|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent-ventilation by 13.6 months.
|
30548438 |
2019 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Type I spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by the loss or mutation of the survival motor neuron 1 (SMN1) gene.
|
31183542 |
2019 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Augmenting the SMN Protein to Treat Infantile Spinal Muscular Atrophy.
|
29518354 |
2018 |
|
Juvenile Spinal Muscular Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Seven children (6.4 ± 2.0 years old, range four to ten; one SMA I, five SMA II, and one SMA III) treated with salbutamol (duration 23 ± 8 months) were assessed.
|
28668232 |
2017 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1.
|
26794302 |
2016 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
To find out whether PLS3 is also upregulated in MNs of asymptomatic individuals and thus a convincing SMA protective modifier, we generated induced pluripotent stem cells (iPSCs) from fibroblasts of three asymptomatic and three SMA III-affected siblings from two families and compared these to iPSCs from a SMA I patient and control individuals.
|
26573968 |
2016 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype.
|
25572663 |
2015 |
|
Juvenile Spinal Muscular Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a novel SMN1 mutation responsible for a relatively mild SMA phenotype and three hybrid SMN gene types in patients with SMA type III.
|
25716911 |
2015 |
|
Juvenile Spinal Muscular Atrophy
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
However, an intact full-length SMN1 complementary deoxyribonucleic acid was identified, and SMN protein levels in a muscle specimen were identical to that of a healthy control, formally excluding the diagnosis of spinal muscular atrophy III.
|
24334346 |
2014 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Type I spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by loss or mutations of the survival motor neuron 1 (SMN1) gene.
|
22302308 |
2012 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.
|
21389246 |
2011 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.
|
21088113 |
2011 |
|
Juvenile Spinal Muscular Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
We suggest that the SMN2 gene copy quantification in SMA patients could be used as a prognostic tool for discrimination between the SMA type II and SMA type III diagnoses, whereas the FL-SMN/SMNΔ7 mRNA ratio could be a useful biomarker for detecting changes during SMA pharmacotherapy.
|
21762474 |
2011 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Infantile spinal muscular atrophy (SMA) caused by homozygous SMN1 gene deletions/mutations is characterized by neuronal loss and axonopathy of motor neurons.
|
20583119 |
2010 |
|
Juvenile Spinal Muscular Atrophy
|
1.000 |
Biomarker
|
disease |
MGD |
A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.
|
20705738 |
2010 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
Biomarker
|
disease |
MGD |
SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis.
|
19497369 |
2009 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We reviewed the natural history and assessed the SMN2 copy number of 66 patients with infantile spinal muscular atrophy (SMA) type I born between 2000 and 2005 in Germany whose diagnosis was confirmed by a homozygous SMN1 deletion in the first 6 months of life.
|
19780763 |
2009 |
|
Juvenile Spinal Muscular Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Eleven out of 32 (34%) SMA1 patients showed NAIP deletion, and none of SMA2 and SMA3 patients was found to have NAIP deletion.
|
19198020 |
2009 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this paper is to report prolongation of survival for Werdnig-Hoffman's disease (spinal muscular atrophy type 1, SMA 1) by use of non-invasive respiratory muscle aids compared with tracheostomy, and to present reasons for offering this as an option to the parents of these children.
|
18280979 |
2008 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In most patients with infantile spinal muscular atrophy (SMA) both exons 7 and 8 of the SMN1 gene are deleted, but the deletion may also be restricted to exon 7.
|
18155522 |
2008 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Homozygous deletions/mutations of the SMN1 gene cause infantile spinal muscular atrophy (SMA).
|
18662980 |
2008 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
Biomarker
|
disease |
CTD_human |
5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells.
|
17924536 |
2008 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
In contrast to the infantile spinal muscular atrophy type 1 (SMA1; Werdnig-Hoffmann disease) with weakness predominantly of proximal muscles and bell-shaped thorax deformities due to intercostal muscle atrophy, infants with distal spinal muscular atrophy 1 usually present with distal muscle weakness, foot deformities, and sudden respiratory failure due to diaphragmatic paralysis that often requires urgent intubation.
|
18263757 |
2008 |
|
Juvenile Spinal Muscular Atrophy
|
1.000 |
Biomarker
|
disease |
CTD_human |
5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells.
|
17924536 |
2008 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
|
15580564 |
2005 |