Results 161 to 170 of about 19,247 (225)

A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report. [PDF]

Heliyon
Liu C, Lu Y, Yu H, Xie Z, Sun C, Cheng X, Niu F, Zhao Y, Deng J, Meng L, Wang Z, Yuan Y, Xie Z.   +12 more
europepmc   +1 more source

Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions. [PDF]

Neurol Sci
Pezzoni L, Brusa R, Difonzo T, Magri F, Velardo D, Corti S, Comi GP, Saetti MC.   +7 more
europepmc   +1 more source

A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings? [PDF]

J Genet Couns
Verebi C, Gravrand V, Bienvenu T, Leturcq F, Nectoux J.   +4 more
europepmc   +1 more source

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: A retrospective cohort study [PDF]

, 2018
et al,, Harms, Matthew, Moore, Ursula R, Pestronk, Alan   +3 more
core   +1 more source

Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration. [PDF]

Sci Rep
Piñol-Jurado P, Verdú-Díaz J, Fernández-Simón E, Domínguez-González C, Hernández-Lain A, Lawless C, Vincent A, González-Chamorro A, Villalobos E, Monceau A, Laidler Z, Mehra P, Clark J, Filby A, McDonald D, Rushton P, Bowey A, Alonso Pérez J, Tasca G, Marini-Bettolo C, Guglieri M, Straub V, Suárez-Calvet X, Díaz-Manera J.   +23 more
europepmc   +1 more source

Caregiver Burden with Duchenne and Becker Muscular Dystrophy in Japan: A Clinical Observation Study. [PDF]

Intern Med
Ishizaki M, Kobayashi M, Hashimoto H, Nakamura A, Maeda Y, Ueyama H, Matsumura T.   +6 more
europepmc   +1 more source

Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease. [PDF]

J Neuromuscul Dis
McDonald C, Camino E, Escandon R, Finkel RS, Fischer R, Flanigan K, Furlong P, Juhasz R, Martin AS, Villa C, Sweeney HL.   +10 more
europepmc   +1 more source

GC-MS analysis of 4-hydroxyproline: elevated proline hydroxylation in metformin-associated lactic acidosis and metformin-treated Becker muscular dystrophy patients. [PDF]

Amino Acids
Baskal S, Posma RA, Bollenbach A, Dieperink W, Bakker SJL, Nijsten MW, Touw DJ, Tsikas D.   +7 more
europepmc   +1 more source