Results 31 to 40 of about 68,781 (284)

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials. [PDF]

, 2015
With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M, Manzur, AY, Mayhew, A, Mercuri, E, Muntoni, F, on behalf of UK NorthStar Clinical Network, ., Pane, M, Ricotti, V, Ridout, DA   +8 more
core   +1 more source

Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

Journal of Medical Case Reports, 2011
Introduction Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare.
Kaur Jasmeet, Sharma Sanjeevan, Sharma Ajay, Das Satyaranjan, Nair Velu, Mishra DK   +5 more
doaj   +1 more source

Genetic modifiers of ambulation in the cooperative international Neuromuscular Research Group Duchenne natural history study [PDF]

, 2015
OBJECTIVE: We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort.
Andreone, Luz, Bello, Luca, Cnaan, Avital, Cooperative International Neuromuscular Research Group Investigators, Dubrovsky, Alberto, Duong, Tina, Gordish Dressman, Heather, Henricson, Erik K., Hoffman, Eric P., Kesari, Akanchha, McDonald, Craig M., Morgenroth, Lauren P., Pegoraro, Elena, Punetha, Jaya   +13 more
core   +1 more source

Advances in Dystrophinopathy Diagnosis and Therapy

Biomolecules, 2023
Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated cardiomyopathy.
Fawzy A. Saad, Gabriele Siciliano, Corrado Angelini   +2 more
doaj   +1 more source

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test [PDF]

, 2015
The aim of this study was to establish the possible effect of glucocorticoid treatment on upper limb function in a cohort of 91 non-ambulant DMD boys and adults of age between 11 and 26 years.
Baranello, Giovanni, Barp, Andrea, Battini, Roberta, Bello, Luca, Berardinelli, Angela, Bertini, Enrico, Bianco, Flaviana, Bonfiglio, Serena, Bruno, Claudio, Carlesi, Adelina, Cavallaro, Filippo, D'Amico, Adele, D'Angelo, Grazia, De Sanctis, Roberto, Fanelli, Lavinia, Frosini, Silvia, Gardani, Alice, Gorni, Ksenija, Iotti, Elena, Lanzillotta, Valentina, Mazzone, Elena Stacy, Mercuri, Eugenio, Messina, Sonia, Mongini, Tiziana, Olivieri, Giorgia, Palermo, Concetta, Pane, Marika, Pegoraro, Elena, Petillo, Roberta, Pini, Antonella, Politano, Luisa, Rolle, Enrica, Scutifero, Marianna, Sframeli, Maria, Sivo, Serena, Sormani, Maria Pia, Viggiano, Emanuela, Vita, Gian Luca   +37 more
core   +3 more sources

Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using Campylobacter jejuni Cas9 [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle wasting disease caused by mutations in the DMD gene. In 51% of DMD cases, a reading frame is disrupted because of deletion of several exons.
Cappellari, O, Cho, H-Y, Dickson, G, Kim, D, Kim, E, Kim, J-S, Koo, T, Lu-Nguyen, N B, Malerba, A, Popplewell, L   +9 more
core   +1 more source

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus [PDF]

, 1990
A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene
G. J. B. van Ommen, L. Blonden, M. Cremer, P. Vogt, T. Cremer, T. Ried, V. Mahler   +6 more
core   +1 more source

Duchenne Muscular Dystrophy [PDF]

Journal of Medical Genetics, 1994
Since the publication of the first edition of this book in 1987, the identification of the gene responsible for Duchenne muscular dys trophy and the characterization of the missing protein product, dystrophin, have revolutionized research in the field and led to a better understanding of this devastating genetic disease.
openaire   +4 more sources

Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model

Journal of Patient-Reported Outcomes, 2021
Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams, Ian Davidson, Mark Rance, Axel Boehnke, Katharina Buesch, Sarah Acaster   +5 more
doaj   +1 more source

Palliative care services in families of males with muscular dystrophy: Data from MD STARnet

SAGE Open Medicine, 2019
Introduction: Information on use of palliative care services among individuals with Duchenne and Becker muscular dystrophy is scant despite the clearly documented need.
Jennifer G Andrews, Shree Pandya, Christina Trout, Treeva Jaff, Dennis Matthews, Christopher Cunniff, F John Meaney   +6 more
doaj   +1 more source