Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 137 Records) |
Query Trace: Multiple System Atrophy[original query] |
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Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy. Gene 2019 Aug 144037. Procopio Radha, Gagliardi Monica, Brighina Laura, Nicoletti Giuseppe, Morelli Maurizio, Ferrarese Carlo, Annesi Grazia, Quattrone Al |
Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy. Annals of neurology 2020 9 88 (6): 1132-1143. Wan Linlin, Chen Zhao, Wan Na, Liu Mingjie, Xue Jin, Chen Hongsheng, Zhang Youming, Peng Yun, Tang Zhichao, Gong Yiqing, Yuan Hongyu, Wang Shang, Deng Qi, Hou Xuan, Wang Chunrong, Peng Huirong, Shi Yuting, Peng Linliu, Lei Lijing, Duan Ranhui, Xia Kun, Qiu Rong, Shen Lu, Tang Beisha, Ashizawa Tetsuo, Jiang Ho |
Laryngeal Movement Disorders in Multiple System Atrophy: A Diagnostic Biomarker? Movement disorders : official journal of the Movement Disorder Society 2020 8 35 (12): 2174-2183. Gandor Florin, Vogel Annemarie, Claus Inga, Ahring Sigrid, Gruber Doreen, Heinze Hans-Jochen, Dziewas Rainer, Ebersbach Georg, Warnecke Tobi |
GBA variation and susceptibility to multiple system atrophy. Parkinsonism & related disorders 2020 Jun 77 64-69. Wernick Anna I, Walton Ronald L, Koga Shunsuke, Soto-Beasley Alexandra I, Heckman Michael G, Gan-Or Ziv, Ren Yingxue, Rademakers Rosa, Uitti Ryan J, Wszolek Zbigniew K, Cheshire William P, Dickson Dennis W, Ross Owen |
Intrafamilial phenotypic variation in spinocerebellar ataxia type 23. Cerebellum & ataxias 2020 6 7 7. Satoh Shunichi, Kondo Yasufumi, Ohara Shinji, Yamaguchi Tomomi, Nakamura Katsuya, Yoshida Kunihi |
Shared Metabolic Profile of Caffeine in Parkinsonian Disorders. Movement disorders : official journal of the Movement Disorder Society 2020 5 35 (8): 1438-1447. Takeshige-Amano Haruka, Saiki Shinji, Fujimaki Motoki, Ueno Shin-Ichi, Li Yuanzhe, Hatano Taku, Ishikawa Kei-Ichi, Oji Yutaka, Mori Akio, Okuzumi Ayami, Tsunemi Taiji, Daida Kensuke, Ishiguro Yuta, Imamichi Yoko, Nanmo Hisayoshi, Nojiri Shuko, Funayama Manabu, Hattori Nobuta |
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB. Neurobiology of aging 2020 Apr . Procopio Radha, Gagliardi Monica, D'Amelio Marco, Brighina Laura, Nicoletti Giuseppe, Morelli Maurizio, Bonapace Giuseppe, Quattrone Aldo, Annesi Graz |
Clinicopathologic and genetic features of multiple system atrophy with Lewy body disease. Brain pathology (Zurich, Switzerland) 2020 4 30 (4): 766-778. Koga Shunsuke, Li Fuyao, Zhao Na, Roemer Shanu F, Ferman Tanis J, Wernick Anna I, Walton Ronald L, Faroqi Ayman H, Graff-Radford Neill R, Cheshire William P, Ross Owen A, Dickson Dennis |
Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease. Frontiers in neurology 2020 11 11 570424. Leija-Salazar Melissa, Pittman Alan, Mokretar Katya, Morris Huw, Schapira Anthony H, Proukakis Christ |
