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Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
(BMJ Publishing Group, 2019)
© Author(s) (or their employer(s)) 2019.Background and objective Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions ...
Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report
(Assoc Brasileira Otorrinolaringologia & Cirurgia Cervicofacial, 2017)
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
(2019)
Background and objective Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in ...
Loss of nuclear poly(A)-binding protein 1 causes defects in myogenesis and mRNA biogenesis
(Oxford University Press, 2010-03-15)
The nuclear poly(A)-binding protein 1 (PABPN1) is a ubiquitously expressed protein that plays a critical role in polyadenylation. Short expansions of the polyalanine tract in the N-terminus of PABPN1 lead to oculopharyngeal ...
Loss of nuclear poly(A)-binding protein 1 causes defects in myogenesis and mRNA biogenesis
(Oxford University Press, 2010-03-15)
The nuclear poly(A)-binding protein 1 (PABPN1) is a ubiquitously expressed protein that plays a critical role in polyadenylation. Short expansions of the polyalanine tract in the N-terminus of PABPN1 lead to oculopharyngeal ...
Loss of nuclear poly(A)-binding protein 1 (PABPN1) causes defects in myogenesis and mRNA biogenesis
(2010)
The nuclear poly(A)-binding protein 1 (PABPN1) is a ubiquitously expressed protein that plays a critical role in polyadenylation. Short expansions of the polyalanine tract in the N-terminus of PABPN1 lead to oculopharyngeal ...
Loss of nuclear poly(A)-binding protein 1 causes defects in myogenesis and mRNA biogenesis
(Oxford University Press, 2014)