Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 208 Records) |
| Query Trace: Spinocerebellar Ataxia 2[original query] |
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| Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia. Frontiers in neurology 2022 5 13 872927. Shi Yuzhi, Wang An, Chen Bin, Wang Xingao, Niu Songtao, Li Wei, Li Shaowu, Zhang Zaiqia |
| Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. European journal of neurology 2023 8 . Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albajar, Elisabet Mondragón, Ana Vinagre, Roberto Fernández-Torrón, Fermín Moreno, Jon Equiza, David Campo-Caballero, Juan José Poza, Marta Ruibal, Alessandro Formica, Marie-Josée Dicaire, Matt C Danzi, Stephan Zuchner, Ioana Croitoru, Montserrat Ruiz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munain, Javier Ruiz-Martín |
| Coexistence of multiple sclerosis and spinocerebellar ataxia type-8. Multiple sclerosis (Houndmills, Basingstoke, England) 2023 7 13524585231180549. Nur Neyal, B Mark Keegan, Orhun H Kantarci, Burcu Zeyd |
| Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders. Journal of the neurological sciences 2023 6 451 120707. Martin Paucar, José Laffita-Mesa, Valter Niemelä, Helena Malmgren, Inger Nennesmo, Kristina Lagerstedt-Robinson, Magnus Nordenskjöld, Per Svenningss |
| Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans. Genome research 2023 6 33 (3): 435-447. Kohei Hamanaka, Daisuke Yamauchi, Eriko Koshimizu, Kei Watase, Kaoru Mogushi, Kinya Ishikawa, Hidehiro Mizusawa, Naomi Tsuchida, Yuri Uchiyama, Atsushi Fujita, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumo |
| The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China. NPJ Parkinson's disease 2023 5 9 (1): 76. Yi-Min Sun, Xin-Yue Zhou, Xiao-Niu Liang, Jin-Ran Lin, Yi-Dan Xu, Chen Chen, Si-Di Wei, Qi-Si Chen, Feng-Tao Liu, Jue Zhao, Yi-Lin Tang, Bo Shen, Lin-Hua Gan, Boxun Lu, Zheng-Tong Ding, Yu An, Jian-Jun Wu, Jian Wa |
| The Y831C Mutation of the POLG Gene in Dementia. Biomedicines 2023 5 11 (4): . Eugenia Borgione, Mariangela Lo Giudice, Sandro Santa Paola, Marika Giuliano, Giuseppe Lanza, Mariagiovanna Cantone, Raffaele Ferri, Carmela Scude |
| Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 2023 2 . Nanetti Lorenzo, Magri Stefania, Fichera Mario, Castaldo Anna, Nigri Anna, Pinardi Chiara, Mongelli Alessia, Sarro Lidia, Pareyson Davide, Grisoli Marina, Gellera Cinzia, Di Bella Daniela, Mariotti Caterina, Taroni Fran |
| Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia. Neurology. Genetics 2023 12 9 (1): e200050. Fatemeh Ghorbani, Eddy N de Boer, Marloes Benjamins-Stok, Corien C Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J de Vries, Birgit Sikkema-Raddatz, Dineke S Verbeek, Helga Westers, Cleo C van Diem |
| Incidence of different pressure patterns of spinal cerebellar ataxia and analysis of imaging and genetic diagnosis. Open life sciences 2023 12 18 (1): 20220762. Yufen Peng, Qi Tu, Yao Han, Liang Gao, Chenyi W |
| Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing. Neurobiology of disease 2023 12 106367. Kizito-Tshitoko Tshilenge, Joanna Bons, Carlos Galicia Aguirre, Cristian Geronimo-Olvera, Samah Shah, Jacob Rose, Akos A Gerencser, Sally K Mak, Michelle E Ehrlich, D Cristopher Bragg, Birgit Schilling, Lisa M Eller |
| Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population. Brain communications 2023 10 5 (5): fcad244. Tanya Lam, Clarissa Rocca, Kristina Ibanez, Anupriya Dalmia, Samuel Tallman, Marios Hadjivassiliou, Anke Hensiek, Andrea Nemeth, Stefano Facchini, , Nicholas Wood, Andrea Cortese, Henry Houlden, Arianna Tuc |
| Altered binaural hearing in pre-ataxic and ataxic mutation carriers of spinocerebellar ataxia type 3. Cerebellum (London, England) 2023 1 . Jacobi Heike, Andermann Martin, Faber Jennifer, Baumann Felicitas, Rupp And |
| [Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2024 9 124 (8): 32-38. E P Nuzhnyi, A O Protopopova, N Yu Abramycheva, A R Protsenko, S N Illarioshk |
| Spinocerebellar ataxia type 10 and Huntington disease-like 2 in Venezuela: Further evidence of two different ancestral founder effects. Annals of human genetics 2024 8 . Irene Paradisi, Sergio Arias, Vassiliki Ikono |
| Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis. European journal of neurology 2024 8 e16441. Xu-Ying Li, Hong Lai, Xian Li, Fanxi Xu, Yang Song, Zhanjun Wang, Qibin Li, Ruichai Lin, Zhiheng Xu, Chaodong Wa |
| The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. Acta neuropathologica 2024 8 148 (1): 14. Jonasz J Weber, Leah Czisch, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana D Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Jorge Sequeiros, Guy A Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, Marcondes C França, Carlos R Gordon, Roy Zaltzman, Mario R Cornejo-Olivas, Bart P C van de Warrenburg, Alexandra Durr, Alexis Brice, Peter Bauer, Thomas Klockgether, Ludger Schöls, Olaf Riess, , Thorsten Schmi |
| Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin. Neurogenetics 2024 7 . Tiyasha De, Pooja Sharma, Bharathram Upilli, A Vivekanand, Shreya Bari, Akhilesh Kumar Sonakar, Achal Kumar Srivastava, Mohammed Far |
| STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8. Movement disorders : official journal of the Movement Disorder Society 2024 7 . Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Ana Pedro-Ibor, Teresa Jaijo, Andrea Del Valle-Carranza, Irene Martínez-Torres, Jose M Millán, Luis Bataller, Elena All |
| Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders. Human genome variation 2024 6 11 (1): 25. Varun Suroliya, Bharathram Uppili, Manish Kumar, Vineet Jha, Achal K Srivastava, Mohammed Far |
| Psychometric Validation of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) in Patients With Spinocerebellar Ataxia. Cerebellum (London, England) 2024 6 . Michele Potashman, Evan Popoff, Lauren Powell, Ainsley Mackenzie, Melissa Wolfe Beiner, Vlad Coric, Jeremy Schmahmann, Gilbert L'Itali |
| Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia. Journal of human genetics 2024 6 . Ze-Hong Zheng, Chun-Yan Cao, Bi Cheng, Ru-Ying Yuan, Yi-Heng Zeng, Zhang-Bao Guo, Yu-Sen Qiu, Wen-Qi Lv, Hui Liang, Jin-Lan Li, Wei-Xiong Zhang, Min-Kun Fang, Yu-Hao Sun, Wei Lin, Jing-Mei Hong, Shi-Rui Gan, Ning Wang, Wan-Jin Chen, Gan-Qin Du, Ling Fa |
| Apolipoprotein E epsilon4 allele is associated with better performance language and visual memory in spinocerebellar ataxia type 3. European journal of neurology 2024 12 32 (1): e70017. Xuanyu Chen, Kunxin Lin, Zhixian Ye, Liangliang Qiu, Yusen Qiu, Ruying Yuan, Xintong Yu, Chunyu Huang, Bi Cheng, Wei Lin, Tianmin Lai, Wanjin Chen, Ning Wang, Shirui Gan, Qiuni Su, Ying Fu, |
| Genetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China. Movement disorders : official journal of the Movement Disorder Society 2024 12 . Lijing Lei, Linliu Peng, Linlin Wan, Zhao Chen, Chunrong Wang, Huirong Peng, Rong Qiu, Beisha Tang, Hong Jia |
| The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND. Genetics in medicine : official journal of the American College of Medical Genetics 2024 12 101337. Leila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, Najlae Boulali, Karine Siquier-Pernet, Alexandra Afenjar, Jeanne Amiel, Deborah Bartholdi, Magalie Barth, Eléonore Blondiaux, Ingrid Cristian, Zoe Frazier, Alice Goldenberg, Jean-Marc Good, Catherine Lourdes Salussolia, Mustafa Sahin, Helen McCullagh, Kimberly McDonald, Anne McRae, Jennifer Morrison, Jason Pinner, Marwan Shinawi, Annick Toutain, Emílie Vyhnálková, Patricia G Wheeler, Yael Wilnai, Moran Hausman-Kedem, Marion Coolen, Vincent Cantagrel, Lydie Burglen, Philippe Lo |
| Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3. Journal of neurology 2024 12 272 (1): 54. Tim Lukas Elter, Daniel Sturm, Magda M Santana, Tamara Schaprian, Mafalda Raposo, Ana Rosa Vieira Melo, Manuela Lima, Berkan Koyak, Demet Oender, Marcus Grobe-Einsler, Sara Lopes, Patrick Silva, Luís Pereira de Almeida, Paola Giunti, Hector Garcia-Moreno, Suran Nethisinhe, Jeroen de Vries, Bart P van de Warrenburg, Judith van Gaalen, Matthis Synofzik, Ludger Schöls, Kathrin Reetz, Friedrich Erdlenbruch, Heike Jacobi, Jon Infante, Olaf Riess, Thomas Klockgether, , Jennifer Faber, Jeannette Hübener-Schm |
| Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1). Molecular biology reports 2024 11 52 (1): 7. Riaz Ahmad, Filza Sayyad, Muhammad Naeem, Henry Hould |
| Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease. Human genetics 2024 10 . Ahmed M Sidky, Ana Rosa Vieira Melo, Teresa T Kay, Mafalda Raposo, Manuela Lima, Darren G Monckt |
| Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia. International journal of molecular sciences 2024 10 25 (20): . Fatemeh Ghorbani, Eddy N de Boer, Michiel R Fokkens, Jelkje de Boer-Bergsma, Corien C Verschuuren-Bemelmans, Elles Wierenga, Hamidreza Kasaei, Daan Noordermeer, Dineke S Verbeek, Helga Westers, Cleo C van Diem |
| Spinocerebellar ataxia type 2 has multiple ancestral origins. Parkinsonism & related disorders 2024 1 120 105985. Lucas Schenatto Sena, Gabriel Vasata Furtado, José Luiz Pedroso, Orlando Barsottini, Mario Cornejo-Olivas, Paulo Ribeiro Nóbrega, Pedro Braga Neto, Danyela Martins Bezerra Soares, Fernando Regla Vargas, Clecio Godeiro, Paula Frassinetti Vasconcelos de Medeiros, Claudia Camejo, Maria Betania Pereira Toralles, Nelson Jurandi Rosa Fagundes, Laura Bannach Jardim, Maria Luiza Saraiva-Pereira, |
- Page last reviewed:Feb 1, 2024
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