Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 15 (of 15 Records) |
Query Trace: Friedreich Ataxia[original query] |
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Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland. Human genetics 2002 1 110 (1): 36-40. Juvonen Vesa, Kulmala Satu-Maria, Ignatius Jaakko, Penttinen Maila, Savontaus Marja-Lii |
Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India. Annals of human genetics 2004 May 68 (Pt 3): 189-95. Chattopadhyay B, Gupta S, Gangopadhyay P K, Das S K, Roy T, Mukherjee S C, Sinha K K, Singhal B S, Bhattacharyya N |
Predictors of progression in patients with Friedreich ataxia. Movement disorders : official journal of the Movement Disorder Society 2008 Oct 23 (14): 2026-32. La Pean Alison, Jeffries Neal, Grow Chelsea, Ravina Bernard, Di Prospero Nicholas |
A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. Journal of molecular and cellular cardiology 2011 Nov 51 (5): 848-54. Kelly Matthew, Bagnall Richard D, Peverill Roger E, Donelan Lesley, Corben Louise, Delatycki Martin B, Semsarian Christoph |
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Movement disorders : official journal of the Movement Disorder Society 2012 Mar 27 (3): 442-6. Fogel Brent L, Lee Ji Yong, Lane Jessica, Wahnich Amanda, Chan Sandy, Huang Alden, Osborn Greg E, Klein Eric, Mamah Catherine, Perlman Susan, Geschwind Daniel H, Coppola Giovan |
Friedreich ataxia: executive control is related to disease onset and GAA repeat length. Cerebellum (London, England) 2014 Feb 13 (1): 9-16. Nachbauer Wolfgang, Bodner Thomas, Boesch Sylvia, Karner Elfriede, Eigentler Andreas, Neier Lisa, Benke Thomas, Delazer Margare |
Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia. PloS one 2013 8 (1): 1. Bandiera S, Cartault F, Jannot AS, Hatem E, Girard M, Rifai L, Loiseau C, Munnich A, Lyonnet S, Henrion-Caude A |
HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia. Movement disorders : official journal of the Movement Disorder Society 2014 Jun 29 (7): 940-3. Delatycki Martin B, Tai Geneieve, Corben Louise, Yiu Eppie M, Evans-Galea Marguerite V, Stephenson Sarah E M, Gurrin Lyle, Allen Katrina J, Lynch David, Lockhart Paul |
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. BMC medical genetics 2015 16 36. Hamza Wahiba, Ali Pacha Lamia, Hamadouche Tarik, Muller Jean, Drouot Nathalie, Ferrat Farida, Makri Samira, Chaouch Malika, Tazir Meriem, Koenig Michel, Benhassine Tra |
Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil. Cerebellum (London, England) 2018 Jun . Fussiger Helena, Saraiva-Pereira Maria Luiza, Leistner-Segal Sandra, Jardim Laura Banna |
Depressive symptoms in Friedreich ataxia. International journal of clinical and health psychology : IJCHP 2018 11 18 (1): 18-26. Nieto Antonieta, Hernández-Torres Atteneri, Pérez-Flores Javier, Montón Fernan |
Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience. Cerebellum (London, England) 2019 Jun . Peluzzo Thiago Mazzo, Bonadia Luciana Cardoso, Donatti Amanda, Molck Miriam Coelho, Jardim Laura Bannach, Marques Wilson, Lopes-Cendes Iscia Teresinha, França Marcondes |
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 |
A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia. Frontiers in molecular biosciences 2022 9 9 933788. Rodden Layne N, Rummey Christian, Dong Yi Na, Lagedrost Sarah, Regner Sean, Brocht Alicia, Bushara Khalaf, Delatycki Martin B, Gomez Christopher M, Mathews Katherine, Murray Sarah, Perlman Susan, Ravina Bernard, Subramony S H, Wilmot George, Zesiewicz Theresa, Bolotta Alessandra, Domissy Alain, Jespersen Christine, Ji Baohu, Soragni Elisabetta, Gottesfeld Joel M, Lynch David |
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 |
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