|
Hallervorden-Spatz Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.
|
27185474 |
2016 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.
|
24655737 |
2014 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.
|
24075960 |
2013 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.
|
24075960 |
2013 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
The patient was found to have two mutations in the pantothenate kinase 2 (PANK2) gene that have been previously associated with pantothenate kinase-associated neurodegeneration: a paternally inherited p.G521R and maternally inherited p.T528M.
|
23968566 |
2013 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.
|
22930366 |
2013 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.
|
22221393 |
2012 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
The PanK2(G521R), the most frequent mutation in pantothenate kinase-associated neurodegeneration, was devoid of activity and did not fold properly.
|
16272150 |
2006 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
The PanK2(G521R), the most frequent mutation in pantothenate kinase-associated neurodegeneration, was devoid of activity and did not fold properly.
|
16272150 |
2006 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.
|
16450344 |
2006 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.
|
15834858 |
2005 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2.
|
15659606 |
2005 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.
|
15834858 |
2005 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
|
12510040 |
2003 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
|
12510040 |
2003 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
|
11479594 |
2001 |
|
Hallervorden-Spatz Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
|
11479594 |
2001 |