Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: Ataxia and SPG7[original query] |
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A founder mutation p.H701P identified as a major cause of SPG7 in Norway. European journal of neurology 2016 Jan . Rydning S L, Wedding I M, Koht J, Chawla M, Øye A-M, Sheng Y, Vigeland M D, Selmer K K, Tallaksen C M |
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain : a journal of neurology 2017 Jun 140 (6): 1579-1594. Coutelier Marie, Coarelli Giulia, Monin Marie-Lorraine, Konop Juliette, Davoine Claire-Sophie, Tesson Christelle, Valter Rémi, Anheim Mathieu, Behin Anthony, Castelnovo Giovanni, Charles Perrine, David Albert, Ewenczyk Claire, Fradin Mélanie, Goizet Cyril, Hannequin Didier, Labauge Pierre, Riant Florence, Sarda Pierre, Sznajer Yves, Tison François, Ullmann Urielle, Van Maldergem Lionel, Mochel Fanny, Brice Alexis, Stevanin Giovanni, Durr Alexandra, |
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genetics in medicine : official journal of the American College of Medical Genetics 2018 6 21 (1): 195-206. Sun Miao, Johnson Amy Knight, Nelakuditi Viswateja, Guidugli Lucia, Fischer David, Arndt Kelly, Ma Lan, Sandford Erin, Shakkottai Vikram, Boycott Kym, Warman-Chardon Jodi, Li Zejuan, Del Gaudio Daniela, Burmeister Margit, Gomez Christopher M, Waggoner Darrel J, Das So |
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications. Parkinsonism & related disorders 2020 9 80 58-64. Kim Minkyeong, Kim Ah Reum, Kim Ji Sun, Park Jongkyu, Youn Jinyoung, Ahn Jong Hyeon, Mun Jun Kyu, Lee Chung, Kim Nam-Soon, Kim Nayoung K D, Park Woong-Yang, Cho Jin Wh |
Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort. Journal of neurology 2021 3 268 (10): 3897-3907. Bogdanova-Mihaylova Petya, Chen Hongying, Plapp Helena Maria, Gorman Ciara, Alexander Michael D, McHugh John C, Moran Sharon, Early Anne, Cassidy Lorraine, Lynch Timothy, Murphy Sinéad M, Walsh Richard |
Molecular epidemiology of hereditary ataxia in Finland. BMC neurology 2021 10 21 (1): 382. Lipponen Joonas, Helisalmi Seppo, Raivo Joose, Siitonen Ari, Doi Hiroshi, Rusanen Harri, Lehtilahti Maria, Ryytty Mervi, Laakso Markku, Tanaka Fumiaki, Majamaa Kari, Kytövuori Lau |
Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2021 1 48 (5): 655-665. Haj Salem Ikhlass, Beaudin Marie, Stumpf Monica, Estiar Mehrdad A, Côté Pierre-Olivier, Brunet Francis, Gamache Pierre-Luc, Rouleau Guy A, Mourabit-Amari Karim, Gan-Or Ziv, Dupré Nicol |
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Neurology. Genetics 2022 12 8 (6): e200038. Baviera-Muñoz Raquel, Carretero-Vilarroig Lidón, Vázquez-Costa Juan Francisco, Morata-Martínez Carlos, Campins-Romeu Marina, Muelas Nuria, Sastre-Bataller Isabel, Martínez-Torres Irene, Pérez-García Julia, Sivera Rafael, Sevilla Teresa, Vilchez Juan J, Jaijo Teresa, Espinós Carmen, Millán Jose M, Bataller Luis, Aller Ele |
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 11 44 (3): 947-959. Fereshtehnejad Seyed-Mohammad, Saleh Philip A, Oliveira Lais M, Patel Neha, Bhowmick Suvorit, Saranza Gerard, Kalia Lorraine |
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia. Frontiers in neurology 2023 9 14 1239725. Amokelani C Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A Wilson, Jana Vandrovcova, Mary M Reilly, Christopher J Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M Heckma |
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 |
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency. Neurology. Genetics 2023 4 9 (2): e200058. Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F R Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P Comi, Catarina Maria Quinzii, Alessio Di Fon |
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- Page last updated:Mar 25, 2024
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