Ataluren treatment of patients with nonsense mutation dystrophinopathy

Eugenio Maria Mercuri; K Bushby; R Finkel; B Wong; R Barohn; C Campbell; Gp Comi

doi:10.1002/mus.24332

Ataluren treatment of patients with nonsense mutation dystrophinopathy

Eugenio Maria Mercuri
, K Bushby
, R Finkel
, B Wong
, R Barohn
, C Campbell
, Gp Comi

Risultato della ricerca: Contributo in rivista › Articolo

250 Citazioni (Scopus)

Abstract

Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders.

Lingua originale	Inglese
pagine (da-a)	477-487
Numero di pagine	11
Rivista	MUSCLE & NERVE
Volume	50
Numero di pubblicazione	4
DOI	https://doi.org/10.1002/mus.24332
Stato di pubblicazione	Pubblicato - 2014

All Science Journal Classification (ASJC) codes

Fisiologia
Neurologia (clinica)
Neuroscienze Cellulari e Molecolari
Fisiologia (medica)

Keywords

Adolescent
Child
Codon
Dose-Response Relationship
Double-Blind Method
Drug
Duchenne
Duchenne muscular dystrophy
Dystrophin
Humans
International Cooperation
Male
Muscular Dystrophy
Nonsense
Outcome Assessment (Health Care)
Oxadiazoles
Preschool
Prospective Studies
Time Factors
Walking
genetic
nonsense mutation
orphan
pediatric

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10.1002/mus.24332

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abstract = "Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13\% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders.",

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AU - Bushby, K

AU - Finkel, R

AU - Wong, B

AU - Barohn, R

AU - Campbell, C

AU - Comi, Gp

PY - 2014

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Ataluren treatment of patients with nonsense mutation dystrophinopathy

Abstract

All Science Journal Classification (ASJC) codes

Keywords

Accesso al documento

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