379. CNS Delivery of Human SMN1 by Adeno-Associated Virus Is Highly Efficacious in a Mouse Model of Spinal Muscular Atrophy Type I [PDF]
, 2009 openalex +1 more source
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype [PDF]
, 2001 Vittorio Sossi +7 more
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P271: Beyond SMN1: Review of genotype-phenotype correlation in individuals with ≥4 SMN2 copy numbers
, 2023 Zöe Powis +3 more
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Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls [PDF]
, 2015 Ping Fang +11 more
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Detekciya razlichnyh form poteri gena SMN1 s pomoshch'yu nabora dlya PCR-RV [PDF]
, 2023 В. Д. Назаров +8 more
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Акушерство, гинекология и репродукцияIntroduction. The rate of infertile couples comprises 17–24 % and tends to increase, with more of them turning to assisted reproductive technologies (ART).
E. V. Kudryavtseva +5 more
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Current Aspects in the Molecular Genetics and Diagnostics of Spinal Muscular Atrophy
Taiwanese Journal of Obstetrics & Gynecology, 2005 Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene on 5q13. It leads to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal ...
Shu-Chin Chien, Yi-Ning Su
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Survival of motor neuron 1 telomeric (SMN1; SMN); survival of motor neuron 2 centromeric (SMN2; SMNC) [PDF]
, 2009 openalex +1 more source
Homozygous deletion of exon 7 in SMN1 gene without phenotypic features of spinal muscular atrophy
, 2022 Mahmoud Ghanei +3 more
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