The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method
Global Medical Genetics, 2023 This study aimed to define the copy numbers of SMN1 and SMN2 genes and the diagnosis rate and carrier frequency of spinal muscular atrophy (SMA) in the Thrace region of Turkey.
Sinem Yalcintepe +9 more
doaj +1 more source
Adult spinal muscular atrophy: problems of early diagnosis
Нервно-мышечные болезни, 2022 Background. Spinal muscular atrophy (SMA) associated with chromosome 5q is an autosomal recessive neuromuscular disease caused by a mutation in the SMN1 gene. Adult forms of SMA are relatively rarer and associated with significant diagnostic difficulties
Yu. A. Shpilyukova, S. N. Illarioshkin
doaj +1 more source
A role for SMN1 duplications in amyotrophic lateral sclerosis [PDF]
Nature Reviews Neurology, 2012 openalex +2 more sources
Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy [PDF]
, 2008 The role of heterotopic (migratory) motoneurons (HMN) in the pathogenesis of spinal muscular atrophy (SMA) is still controversial. We examined the occurrence and amount of HMN in spinal cord tissue from eight children with SMA (six with SMA-I and two ...
Barišić, Nina +10 more
core +1 more source
Frontiers in Cellular Neuroscience, 2023 The vast majority of severe (Type 0) spinal muscular atrophy (SMA) cases are caused by homozygous deletions of survival motor neuron 1 (SMN1). We report a case in which the patient has two copies of SMN1 but clinically presents as Type 0 SMA. The patient
Leping Li +8 more
doaj +1 more source
Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]
, 2016 Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J. +9 more
core +3 more sources
Expand+Functional selection and systematic analysis of intronic splicing elements identify active sequence motifs and associated splicing factors [PDF]
, 2010 Despite the critical role of pre-mRNA splicing in generating proteomic diversity and regulating gene expression, the sequence composition and function of intronic splicing regulatory elements (ISREs) have not been well elucidated.
Berglund, J. Andrew +4 more
core +4 more sources
Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening [PDF]
, 2018 Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
Connolly, Anne +14 more
core +2 more sources
Enhanced snoMEN Vectors Facilitate Establishment of GFP–HIF-1α Protein Replacement Human Cell Lines [PDF]
, 2016 The snoMEN (snoRNA Modulator of gene ExpressioN) vector technology was developed from a human box C/D snoRNA, HBII-180C, which contains an internal sequence that can be manipulated to make it complementary to RNA targets, allowing knock-down of targeted ...
A Huttenhofer +56 more
core +9 more sources
Frontiers in Neurology, 2021 Background: Spinal muscular atrophy (SMA) linked to chromosome 5q is an inherited progressive neuromuscular disorder with a narrow therapeutic window for optimal treatment.
B. Monica Bowen +9 more
doaj +1 more source