Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Ataxia and HD[original query] |
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| Prevalence of Huntington disease in New South Wales in 1996. The Medical journal of Australia 2000 Aug 173 (4): 187-90. McCusker E A, Casse R F, Graham S J, Williams D B, Lazarus |
| Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases. Journal of neural transmission (Vienna, Austria : 1996) 2005 Apr 112 (4): 539-46. Wu Y R, Fung H C, Lee-Chen G J, Gwinn-Hardy K, Ro L S, Chen S T, Hsieh-Li H M, Lin H Y, Lin C Y, Li S N, Chen C |
| Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. Neurologia i neurochirurgia polska 0 42 (3): 203-9. Su?ek-Piatkowska Anna, Krysa Wioletta, Zdzienicka Elzbieta, Szirkowiec Walentyna, Hoffman-Zacharska Dorota, Rajkiewicz Marta, Fidzia?ska Elzbieta, Kowalska Grazyna, Zaremba Jac |
| Screening for FXTAS in 95 Spanish patients negative for Huntington disease. Genetic testing 2008 Mar 12 (1): 135-8. Rodriguez-Revenga Laia, Santos M Mònica, Sánchez Aurora, Pujol Montserrat, Gómez-Anson Beatriz, Badenas Celia, Jiménez Dolores, Madrigal Irene, Milà Montserr |
| FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes. Behavioral and brain functions : BBF 2011 7 (1): 19. Seixas Ana I, Vale José, Jorge Paula, Marques Isabel, Santos Rosário, Alonso Isabel, Fortuna Ana M, Pinto-Basto Jorge, Coutinho Paula, Margolis Russell L, Sequeiros Jorge, Silveira Isab |
| Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia. Clinical genetics 2012 Jul 9999 (999A): 999A. Dong Y, Sun YM, Liu ZJ, Ni W, Shi SS, Wu ZY |
| 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 |
| Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients. Neuroscience letters 2018 5 678 37-42. Mongelli Alessia, Sarro Lidia, Rizzo Elena, Nanetti Lorenzo, Meucci Nicoletta, Pezzoli Gianni, Goldwurm Stefano, Taroni Franco, Mariotti Caterina, Gellera Cinz |
| Spinocerebellar ataxia with axonal neuropathy type 1 revisited. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 6 67 139-144. Scott Patrick, Al Kindi Adila, Al Fahdi Amira, Al Yarubi Naeema, Bruwer Zandre, Al Adawi Samir, Nandhagopal Ramachandir |
| Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020 1 41 (6): 1475-1482. Mongelli Alessia, Magri Stefania, Salvatore Elena, Rizzo Elena, De Rosa Anna, Fico Tommasina, Gatti Marta, Gellera Cinzia, Taroni Franco, Mariotti Caterina, Nanetti Loren |
| 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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