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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 10 (of 10 Records)

Query Trace: Disease and PANK2[original query]
Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease.
Neuroscience letters 2005 May 379 (3): 195-8.
Klopstock Thomas, Elstner Matthias, Lücking Christoph B, Müller-Myhsok Bertram, Gasser Thomas, Botz Evelyn, Lichtner Peter, Hörtnagel Konstan
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
Annals of neurology 2006 Feb 59 (2): 248-56.
Hartig Monika B, Hörtnagel Konstanze, Garavaglia Barbara, Zorzi Giovanna, Kmiec Tomasz, Klopstock Thomas, Rostasy Kevin, Svetel Marina, Kostic Vladimir S, Schuelke Markus, Botz Evelyn, Weindl Adolf, Novakovic Ivana, Nardocci Nardo, Prokisch Holger, Meitinger Thom
Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.
PloS one 2015 10 (6): e0129656.
Golanska Ewa, Gajos Agata, Sieruta Monika, Szybka Malgorzata, Rudzinska Monika, Ochudlo Stanislaw, Kmiec Tomasz, Liberski Pawel P, Bogucki Andrz
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
Molecular genetics and metabolism 2015 Oct .
Woltjer Randall L, Reese Lindsay C, Richardson Brian E, Tran Huong, Green Sarah, Pham Thao, Chalupsky Megan, Gabriel Isabella, Light Tyler, Sanford Lynn, Jeong Suh Young, Hamada Jeffrey, Schwanemann Leila K, Rogers Caleb, Gregory Allison, Hogarth Penelope, Hayflick Susan
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
JIMD reports 2015 1 19 85-93.
Bijarnia-Mahay Sunita, Movva Sireesha, Gupta Neerja, Sharma Deepak, Puri Ratna D, Kotecha Udhaya, Saxena Renu, Kabra Madhulika, Mohan Neelam, Verma Ishwar
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration].
Zhonghua er ke za zhi = Chinese journal of pediatrics 2017 9 55 (9): 678-682.
Zhou J, He J, Kou L P, Feng H C, Deng Y H, Zhang Z B, Zhou L, Wang J M, Jiang Y W, Wu
Substantia nigra echogenicity is associated with serum ferritin, gender and iron-related genes in Parkinson's disease.
Scientific reports 2020 May 10 (1): 8660.
Li Kai, Ge Yi-Lun, Gu Chen-Chen, Zhang Jin-Ru, Jin Hong, Li Jiao, Cheng Xiao-Yu, Yang Ya-Ping, Wang Fen, Zhang Ying-Chun, Chen Jing, Mao Cheng-Jie, Liu Chun-Fe
Natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration.
CNS neuroscience & therapeutics 2020 2 26 (7): 754-761.
Chang Xuting, Zhang Jie, Jiang Yuwu, Wang Jingmin, Wu
PANK2 p.A170fs?a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family.
The International journal of neuroscience 2020 10 132 (6): 582-588.
Yang Fan, Wang Juan, Yang Ze, Ren Zhaorui, Zeng Fan
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
EBioMedicine 2022 2 77 103869.
Kolarova Hana, Tan Jing, Strom Tim M, Meitinger Thomas, Wagner Matias, Klopstock Thom
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