Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.
|
15372378 |
2004 |
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect.
|
22454507 |
2012 |
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria.
|
22258555 |
2012 |
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Amyotrophic lateral sclerosis-linked mutant VAPB enhances TDP-43-induced motor neuronal toxicity.
|
21933185 |
2011 |
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons.
|
23771029 |
2013 |
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation.
|
26566915 |
2016 |
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Elimination of the native structure and solubility of the hVAPB MSP domain by the Pro56Ser mutation that causes amyotrophic lateral sclerosis.
|
20377183 |
2010 |
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia.
|
16967488 |
2006 |
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil.
|
24212516 |
2013 |
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates.
|
17804640 |
2007 |
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
|
|
0.700 |
CausalMutation
|
CLINVAR |
The ALS8-associated mutant VAPB(P56S) is resistant to proteolysis in neurons.
|
21275991 |
2011 |