Human Genome Epidemiology Literature Finder

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Records 1 - 5 (of 5 Records)

Query Trace: Ataxia and STUB1[original query]
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, Similar articles in PubMed
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. European journal of neurology 2019 10 27 (3): 498-505. Lieto M, Riso V, Galatolo D, De Michele G, Rossi S, Barghigiani M, Cocozza S, Pontillo G, Trovato R, Saccà F, Salvatore E, Tessa A, Filla A, Santorelli F M, De Michele G, Silvestri Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed