Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: PANK2[original query] |
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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 |
Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic. PloS one 2015 10 (4): e0125861. Schiessl-Weyer Jasmin, Roa Pedro, Laccone Franco, Kluge Britta, Tichy Alexander, De Almeida Ribeiro Euripedes, Prohaska Rainer, Stoeter Peter, Siegl Claudia, Salzer Ulri |
High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. Neurobiology of aging 2015 May 36 (5): 2004.e9-2004.e15. Nishioka Kenya, Oyama Genko, Yoshino Hiroyo, Li Yuanzhe, Matsushima Takashi, Takeuchi Chisen, Mochizuki Yoko, Mori-Yoshimura Madoka, Murata Miho, Yamasita Chikara, Nakamura Norimichi, Konishi Yohei, Ohi Kazuki, Ichikawa Keiji, Terada Tatsuhiro, Obi Tomokazu, Funayama Manabu, Saiki Shinji, Hattori Nobuta |
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 |
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. Journal of the neurological sciences 2015 1 349 (1-2): 105-9. Tschentscher Anne, Dekomien Gabriele, Ross Sophia, Cremer Kirsten, Kukuk Guido M, Epplen Jörg T, Hoffjan Sabi |
[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 |
Prognostic significance of the PANK family expression in acute myeloid leukemia. Annals of translational medicine 2019 7 7 (12): 261. Liu Yan, Cheng Zhiheng, Li Qihui, Pang Yifan, Cui Longzhen, Qian Tingting, Quan Liang, Dai Yifeng, Jiao Yang, Zhang Zhihui, Ye Xu, Shi Jinlong, Fu L |
Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 5 66 187-190. Sakpichaisakul Kullasate, Saengow Vitchayaporn E, Suwanpratheep Papit, Rongnoparat Kanokpan, Panthan Bhakbhoom, Trachoo Objo |
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 |
Comment on "A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome". Journal of movement disorders 2021 4 14 (3): 254-255. Walker Ruth Helen, Hegele Robert Alexander, Danek Adri |
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 |
Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation. Parkinsonism & related disorders 2024 4 123 106103. Rubens Paulo Araújo Salomão, Flávio Moura Rezende Filho, Vanderci Borges, Manju A Kurian, Henrique Ballalai Ferraz, Guido J Breedveld, Vincenzo Bonifati, Orlando G Barsottini, José Luiz Pedro |
Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India. Parkinsonism & related disorders 2024 1 120 105986. Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar P |
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- Page last updated:Apr 22, 2024
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