Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
Biomarker
|
disease |
BEFREE |
Most patients (198) with CMT1A carried the 17p11.2 duplication including the PMP22 gene, 45 patients with HNPP were all affected by deletion of the 17p11.2 locus, and 10 patients presented with axonal phenotypes: CMT2A (MFN2), CMT2N (AARS), and CMT1X (GJB1).
|
30569560 |
2019 |
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.
|
26032230 |
2015 |
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
|
26257172 |
2015 |
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
|
22009580 |
2012 |
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
|
22206013 |
2011 |
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.
|
20045102 |
2010 |
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.
|
20045102 |
2010 |
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
|
28493438 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
|
28493438 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
|
25817015 |
2015 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Charcot-Marie-Tooth Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
We identified three novel disease-associated missense mutations in the alanyl-tRNA synthetase (AARS) gene in three families with dominant axonal Charcot-Marie-Tooth (CMT) disease.
|
30124830 |
2018 |
Charcot-Marie-Tooth Disease
|
0.160 |
Biomarker
|
disease |
BEFREE |
Although alanyl-tRNA synthetase (AARS) is a synthetase implicated in a wide range of neurological disorders from Charcot-Marie-Tooth disease to infantile epileptic encephalopathy, there have been limited data on their pathogenesis.
|
28493438 |
2017 |
Charcot-Marie-Tooth Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Mutations in AARS were previously associated with an autosomal-dominant inherited form of axonal neuropathy, Charcot-Marie-Tooth disease type 2N (CMT2N).
|
25817015 |
2015 |
Charcot-Marie-Tooth Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Together, our data suggest that impaired tRNA charging plays a role in the molecular pathology of CMT2N, and that patients with CMT should be directly tested for the p.Arg329His AARS mutation.
|
22009580 |
2012 |
Charcot-Marie-Tooth Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
AARS mutations result in not only a CMT phenotype but also a dHMN phenotype.
|
22573628 |
2012 |
Charcot-Marie-Tooth Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.
|
20045102 |
2010 |
Charcot-Marie-Tooth Disease
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
|
|
|