Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Huntington Disease and C9orf72[original query] |
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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology 2014 Jan 82 (4): 292-9. Hensman Moss Davina J, Poulter Mark, Beck Jon, Hehir Jason, Polke James M, Campbell Tracy, Adamson Garry, Mudanohwo Ese, McColgan Peter, Haworth Andrea, Wild Edward J, Sweeney Mary G, Houlden Henry, Mead Simon, Tabrizi Sarah |
C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population. Neurobiology of aging 2015 Jan 36 (1): 547.e13-6. Koutsis Georgios, Karadima Georgia, Kartanou Chrisoula, Kladi Athina, Panas Mari |
C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome. Journal of neurology 2014 Oct 261 (10): 1917-21. Kosti? Vladimir S, Dobri?i? Valerija, Stankovi? Iva, Rali? Vesna, Stefanova El |
A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci. Journal of the neurological sciences 2018 Jul 390 200-204. Baine Fiona K, Peerbhai Nabeelah, Krause Aman |
C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing. Neuro-degenerative diseases 2018 10 18 (5-6): 239-253. Ida Cristiane M, Butz Malinda L, Lundquist Patrick A, Dawson D Bri |
Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data. Tremor and other hyperkinetic movements (New York, N.Y.) 2020 8 10 5. Rikos Dimitrios, Marogianni Chrysoula, Provatas Antonios, Bourinaris Thomas, Arnaoutoglou Marianthi, Stathis Pantelis, Patrinos George P, Dardiotis Efthimios, Hadjigeorgiou George M, Xiromerisiou Georg |
Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population. Journal of the neurological sciences 2022 10 442 120450. Kartanou Chrisoula, Kontogeorgiou Zoi, Rentzos Michail, Potagas Constantin, Aristeidou Stavroula, Kapaki Elisabeth, Paraskevas George P, Constantinides Vasilios C, Stefanis Leonidas, Papageorgiou Sokratis G, Houlden Henry, Panas Marios, Koutsis Georgios, Karadima Georg |
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 |
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