Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 14 (of 14 Records) |
| Query Trace: Hereditary Ataxia[original query] |
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| Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy. Archives of neurology 2001 Nov 58 (11): 1856-9. Cellini E, Nacmias B, Forleo P, Piacentini S, Guarnieri B M, Serio A, Calabrò A, Renzi D, Sorbi |
| A simple method for the detection of neurologic disorders associated with CAG repeat expansion using PCR-microtiter plate hybridization. Journal of biotechnology 2002 May 95 (3): 215-23. Lee Y, Oh M R, Kim C H, Hwang H Z, Kim J S, Song S M, Jin D |
| 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 |
| Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. Archives of neurology 2004 Jun 61 (6): 875-80. Smith Corrine O, Lipe Hillary P, Bird Thomas |
| Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Archives of neurology 2004 May 61 (5): 727-33. Brusco Alfredo, Gellera Cinzia, Cagnoli Claudia, Saluto Alessandro, Castucci Alessia, Michielotto Chiara, Fetoni Vincenza, Mariotti Caterina, Migone Nicola, Di Donato Stefano, Taroni Fran |
| Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. Journal of human genetics 2006 51 (4): 363-7. Wieczorek Stefan, Arning Larissa, Alheite Ingrid, Epplen Jörg |
| Friedreich's Ataxia (FRDA) is an extremely rare cause of autosomal recessive ataxia in Chinese Han population. Journal of the neurological sciences 2015 Apr 351 (1-2): 124-6. Zeng Junsheng, Wang Junling, Zeng Sheng, He Miao, Zeng Xianfeng, Zhou Yao, Liu Zhen, Jiang Hong, Tang Beis |
| 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 |
| Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia. Clinical genetics 2019 8 96 (6): 566-574. Shakya Sunil, Kumari Renu, Suroliya Varun, Tyagi Nishu, Joshi Aditi, Garg Ajay, Singh Inder, Kalikavil Puthanveedu Divya, Cherian Ajith, Mukerji Mitali, Srivastava Achal K, Faruq Mohamm |
| [CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia]. Der Nervenarzt 2020 5 91 (6): 537-540. Meindl Tobias, Cordts Isabell, Scherzer Anna-Lisa, Lingor Paul, Maegerlein Christian, Galassi Deforie Valentina, Dominik Natalia, Houlden Henry, Cortese Andrea, Deschauer Marc |
| 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 |
| Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia. Neurology. Genetics 2023 8 9 (5): e200094. Luiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, Pedro J Tomaselli, Shahryar Alavi, Marcus Vinícius Della Coleta, Mariana Spitz, Marie-Josée Dicaire, Pablo Iruzubieta, José Luiz Pedroso, Orlando Barsottini, Andrea Cortese, Matt C Danzi, Marcondes C França, Bernard Brais, Stephan Zuchner, Henry Houlden, Salmo Raskin, Wilson Marques, Helio A Tei |
| Coexistence of multiple sclerosis and spinocerebellar ataxia type-8. Multiple sclerosis (Houndmills, Basingstoke, England) 2023 7 13524585231180549. Nur Neyal, B Mark Keegan, Orhun H Kantarci, Burcu Zeyd |
| Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population. Brain communications 2023 10 5 (5): fcad244. Tanya Lam, Clarissa Rocca, Kristina Ibanez, Anupriya Dalmia, Samuel Tallman, Marios Hadjivassiliou, Anke Hensiek, Andrea Nemeth, Stefano Facchini, , Nicholas Wood, Andrea Cortese, Henry Houlden, Arianna Tuc |
- Page last reviewed:Feb 1, 2024
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