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343 results for Parkinsonian+Disorders+-+genetics

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DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
Author / Creator:Camargos, Sarah ; Scholz, Sonja ; Simón-Sánchez, Javier ; Paisán-Ruiz, Coro ; Lewis, Patrick ; Hernandez, Dena ; Ding, Jinhui ; Gibbs, J Raphael ; Cookson, Mark R ; Bras, Jose ; Guerreiro, Rita ; Oliveira, Catarina Resende ; Lees, Andrew ; Hardy, John ; Cardoso, Francisco ; Singleton, Andrew B
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2008-03, Vol.7 (3), p.207-215
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Rapid-onset dystonia-parkinsonism: case report
Author / Creator:Svetel, Marina ; Ozelius, Laurie J. ; Buckley, Amber ; Lohmann, Katja ; Brajković, Lela ; Klein, Christine ; Kostić, Vladimir S.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of neurology, 2010-03, Vol.257 (3), p.472-474
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The link between the GBA gene and parkinsonism
Author / Creator:Sidransky, Ellen ; Lopez, Grisel
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2012-11, Vol.11 (11), p.986-998
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FTH1 Inhibits Ferroptosis Through Ferritinophagy in the 6-OHDA Model of Parkinson's Disease
Author / Creator:Tian, Ye ; Lu, Juan ; Hao, Xiaoqian ; Li, Hang ; Zhang, Guiyu ; Liu, Xuelei ; Li, Xinrong ; Zhao, Caiping ; Kuang, Weihong ; Chen, Dongfeng ; Zhu, Meiling
Publisher:Cham: Elsevier Inc
Journal title:Neurotherapeutics, 2020-10, Vol.17 (4), p.1796-1812
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MAPT mutations, tauopathy, and mechanisms of neurodegeneration
Author / Creator:Strang, Kevin H. ; Golde, Todd E. ; Giasson, Benoit I.
Publisher:New York: Elsevier Inc
Journal title:Laboratory investigation, 2019-07, Vol.99 (7), p.912-928
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Mechanism of phospho-ubiquitin-induced PARKIN activation
Author / Creator:Wauer, Tobias ; Simicek, Michal ; Schubert, Alexander ; Komander, David
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2015-08, Vol.524 (7565), p.370-374
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CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study
Author / Creator:Funayama, Manabu ; Ohe, Kenji ; Amo, Taku ; Furuya, Norihiko ; Yamaguchi, Junji ; Saiki, Shinji ; Li, Yuanzhe ; Ogaki, Kotaro ; Ando, Maya ; Yoshino, Hiroyo ; Tomiyama, Hiroyuki ; Nishioka, Kenya ; Hasegawa, Kazuko ; Saiki, Hidemoto ; Satake, Wataru ; Mogushi, Kaoru ; Sasaki, Ryogen ; Kokubo, Yasumasa ; Kuzuhara, Shigeki ; Toda, Tatsushi ; Mizuno, Yoshikuni ; Uchiyama, Yasuo ; Ohno, Kinji ; Hattori, Nobutaka
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2015-03, Vol.14 (3), p.274-282
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Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson’s disease pathogenesis
Author / Creator:Carballo-Carbajal, Iria ; Laguna, Ariadna ; Romero-Giménez, Jordi ; Cuadros, Thais ; Bové, Jordi ; Martinez-Vicente, Marta ; Parent, Annabelle ; Gonzalez-Sepulveda, Marta ; Peñuelas, Núria ; Torra, Albert ; Rodríguez-Galván, Beatriz ; Ballabio, Andrea ; Hasegawa, Takafumi ; Bortolozzi, Analía ; Gelpi, Ellen ; Vila, Miquel
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-03, Vol.10 (1), p.973-19, Article 973
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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Author / Creator:Tuschl, Karin ; Meyer, Esther ; Valdivia, Leonardo E. ; Zhao, Ningning ; Dadswell, Chris ; Abdul-Sada, Alaa ; Hung, Christina Y. ; Simpson, Michael A. ; Chong, W. K. ; Jacques, Thomas S. ; Woltjer, Randy L. ; Eaton, Simon ; Gregory, Allison ; Sanford, Lynn ; Kara, Eleanna ; Houlden, Henry ; Cuno, Stephan M. ; Prokisch, Holger ; Valletta, Lorella ; Tiranti, Valeria ; Younis, Rasha ; Maher, Eamonn R. ; Spencer, John ; Straatman-Iwanowska, Ania ; Gissen, Paul ; Selim, Laila A. M. ; Pintos-Morell, Guillem ; Coroleu-Lletget, Wifredo ; Mohammad, Shekeeb S. ; Yoganathan, Sangeetha ; Dale, Russell C. ; Thomas, Maya ; Rihel, Jason ; Bodamer, Olaf A. ; Enns, Caroline A. ; Hayflick, Susan J. ; Clayton, Peter T. ; Mills, Philippa B. ; Kurian, Manju A. ; Wilson, Stephen W.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2016-05, Vol.7 (1), p.11601-16, Article 11601
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Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study
Author / Creator:Wilson, Heather ; Dervenoulas, George ; Pagano, Gennaro ; Koros, Christos ; Yousaf, Tayyabah ; Picillo, Marina ; Polychronis, Sotirios ; Simitsi, Athina ; Giordano, Beniamino ; Chappell, Zachary ; Corcoran, Benjamin ; Stamelou, Maria ; Gunn, Roger N ; Pellecchia, Maria Teresa ; Rabiner, Eugenii A ; Barone, Paolo ; Stefanis, Leonidas ; Politis, Marios
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2019-08, Vol.18 (8), p.748-759
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Deficits in dopaminergic transmission precede neuron loss and dysfunction in a new Parkinson model
Author / Creator:Janezic, Stephanie ; Threlfell, Sarah ; Dodson, Paul D. ; Dowie, Megan J. ; Taylor, Tonya N. ; Potgieter, Dawid ; Parkkinen, Laura ; Senior, Steven L. ; Anwar, Sabina ; Ryan, Brent ; Deltheil, Thierry ; Kosillo, Polina ; Cioroch, Milena ; Wagner, Katharina ; Ansorge, Olaf ; Bannerman, David M. ; Bolam, J. Paul ; Magill, Peter J. ; Cragg, Stephanie J. ; Wade-Martins, Richard
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2013-10, Vol.110 (42), p.E4016-E4025
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A mutational atlas for Parkin proteostasis
Author / Creator:Clausen, Lene ; Voutsinos, Vasileios ; Cagiada, Matteo ; Johansson, Kristoffer E. ; Grønbæk-Thygesen, Martin ; Nariya, Snehal ; Powell, Rachel L. ; Have, Magnus K. N. ; Oestergaard, Vibe H. ; Stein, Amelie ; Fowler, Douglas M. ; Lindorff-Larsen, Kresten ; Hartmann-Petersen, Rasmus
