Results 91 to 100 of about 19,247 (225)

Respiratory surveillance of patients with Duchenne and Becker muscular dystrophy

Journal of Pediatric Rehabilitation Medicine, 2009
Duchenne muscular dystrophy is is the most common form of the childhood muscular dystrophies. It follows a predictable clinical course marked by progressive skeletal muscle weakness, lost of ambulation before teen-age and death in early adulthood ...
Virginia Spehrs-Ciaffi, Jean William Fitting, Jacques Cotting, Pierre-Yves Jeannet   +3 more
doaj   +1 more source

A Clinical Study Shows Safety and Efficacy of Autologous Bone Marrow Mononuclear Cell Therapy to Improve Quality of Life in Muscular Dystrophy Patients

Cell Transplantation, 2013
Muscular dystrophy is a genetic disorder with no definite cure. A study was carried out on 150 patients diagnosed with muscular dystrophy. These included Duchenne muscular dystrophy, limb-girdle muscular dystrophy, and Becker muscular dystrophy variants.
Alok Sharma M.S., M.Ch., Hemangi Sane, Prerna Badhe, Nandini Gokulchandran, Pooja Kulkarni, Mamta Lohiya, Hema Biju, V. C. Jacob   +7 more
doaj   +1 more source

A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient

Chinese Medical Journal, 2017
Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular diseases resulting from dystrophin (DMD) gene mutations.
Hao Yu, Yu-Chao Chen, Gong-Lu Liu, Zhi-Ying Wu   +3 more
doaj   +1 more source

Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]

, 2015
No abstract ...
Ferguson-Smith, Malcolm
core  

Translational and Regulatory Challenges for Exon Skipping Therapies [PDF]

, 2014
Several translational challenges are currently impeding the therapeutic development of antisense-mediated exon skipping approaches for rare diseases. Some of these are inherent to developing therapies for rare diseases, such as small patient numbers and ...
Aartsma-Rus, A, Balabanov, P, Bushby, K, Duchenne Parent Project, European Med Agency, Ferlini, A, Ferrara, Italy, Goemans, N, Groningen, Katholieke Univ Leuven, Leiden Uni Medical Center, Newcastle, Pasmooij, A M G, Vroom, E, Wells, D J   +14 more
core   +2 more sources

Elevation of transaminases. What if not the liver?

Лечащий Врач
Background. According to Russian studies, the average age of Duchenne muscular dystrophy diagnosis is 7-8 years. This is because, on one hand, Duchenne muscular dystrophy is a rare disease, and a doctor may never see it throughout their clinical practice.
I. V. Sharkova
doaj   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

Coordinated actions of microRNAs with other epigenetic factors regulate skeletal muscle development and adaptation [PDF]

, 2017
Epigenetics plays a pivotal role in regulating gene expression in development, in response to cellular stress or in disease states, in virtually all cell types.
Adamo, Sergio, Bianchi, Marzia, Moresi, Viviana, Renzini, Alessandra   +3 more
core   +1 more source

Comprehensive genetic characteristics of dystrophinopathies in China

Orphanet Journal of Rare Diseases, 2018
Background Dystrophinopathies are a set of severe and incurable X-linked neuromuscular disorders caused by mutations in the dystrophin gene (DMD). These mutations form a complex spectrum.
Peipei Ma, Shu Zhang, Hao Zhang, Siying Fang, Yuru Dong, Yan Zhang, Weiwei Hao, Shiwen Wu, Yuying Zhao   +8 more
doaj   +1 more source

Determination of qPCR Reference Genes Suitable for Normalizing Gene Expression in a Canine Model of Duchenne Muscular Dystrophy [PDF]

Background:Dogs with dystrophin-deficient muscular dystrophy are valuable models of the equivalent human disease, Duchenne Muscular Dystrophy (DMD): unlike the mdx mouse, these animals present a disease severity and progression that closely matches that ...
Aartsma-Rus, Ali, Andersen, Bages, Bello, Bish, Breitbart, Brinkmeyer-Langford, Burton, Bustin, Bustin, Camerino, Cohn, Cotten, Craig, Crist, Duan, Falzarano, Feder, Fjeldbo, Flanigan, Galindo, Gong, Hildyard, Kallestad, Kornegay, Kornegay, Li, Liu, Mah, McGreevy, Nghiem, Pegoraro, Pfaffl, Piva, Reinig, Rho, Robinson-Hamm, Robriquet, Schmittgen, Solano, Spassov, Swaggart, Thellin, Vieira, Vieira Natassia, Walmsley, Webster, Wuebbles, Yu, Zammit   +50 more
core   +1 more source