 03/13/2023 |
| Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression. | Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression.
Kanda S, Moulton E, Butchbach MER., Free PMC Article | 07/23/2022 |
| Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing. | Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.
Dai M, Xu Y, Sun Y, Xiao B, Ying X, Liu Y, Jiang W, Zhang J, Liu X, Ji X. | 07/16/2022 |
| Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies? | Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?
Schwartz O, Kölbel H, Blaschek A, Gläser D, Burggraf S, Röschinger W, Schara U, Müller-Felber W, Vill K. | 05/14/2022 |
| High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts. | High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts.
Wijaya YOS, Niba ETE, Nishio H, Okamoto K, Awano H, Saito T, Takeshima Y, Shinohara M., Free PMC Article | 04/30/2022 |
| SMN protein is required throughout life to prevent spinal muscular atrophy disease progression. | SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.
Zhao X, Feng Z, Risher N, Mollin A, Sheedy J, Ling KKY, Narasimhan J, Dakka A, Baird JD, Ratni H, Lutz C, Chen KS, Naryshkin NA, Ko CP, Welch E, Metzger F, Weetall M. | 04/16/2022 |
| Identification of SRSF10 as a regulator of SMN2 ISS-N1. | Identification of SRSF10 as a regulator of SMN2 ISS-N1.
Frederiksen SB, Holm LL, Larsen MR, Doktor TK, Andersen HS, Hastings ML, Hua Y, Krainer AR, Andresen BS., Free PMC Article | 04/9/2022 |
| Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants. | Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants.
Milligan JN, Larson JL, Filipovic-Sadic S, Laosinchai-Wolf W, Huang YW, Ko TM, Abbott KM, Lemmink HH, Toivonen M, Schleutker J, Gentile C, Van Deerlin VM, Zhu H, Latham GJ., Free PMC Article | 04/2/2022 |
| Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA. | Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA.
Arikan Y, Berker Karauzum S, Uysal H, Mihci E, Nur B, Duman O, Haspolat S, Altiok Clark O, Toylu A. | 03/19/2022 |
| Systematic characterization of short intronic splicing-regulatory elements in SMN2 pre-mRNA. | Systematic characterization of short intronic splicing-regulatory elements in SMN2 pre-mRNA.
Gao Y, Lin KT, Jiang T, Yang Y, Rahman MA, Gong S, Bai J, Wang L, Sun J, Sheng L, Krainer AR, Hua Y., Free PMC Article | 02/26/2022 |
| Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA. | Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA.
Dominguez CE, Cunningham D, Venkataramany AS, Chandler DS. | 02/5/2022 |
| Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients. | Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
Blasco-Pérez L, Paramonov I, Leno J, Bernal S, Alias L, Fuentes-Prior P, Cuscó I, Tizzano EF., Free PMC Article | 01/29/2022 |
| Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. | Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.
Stabley DL, Holbrook J, Scavina M, Crawford TO, Swoboda KJ, Robbins KM, Butchbach MER. | 11/22/2021 |
| Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development. | Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.
Butchbach MER., Free PMC Article | 10/23/2021 |
| Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene. | Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene.
Niba ETE, Nishio H, Wijaya YOS, Lai PS, Tozawa T, Chiyonobu T, Yamadera M, Okamoto K, Awano H, Takeshima Y, Saito T, Shinohara M. | 10/9/2021 |
| The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy. | The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.
Costa-Roger M, Blasco-Pérez L, Cuscó I, Tizzano EF., Free PMC Article | 10/2/2021 |
| Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA). | Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA).
Rouzier C, Chaussenot A, Paquis-Flucklinger V. | 09/18/2021 |
| Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA). | Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA).
Lefebvre S, Sarret C. | 09/18/2021 |
| Conditional deletion of SMN in cell culture identifies functional SMN alleles. | Conditional deletion of SMN in cell culture identifies functional SMN alleles.
Blatnik AJ, McGovern VL, Le TT, Iyer CC, Kaspar BK, Burghes AHM., Free PMC Article | 09/4/2021 |
| Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study. | Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study.
Ou SF, Ho CS, Lee WT, Lin KL, Jones CC, Jong YJ, SMA Study Group. | 09/4/2021 |
| DDX21 interacts with nuclear AGO2 and regulates the alternative splicing of SMN2. | DDX21 interacts with nuclear AGO2 and regulates the alternative splicing of SMN2.
Gong M, Zhang X, Wang Y, Mao G, Ou Y, Wei C, Hu X, Xiang S. | 07/3/2021 |
| Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders. | 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. | 06/26/2021 |