|
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 |
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 |
Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.
|
12875676 |
2003 |
|
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 |
|
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 |
CLINVAR |
Identification and characterization of a spinal muscular atrophy-determining gene.
|
7813012 |
1995 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A Chinese male infant with arthrogryposis multiplex congenita (AMC), ventricular and atrial septal defects, and Werdnig-Hoffmann disease (WHD) had deletions of the telomeric copy of the survival motor neuron (SMN(T)) and neuronal apoptosis inhibitory protein genes.
|
9748047 |
1998 |
|
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 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Detection of novel mutations in the SMN Tudor domain in type I SMA patients.
|
15249625 |
2004 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?
|
9147655 |
1997 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.
|
8922999 |
1996 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The classical form of severe spinal muscular atrophy (SMA type 1; Werdnig-Hoffmann disease) has a very consistent clinical phenotype that is well recognized by paediatricians.
|
10700538 |
1999 |
|
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 |
|
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 |
BEFREE |
However, molecular analysis revealed a homozygous deletion of exons 7 and 8 of the survival motor neuron (SMN) gene, suggesting that the patient had Werdnig-Hoffmann disease.
|
9748045 |
1998 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The diagnostic muscle biopsy finding in severe infantile spinal muscular atrophy (Werdnig-Hoffmann disease, SMA type 1) is considered to be large-group atrophy with isolated clusters of hypertrophic type I myofibers.
|
1940135 |
1991 |
|
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 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previously, we reported the relatively high incidence of a large deletion including the SMN1 region in Japanese spinal muscular atrophy type I patients.
|
11504604 |
2001 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification and characterization of a spinal muscular atrophy-determining gene.
|
7813012 |
1995 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
|
15580564 |
2005 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
|
10732817 |
1997 |
|
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 |