Association of mitochondrial genomic background with risk of Multiple System Atrophy. Parkinsonism & related disorders 2020 Oct 81 200-204. Valentino Rebecca R, Heckman Michael G, Johnson Patrick W, Soto-Beasley Alexandra I, Walton Ronald L, Koga Shunsuke, Uitti Ryan J, Wszolek Zbigniew K, Dickson Dennis W, Ross Owen |
Contribution of Five Functional Loci of Dopamine Metabolism-Related Genes to Parkinson's Disease and Multiple System Atrophy in a Chinese Population. Frontiers in neuroscience 2020 10 14 889. Chen Yongping, Ou Ruwei, Zhang Lingyu, Gu Xiaojing, Yuan Xiaoqin, Wei Qian-Qian, Cao Bei, Zhao Bi, Wu Ying, Shang Huifa |
Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease. Movement disorders : official journal of the Movement Disorder Society 2020 10 36 (2): 449-459. Shadrin Alexey A, Mucha Sören, Ellinghaus David, Makarious Mary B, Blauwendraat Cornelis, Sreelatha Ashwin A K, Heras-Garvin Antonio, Ding Jinhui, Hammer Monia, Foubert-Samier Alexandra, Meissner Wassilios G, Rascol Olivier, Pavy-Le Traon Anne, Frei Oleksandr, O'Connell Kevin S, Bahrami Shahram, Schreiber Stefan, Lieb Wolfgang, Müller-Nurasyid Martina, Schminke Ulf, Homuth Georg, Schmidt Carsten O, Nöthen Markus M, Hoffmann Per, Gieger Christian, Wenning Gregor, , Gibbs J Raphael, Franke Andre, Hardy John, Stefanova Nadia, Gasser Thomas, Singleton Andrew, Houlden Henry, Scholz Sonja W, Andreassen Ole A, Sharma Ma |
COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population. Journal of the neurological sciences 2021 8 429 117623. Porto Kristine Joyce, Hirano Makito, Mitsui Jun, Chikada Ayaka, Matsukawa Takashi, Ishiura Hiroyuki, , Toda Tatsushi, Kusunoki Susumu, Tsuji Sho |
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort. Journal of neurology 2021 3 268 (9): 3337-3343. Montaut Solveig, Diedhiou Nadège, Fahrer Pauline, Marelli Cécilia, Lhermitte Benoit, Robelin Laura, Vincent Marie Claire, Corti Lucas, Taieb Guillaume, Gebus Odile, Rudolf Gabrielle, Tarabeux Julien, Dondaine Nicolas, Canuet Matthieu, Almeras Marilyne, Benkirane Mehdi, Larrieu Lise, Chanson Jean-Baptiste, Nadaj-Pakleza Aleksandra, Echaniz-Laguna Andoni, Cauquil Cécile, Lannes Béatrice, Chelly Jamel, Anheim Mathieu, Puccio Hélène, Tranchant Christi |
Investigating ELOVL7 coding variants in multiple system atrophy. Neuroscience letters 2021 Feb 135723. Wernick Anna I, Walton Ronald L, Soto-Beasley Alexandra I, Koga Shunsuke, Ren Yingxue, Heckman Michael G, Milanowski Lukasz M, Valentino Rebecca R, Kondru Naveen, Uitti Ryan J, Cheshire William P, Wszolek Zbigniew K, Dickson Dennis W, Ross Owen |
Association Analysis of WNT3, HLA-DRB5 and IL1R2 Polymorphisms in Chinese Patients With Parkinson's Disease and Multiple System Atrophy. Frontiers in genetics 2021 12 12 765833. Su Wei-Ming, Gu Xiao-Jing, Hou Yan-Bing, Zhang Ling-Yu, Cao Bei, Ou Ru-Wei, Wu Ying, Chen Xue-Ping, Song Wei, Zhao Bi, Shang Hui-Fang, Chen Yong-Pi |
Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy. Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2021 Jan . Wernick Anna I, Walton Ronald L, Soto-Beasley Alexandra I, Koga Shunsuke, Heckman Michael G, Valentino Rebecca R, Milanowski Lukasz M, Hoffman-Zacharska Dorota, Koziorowski Dariusz, Hassan Anhar, Uitti Ryan J, Cheshire William P, Singer Wolfgang, Wszolek Zbigniew K, Dickson Dennis W, Low Phillip A, Ross Owen |
Genetics of validated Parkinson's disease subtypes in the Oxford Discovery and Tracking Parkinson's cohorts. Journal of neurology, neurosurgery, and psychiatry 2022 Jun . Lawton Michael, Tan Manuela Mx, Ben-Shlomo Yoav, Baig Fahd, Barber Thomas, Klein Johannes C, Evetts Samuel G, Millin Stephanie, Malek Naveed, Grosset Katherine, Barker Roger A, Williams Nigel, Burn David J, Foltynie Thomas, Morris Huw R, Wood Nicholas, Grosset Donald G, Hu Michele Tao-Mi |
Mutation Screening of TFG in ?-Synucleinopathy and Amyotrophic Lateral Sclerosis. Movement disorders : official journal of the Movement Disorder Society 2022 May . Li Chunyu, Lin Junyu, Gu Xiaojing, Hou Yanbing, Liu Kuncheng, Jiang Qirui, Ou Ruwei, Wei Qianqian, Chen Xueping, Song Wei, Zhao Bi, Wu Ying, Chen Yongping, Shang Huifa |
Determinants of cognitive impairment in multiple system atrophy: Clinical and genetic study. PloS one 2022 12 17 (12): e0277798. Nasri Amina, Gharbi Alya, Sghaier Ikram, Mrabet Saloua, Souissi Amira, Gargouri Amina, Djebara Mouna Ben, Kacem Imen, Gouider Ria |
Role of Apolipoprotein E in the Clinical Profile of Atypical Parkinsonian Syndromes. Alzheimer disease and associated disorders 2022 1 36 (1): 36-43. Nasri Amina, Sghaier Ikram, Gharbi Alya, Mrabet Saloua, Ben Djebara Mouna, Gargouri Amina, Kacem Imen, Gouider Ria |
COQ2 and SNCA polymorphisms interact with environmental factors to modulate the risk of multiple system atrophy and subtype disposition. European journal of neurology 2022 Jun . Kuo Ming-Che, Lu Ying-Che, Tai Chun-Hwei, Soong Bing-Wen, Hu Fu-Chang, Chen Meng-Ling, Lin Chin-Hsien, Wu Ruey-Me |
Rapidly progressive multiple system atrophy in a patient carrying LRRK2 G2019S mutation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 9 . Tommaso Carrer, Giulia Bonato, Michele Sandre, Aron Emmi, Marta Campagnolo, Giulia Musso, Miryam Carecchio, Piero Parchi, Angelo Antoni |
The molecular spectrum of amyloid-beta (A?) in neurodegenerative diseases beyond Alzheimer's disease. Brain pathology (Zurich, Switzerland) 2023 8 e13210. Shojiro Ichimata, Koji Yoshida, Jun Li, Ekaterina Rogaeva, Anthony E Lang, Gabor G Kova |
Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy. medRxiv : the preprint server for health sciences 2023 7 . Yasuo Nakahara, Jun Mitsui, Hidetoshi Date, Kristine Joyce Porto, Yasuhiro Hayashi, Atsushi Yamashita, Yoshio Kusakabe, Takashi Matsukawa, Hiroyuki Ishiura, Tsutomu Yasuda, Atsushi Iwata, Jun Goto, Yaeko Ichikawa, Yoshio Momose, Yuji Takahashi, Tatsushi Toda, Rikifumi Ohta, Jun Yoshimura, Shinichi Morishita, Emil K Gustavsson, Darren Christy, Melissa Maczis, Matthew J Farrer, Han-Joon Kim, Sung-Sup Park, Beomseok Jeon, Jin Zhang, Weihong Gu, Sonja W Scholz, Andrew B Singleton, Henry