Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort-Reference-Cited by-同舟云学术

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Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort

Published:2023-12-08 Issue: Volume: Page:
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Lynch David R.^ORCID,Rojsajjakul Teerapat,Subramony S. H.,Perlman Susan L.,Keita Medina,Mesaros Clementina,Blair Ian A.

Funder

Friedreich's Ataxia Research Alliance

National Institute of Neurological Disorders and Stroke

National Institute of Environmental Health Sciences

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-023-12118-x.pdf

Reference36 articles.

1. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos 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. Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M (1996) Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med 335:1169–1175

3. Pandolfo M (2012) Friedreich ataxia. Handb Clin Neurol 103:275–294

4. Babady NE, Carelle N, Wells RD, Rouault TA, Hirano M, Lynch DR, Delatycki MB, Wilson RB, Isaya G, Puccio H (2007) Advancements in the pathophysiology of Friedreich’s Ataxia and new prospects for treatments. Mol Genet Metab 92:23–35

5. Pandolfo M (2009) Friedreich ataxia: the clinical picture. J Neurol 256(Suppl 1):3–8

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1. Emerging therapies in hereditary ataxias;Trends in Molecular Medicine;2024-08

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