Results 131 to 140 of about 12,639 (247)
Prion-Like Domain Dysfunction in SMN1 Initiates Aberrant hnRNP Assembly, Multiple Protein Aggregation and Causing Spinal Muscular Atrophy [PDF]
, 2023 I‐Fan Wang +5 more
openalex +1 more source
Measurement of SMN protein in Blood samples Biomarker test for SMA [PDF]
, 2013 Spinal muscular atrophy (SMA) is a severe motor neuron disease that is the leading genetic cause for infant mortality. This disease arises from mutations in the Survival of Motor Neuron (SMN) gene that are implicated in reducing the overall expression of
Pi, Hongyang
core
Differentiating lower motor neuron syndromes [PDF]
, 2017 Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal
Cornblath, DR +12 more
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High-throughput analysis revealed mutations’ diverging effects on SMN1 exon 7 splicing [PDF]
, 2019 Přemysl Souček +9 more
openalex +1 more source
Egyptian Journal of Medical Human GeneticsBackground Spinal muscular atrophy (SMA) is a group of motor neuron diseases. In 95% of SMA patients, the telomeric copy of the SMN gene (SMN1) is homozygously deleted.
Mohammad Shariati +8 more
doaj +1 more source
SMN1 heterozygosity is associated with decreased aneuploidy rates [PDF]
Fertility and Sterility, 2018 D. Aharon +7 more
openaire +1 more source
Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation [PDF]
, 2017 In spinal muscular atrophy (SMA), the leading genetic cause of early childhood death, the survival motor neuron 1 gene (SMN1) is deleted or inactivated.
Barde, Isabelle +9 more
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Flail arm syndrome due to duplication mutations in the SMN1 gene: A case report
, 2023 Han Luo, Shanshan Li, Bo Liu
openalex +1 more source
Survival of motor neuron 1 telomeric (SMN1) [PDF]
Science-Business eXchange, 2010 openaire +3 more sources