Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 16 (of 16 Records) |
| Query Trace: Neurodegeneration With Brain Iron Accumulation[original query] |
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| 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 |
| Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology 2008 Oct 71 (18): 1402-9. Gregory A, Westaway S K, Holm I E, Kotzbauer P T, Hogarth P, Sonek S, Coryell J C, Nguyen T M, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick S |
| HFE gene mutations in a population of Italian Parkinson's disease patients. Parkinsonism & related disorders 2008 14 (5): 426-30. Biasiotto Giorgio, Goldwurm Stefano, Finazzi Dario, Tunesi Sara, Zecchinelli Anna, Sironi Francesca, Pezzoli Gianni, Arosio Pao |
| The PLA2G6 gene in early-onset Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society 2011 Nov 26 (13): 2415-7. Kauther Kai Michael, Höft Christine, Rissling Ida, Oertel Wolfgang H, Möller Jens Carst |
| Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neuroscience letters 2012 Aug 523 (1): 35-8. Kruer Michael C, Paudel Reema, Wagoner Wendy, Sanford Lynn, Kara Eleanna, Gregory Allison, Foltynie Tom, Lees Andrew, Bhatia Kailash, Hardy John, Hayflick Susan J, Houlden Hen |
| Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease. Parkinsonism & related disorders 2012 Nov . Gui YX, Xu ZP, Liu HM, Zhao JJ, Hu XY |
| 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 |
| 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 |
| 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 and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement. Frontiers in neurology 2022 10 13 1005670. Lan Min-Yu, Lu Chin-Song, Wu Shey-Lin, Chen Ying-Fa, Sung Yueh-Feng, Tu Min-Chien, Chang Yung-Y |
| PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran. Iranian journal of basic medical sciences 2022 1 24 (9): 1190-1195. Jafarzadeh Esfehani Reza, Eslahi Atieh, Beiraghi Toosi Mehran, Sadr-Nabavi Ariane, Kerachian Mohammad Amin, Asl Mohajeri Mahsa Sadat, Farjami Mahsa, Alizade Farzaneh, Mojarrad Maj |
| A systematic analysis of genotype-phenotype associations with PLA2G6. Parkinsonism & related disorders 2023 6 112 105477. Jian Xue, Dong-Xue Ding, Guang-Yu Xu, Pu-Zhi Wang, Yi-Lun Ge, Jin-Ru Zhang, Xiao-Yu Cheng, Yi-Ming Wang, Hong Jin, Si-Yang Luo, Yu-Han Zheng, Jing Chen, Fen Wang, Dan Li, Cheng-Jie Mao, Kai Li, Chun-Feng L |
| Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson's disease. NPJ Parkinson's disease 2023 4 9 (1): 54. Alvarez Jerez Pilar, Alcantud Jose Luis, de Los Reyes-Ramírez Lucia, Moore Anni, Ruz Clara, Vives Montero Francisco, Rodriguez-Losada Noela, Saini Prabhjyot, Gan-Or Ziv, Alvarado Chelsea X, Makarious Mary B, Billingsley Kimberley J, Blauwendraat Cornelis, Noyce Alastair J, Singleton Andrew B, Duran Raquel, Bandres-Ciga Sa |
| 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 |
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