Results 301 to 310 of about 9,962,231 (339)

BEYOND CARDIOMYOPATHY: A CASE OF CORONARY ARTERY DISEASE IN BECKER MUSCULAR DYSTROPHY

European Heart Journal Supplements
Abstract Introduction Becker Muscular Dystrophy (BMD) is a genetic disorder, caused by mutations in the dystrophin gene. Cardiac involvement is a common feature in this condition, often manifesting as dilated cardiomyopathy (DCM) or arrhythmias.
L Amore, P Lamendola, A Buffon, D Leone, C Palermo, B Berti, A Lombardo, G Lanza, E Mercuri, C Trani, F Burzotta, M Pane   +11 more
openaire   +1 more source

Bowen's disease developing within a Becker's melanosis (Becker's naevus)

British Journal of Dermatology, 1997
M. Honda, T. Suzuki, K. Kudoh, H. Tagami
openaire   +1 more source

[Dilated cardiomyopathy and lipid-lowering drug muscle toxicity revealing late-onset Becker's disease].

La Revue de medecine interne, 2006
The Becker's muscular dystrophy is a genetic myopathy due to mutations of the dystrophin gene, located in the Xp21 region, with a clinical expression usually occurring in young adults.We report an atypical case of late onset Becker's muscular dystrophy diagnosed at the age of 57.
M A, Vandenhende, F, Bonnet, L, Sailler, S, Bouillot, P, Morlat, J, Beylot   +5 more
openaire   +1 more source

Recessive myotonia congenita (Becker’s disease)

Stourac P, Kosinova M: Recessive myotonia congenita (Becker’s disease), 2019
Stourac, Petr, Kosinova, Martina
openaire   +1 more source

Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis.

Muscle & nerve, 1992
The rapid progress of research on the structure of the dystrophin gene has enormously increased our understanding of the molecular basis of Duchenne (DMD) and Becker (BMD) muscular dystrophy. Apart from "classical" clinical presentations, asymptomatic or only mildly affected individuals with deletions in the dystrophin gene have now been reported.
R, Gold, W, Kress, B, Meurers, G, Meng, H, Reichmann, C R, Müller   +5 more
openaire   +1 more source

[From gene to disease; the dystrophin gene involved in Duchenne and Becker muscular dystrophy].

Nederlands tijdschrift voor geneeskunde, 2002
Duchenne and Becker muscular dystrophy (DMD and BMD) are progressive disorders, which almost exclusively affect males. DMD is the more severe type with an onset at 2-3 years of age. Patients become wheelchair-bound before the age of 13 and often die due to cardiac arrest or respiratory insufficiency. BMD, a more varying phenotype which may overlap with
J T, den Dunnen, M, de Visser, E, Bakker
openaire   +1 more source

A general copper-catalysed enantioconvergent radical Michaelis–Becker-type C(sp3)–P cross-coupling

Nature Synthesis, 2023
Qiang-Shuai Gu, Xin-Yuan Liu
exaly  

Becker Muscular Dystrophy in Pediatric Population: Diagnosis, Genetic Variability, and Disease Progression

BIRTH AND GROWTH MEDICAL JOURNAL
Introdução: A distrofia muscular de Becker (DMB) é uma doença neuromuscular ligada ao cromossoma X, causada por variantes no gene DMD, manifestando-se por fraqueza muscular progressiva, miocardiopatia dilatada e défice cognitivo.   Objetivo: Caracterizar os doentes com DMB de um centro pediátrico de doenças neuromusculares.
Ribeiro, Mario, Silva, Joana, Gonçalves, Ana, Santos, Manuela, Garrido, Cristina   +4 more
openaire   +1 more source

Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients

Journal of Cachexia, Sarcopenia and Muscle, 2020
Daniele Capitanio, Manuela Moriggi, Enrica Torretta   +2 more
exaly  

FAIRification and semantic modelling for Duchenne and Becker Muscular Dystrophy rare diseases

2023
Perdomo-Quinteiro, Pablo, Siminiuc, Sergiu, Sakellariou, Paraskevi, Roos, Marco, Spitali, Pietro, Queralt-Rosinach, Núria   +5 more
openaire   +1 more source