Results 91 to 100 of about 9,755 (237)

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page 909-915, July 2026.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

Splicing therapeutics in SMN2 and APOB

, 2009
Splicing therapeutics are defined as the deliberate modification of RNA splicing to achieve therapeutic goals. Various techniques for splicing therapeutics have been described, and most of these involve the use of antisense oligonucleotide-based ...
Krainer, AR, Khoo, B., Krainer, A. R., Khoo, B   +3 more
core  

HnRNP C1/C2 May Regulate Exon 7 Splicing in the Spinal Muscular Atrophy Gene SMN1 [PDF]

, 2008
Spinal muscular atrophy (SMA) is caused by loss of SMN1. A nearly identical gene,SMN2, fails to compensate for the loss of SMN1 because SMN2 produces mainly anexon 7-skipped product.
LEE, MYEONG　JIN, 西尾, 久英, ニシオ, ヒサヒデ, Kato, Nozomu, Nishio, Hisahide, Irimura, Sanae, Kitamura, Keiko, GUNADI, Matsuo, Masafumi, Saiki, Kayoko, Takeuchi, Atsuko   +10 more
core  

High-throughput screening reveals novel mutations in spinal muscular atrophy patients

Italian Journal of Pediatrics, 2020
Background Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease associated with severe muscle atrophy and weakness in the limbs and trunk. The discovery of mutated genes is helpful in diagnosis and treatment for SMA.
Ruiping Zhang, Chunyu Gu, Linjie Pu, Yingtao Meng, Jianbo Shu, Chunquan Cai   +5 more
doaj   +1 more source

Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype

, 2015
Spinal muscular atrophy (SMA) is a genetic disorder characterized by degeneration of motor neurons and muscle weakness and atrophy. The majority of patients harbor homozygous SMN1 deletions, resulting in an SMN1-null genotype. A variable number of copies
D. Ronchi, B. Del Menico, N. Bresolin, G.P. Comi, S. Corti, S. C. Previtali, M. G. N. Sora, G. Barera   +7 more
core   +1 more source

3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons

The Scientific World Journal, 2014
Spinal muscular atrophy (SMA) is a human genetic disease which occurs because of the deletion or mutation of SMN1 gene. SMN1 gene encodes the SMN protein which plays a key role in spliceosome assembly. Although human patients contain SMN2, a duplicate of
Sunghee Cho, Heegyum Moon, Tiing Jen Loh, Hyun Kyung Oh, Hey-Ran Kim, Myung-Geun Shin, D. Joshua Liao, Jianhua Zhou, Xuexiu Zheng, Haihong Shen   +9 more
doaj   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy. [PDF]

Neurol Genet
Rimoldi M, Magri F, Meneri M, Gagliardi D, Ada Sansone V, Albamonte E, Ottoboni L, Comi GP, Mercuri E, Tiziano FD, Ronchi D, Corti S.   +11 more
europepmc   +2 more sources

The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.

PLoS ONE, 2019
Spinal Muscular Atrophy (SMA) is a disorder characterized by the degeneration of motor neurons in the spinal cord, leading to muscular atrophy. In the majority of cases, SMA is caused by the homozygous absence of the SMN1 gene.
Raymon Vijzelaar, Reinier Snetselaar, Martijn Clausen, Amanda G Mason, Marrit Rinsma, Marinka Zegers, Naomi Molleman, Renske Boschloo, Rizkat Yilmaz, Romy Kuilboer, Sylvia Lens, Syamiroh Sulchan, Jan Schouten   +12 more
doaj   +1 more source

Risdiplam Add‐On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi‐Center Case Series

Muscle &Nerve, Volume 73, Issue 6, Page 1164-1171, June 2026.
ABSTRACT Introduction/Aims Three disease‐modifying therapies are approved for individuals with spinal muscular atrophy (SMA); however, data concerning the combination of these therapies remain limited. This study aimed to evaluate the safety and efficacy of add‐on risdiplam in children who had experienced clinical deterioration despite gene therapy ...
Corinna Stoltenburg, Klaus Goldhahn, Arpad von Moers, Angela M. Kaindl, Claudia Weiß   +4 more
wiley   +1 more source