Houlden, Ichiro Yabe, Hidenao Sasaki, Masaaki Matsushima, Hiroshi Takashima, Akio Kikuchi, Masashi Aoki, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Ken Yamamoto, Mihoko Shimada, Taku Miyagawa, Yosuke Kawai, Nao Nishida, Katsushi Tokunaga, Alexandra Dürr, Alexis Brice, Alessandro Filla, Thomas Klockgether, Ullrich Wüllner, Caroline M Tanner, Walter A Kukull, Virginia M-Y Lee, Eliezer Masliah, Phillip A Low, Paola Sandroni, Laurie Ozelius, Tatiana Foroud, Shoji Tsu |
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 |
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 |
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome. Journal of human genetics 2024 7 . Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Masaki Tanaka, Junko Nomoto, Hiroyuki Ishiura, Yosuke Omae, Yosuke Kawai, Katsushi Tokunaga, , Tatsushi Toda, Shoji Tsu |
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease. Journal of neurology 2024 6 . Annalisa Schaub, Hannes Erdmann, Veronika Scholz, Manuela Timmer, Isabell Cordts, Rene Günther, Peter Reilich, Angela Abicht, Florian Schöbe |
Genome sequence analyses identify novel risk loci for multiple system atrophy. Neuron 2024 5 . Ruth Chia, Anindita Ray, Zalak Shah, Jinhui Ding, Paola Ruffo, Masashi Fujita, Vilas Menon, Sara Saez-Atienzar, Paolo Reho, Karri Kaivola, Ronald L Walton, Regina H Reynolds, Ramita Karra, Shaimaa Sait, Fulya Akcimen, Monica Diez-Fairen, Ignacio Alvarez, Alessandra Fanciulli, Nadia Stefanova, Klaus Seppi, Susanne Duerr, Fabian Leys, Florian Krismer, Victoria Sidoroff, Alexander Zimprich, Walter Pirker, Olivier Rascol, Alexandra Foubert-Samier, Wassilios G Meissner, François Tison, Anne Pavy-Le Traon, Maria Teresa Pellecchia, Paolo Barone, Maria Claudia Russillo, Juan Marín-Lahoz, Jaime Kulisevsky, Soraya Torres, Pablo Mir, Maria Teresa Periñán, Christos Proukakis, Viorica Chelban, Lesley Wu, Yee Y Goh, Laura Parkkinen, Michele T Hu, Christopher Kobylecki, Jennifer A Saxon, Sara Rollinson, Emily Garland, Italo Biaggioni, Irene Litvan, Ileana Rubio, Roy N Alcalay, Kimberly T Kwei, Steven J Lubbe, Qinwen Mao, Margaret E Flanagan, Rudolph J Castellani, Vikram Khurana, Alain Ndayisaba, Andrea Calvo, Gabriele Mora, Antonio Canosa, Gianluca Floris, Ryan C Bohannan, Anni Moore, Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Horacio Kaufmann, Changyoun Kim, Michiyo Iba, Eliezer Masliah, Ted M Dawson, Liana S Rosenthal, Alexander Pantelyat, Marilyn S Albert, Olga Pletnikova, Juan C Troncoso, Jon Infante, Carmen Lage, Pascual Sánchez-Juan, Geidy E Serrano, Thomas G Beach, Pau Pastor, Huw R Morris, Diego Albani, Jordi Clarimon, Gregor K Wenning, John A Hardy, Mina Ryten, Eric Topol, Ali Torkamani, Adriano Chiò, David A Bennett, Philip L De Jager, Philip A Low, Wolfgang Singer, William P Cheshire, Zbigniew K Wszolek, Dennis W Dickson, Bryan J Traynor, J Raphael Gibbs, Clifton L Dalgard, Owen A Ross, Henry Houlden, Sonja W Scho |
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