Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia-Reference-Cited by-同舟云学术

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia

Published:2017-09-26 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Lad Meher,Parkinson Michael H.,Rai Myriam,Pandolfo Massimo,Bogdanova-Mihaylova Petya,Walsh Richard A.,Murphy Sinéad,Emmanuel Anton,Panicker Jalesh,Giunti Paola^ORCID

Funder

FP7 Ideas: European Research Council

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0709-y.pdf

Reference33 articles.

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2. Schulz JB, Boesch S, Burk K, Durr A, Giunti P, Mariotti C, Pousset F, Schols L, Vankan P, Pandolfo M. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 2009;5(4):222–34.

3. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271(5254):1423–7.

4. Abeti R, Parkinson MH, Hargreaves IP, Angelova PR, Sandi C, Pook MA, Giunti P, Abramov AY. Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia. Cell Death Dis. 2016;7:e2237.

5. Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain. 1981;104(3):589–620.

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