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-02, Vol.15 (1), p.1541-17, Article 1541
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Altered ceramide metabolism is a feature in the extracellular vesicle-mediated spread of alpha-synuclein in Lewy body disorders
Author / Creator:Kurzawa-Akanbi, Marzena ; Tammireddy, Seshu ; Fabrik, Ivo ; Gliaudelytė, Lina ; Doherty, Mary K. ; Heap, Rachel ; Matečko-Burmann, Irena ; Burmann, Björn M. ; Trost, Matthias ; Lucocq, John M. ; Gherman, Anda V. ; Fairfoul, Graham ; Singh, Preeti ; Burté, Florence ; Green, Alison ; McKeith, Ian G. ; Härtlova, Anetta ; Whitfield, Phillip D. ; Morris, Christopher M.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2021-12, Vol.142 (6), p.961-984
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The role of the LRRK2 gene in Parkinsonism
Author / Creator:Li, Jie-Qiong ; Tan, Lan ; Yu, Jin-Tai
Publisher:London: BioMed Central
Journal title:Molecular neurodegeneration, 2014-11, Vol.9 (1), p.47-47, Article 47
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Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing
Author / Creator:Jia, Fangzhi ; Fellner, Avi ; Kumar, Kishore Raj
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-03, Vol.13 (3), p.471
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A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism
Author / Creator:Edvardson, Simon ; Cinnamon, Yuval ; Ta-Shma, Asaf ; Shaag, Avraham ; Yim, Yang-In ; Zenvirt, Shamir ; Jalas, Chaim ; Lesage, Suzanne ; Brice, Alexis ; Taraboulos, Albert ; Kaestner, Klaus H. ; Greene, Lois E. ; Elpeleg, Orly
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-05, Vol.7 (5), p.e36458
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C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy
Author / Creator:Cali, Christopher P. ; Patino, Maribel ; Tai, Yee Kit ; Ho, Wan Yun ; McLean, Catriona A. ; Morris, Christopher M. ; Seeley, William W. ; Miller, Bruce L. ; Gaig, Carles ; Vonsattel, Jean Paul G. ; White, Charles L. ; Roeber, Sigrun ; Kretzschmar, Hans ; Troncoso, Juan C. ; Troakes, Claire ; Gearing, Marla ; Ghetti, Bernardino ; Van Deerlin, Vivianna M. ; Lee, Virginia M.-Y. ; Trojanowski, John Q. ; Mok, Kin Y. ; Ling, Helen ; Dickson, Dennis W. ; Schellenberg, Gerard D. ; Ling, Shuo-Chien ; Lee, Edward B.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2019-11, Vol.138 (5), p.795-811
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Wnt/β-Catenin Signaling Pathway Governs a Full Program for Dopaminergic Neuron Survival, Neurorescue and Regeneration in the MPTP Mouse Model of Parkinson’s Disease
Author / Creator:Marchetti, Bianca
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2018-11, Vol.19 (12), p.3743
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The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review
Author / Creator:Huang Xiu-Rong ; Bei-Sha, Tang ; Peng, Jin ; Ji-Feng, Guo
Publisher:Totowa: Springer Nature B.V
Journal title:Molecular neurobiology, 2022-01, Vol.59 (1), p.523-534
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Brain Dopamine–Serotonin Vesicular Transport Disease and Its Treatment
Author / Creator:Rilstone, Jennifer J ; Alkhater, Reem A ; Minassian, Berge A
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2013-02, Vol.368 (6), p.543-550
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DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

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Rapid-onset dystonia-parkinsonism: case report

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The link between the GBA gene and parkinsonism

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FTH1 Inhibits Ferroptosis Through Ferritinophagy in the 6-OHDA Model of Parkinson's Disease

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MAPT mutations, tauopathy, and mechanisms of neurodegeneration

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Mechanism of phospho-ubiquitin-induced PARKIN activation

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CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

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Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson’s disease pathogenesis

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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

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Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study

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Deficits in dopaminergic transmission precede neuron loss and dysfunction in a new Parkinson model

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A mutational atlas for Parkin proteostasis

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Altered ceramide metabolism is a feature in the extracellular vesicle-mediated spread of alpha-synuclein in Lewy body disorders

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The role of the LRRK2 gene in Parkinsonism

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Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing

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A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

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C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

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Wnt/β-Catenin Signaling Pathway Governs a Full Program for Dopaminergic Neuron Survival, Neurorescue and Regeneration in the MPTP Mouse Model of Parkinson’s Disease

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The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review

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Brain Dopamine–Serotonin Vesicular Transport Disease and Its Treatment

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