Condition: Hallervorden-Spatz Syndrome


rs137852968 in MIR103A2;PANK2 gene and Hallervorden-Spatz Syndrome PMID 12058097 2002 HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.

PMID 28821231 2017 Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

PMID 16240131 2005 A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.

PMID 16437574 2006 Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

rs775459398 in MIR103B2;MIR103A2;PANK2 gene and Hallervorden-Spatz Syndrome PMID 11479594 2001 A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

PMID 22930366 2013 Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.

PMID 12510040 2003 Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

PMID 15834858 2005 Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.

PMID 24075960 2013 A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

PMID 27185474 2016 A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.

PMID 24655737 2014 Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.

rs137852959 in MIR103B2;PANK2 gene and Hallervorden-Spatz Syndrome PMID 15834858 2005 Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.

PMID 27185474 2016 A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.

PMID 24075960 2013 A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

PMID 15659606 2005 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.

PMID 24655737 2014 Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.

PMID 16450344 2006 Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.

PMID 11479594 2001 A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 22930366 2013 Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.

PMID 16272150 2006 The PanK2(G521R), the most frequent mutation in pantothenate kinase-associated neurodegeneration, was devoid of activity and did not fold properly.

PMID 12510040 2003 Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

PMID 22221393 2012 Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.

rs759332123 in MIR103B2;PANK2;MIR103A2 gene and Hallervorden-Spatz Syndrome PMID 12510040 2003 Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

PMID 15834858 2005 Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.

PMID 22930366 2013 Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.

PMID 24075960 2013 A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

PMID 27185474 2016 A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.

PMID 11479594 2001 A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

PMID 24655737 2014 Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.

rs1261714833 in PANK2 gene and Hallervorden-Spatz Syndrome PMID 11479594 2001 A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

PMID 12510040 2003 Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

PMID 24655737 2014 Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.

PMID 27185474 2016 A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.

PMID 22930366 2013 Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.

PMID 15834858 2005 Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.

PMID 24075960 2013 A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

PMID 22127788 2012 "Missense PANK2 mutation without ""eye of the tiger"" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN)."

PMID 17903678 2007 Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family.

PMID 25915509 2015 Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.

PMID 22682757 2012 Motor activation in patients with Pantothenate-Kinase Associated Neurodegeneration: a functional magnetic resonance imaging study.

PMID 28357202 2016 A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration.

PMID 16023068 2005 Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).

rs765679726 in PANK2;PANK2-AS1 gene and Hallervorden-Spatz Syndrome PMID 22930366 2013 Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.

PMID 27185474 2016 A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.

PMID 15834858 2005 Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.

PMID 11479594 2001 A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

PMID 24075960 2013 A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

PMID 12510040 2003 Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

PMID 24655737 2014 Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.