Determinants of onset age in Friedreich’s ataxia-Reference-Cited by-同舟云学术

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Determinants of onset age in Friedreich’s ataxia

Published:1998-03 Issue:3 Volume:245 Page:166-168
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Michele Giuseppe,Filla Alessandro,Criscuolo Chiara,Scarano Valentina,Cavalcanti Francesca,Pianese Luigi,Monticelli Antonella,Cocozza Sergio

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s004150050198.pdf

Reference14 articles.

1. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duklos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M (1996) Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423–1427

2. Chamberlain S, Show J, Rowland A, Wallis J, South S, Nakamura Y, Gabain A von, Farrall M, Williamson R (1988) Mapping of the mutation causing Friedreich’s ataxia to human chromosome 9. Nature 334:248–250

3. De Michele G, Filla A, Barbieri F, Perretti A, Santoro L, Trombetta L, Santorelli F, Campanella G (1989) Late onset recessive ataxia with Friedreich’s disease phenotype. J Neurol Neurosurg Psychiatry 52:1398–1401

4. De Michele G, Filla A, Cavalcanti F, Di Maio L, Pianese L, Castaldo I, Calabrese O, Monticelli A, Varrone S, Campanella G, Leone M, Pandolfo M, Cocozza S (1994) Late onset Friedreich’s disease: clinical features and mapping of mutation to FRDA locus. J Neurol Neurosurg Psychiatry 57:977–979

5. De Michele G, Perrone F, Filla A, Mirante E, Giordano M, De Placido S, Campanella G (1996) Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich’s disease: a retrospective study on 119 patients. Neurology 47:1260–1264

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1. Friedreich's ataxia: new insights;Emerging Topics in Life Sciences;2023-09-12

2. Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington’s Disease;Journal of Huntington's Disease;2021-02-09

3. The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia;Brain;2020-03-10

4. On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability;Journal of Biological Chemistry;2020-03

5. Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort;Journal of the Neurological Sciences;2020-03

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