Results 1 to 10 of about 409,422 (304)

Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies [PDF]

Journal of Cachexia, Sarcopenia and Muscle, 2018
Background Analysis of muscle biopsies allowed to characterize the pathophysiological changes of Duchenne and Becker muscular dystrophies (D/BMD) leading to the clinical phenotype.
Pietro Spitali, Kristina Hettne, Roula Tsonaka, Mohammed Charrout, Janneke van denBergen, Zaïda Koeks, Hermien E. Kan, Melissa T. Hooijmans, Andreas Roos, Volker Straub, Francesco Muntoni, Cristina Al‐Khalili‐Szigyarto, Marleen J.A. Koel‐Simmelink, Charlotte E. Teunissen, Hanns Lochmüller, Erik H. Niks, Annemieke Aartsma‐Rus   +16 more
doaj   +10 more sources

Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

Journal of Methods and Measurement in the Social Sciences, 2010
Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric.
Melinda F. Davis, Katalin H. Scherer, Timothy M. Miller, F. John Meaney   +3 more
doaj   +3 more sources

Errata: Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

Journal of Methods and Measurement in the Social Sciences, 2011
Reports an error in Davis et al. (2010).  The functional motor scale used in Davis et al. (2010) was the EK (Egen Klassifikation) Scale, rather than the Amyotrophic Lateral Sclerosis Functional Rating Scale (Steffensen et al., 2002; Cedarbaum Stambler ...
Melinda F. Davis, Katalin H. Scherer, Timothy M. Miller, F. John Meaney   +3 more
doaj   +4 more sources

Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies

Biomolecules & Biomedicine, 2015
Mutations of the dystrophin DMD gene, essentially deletions of one or several exons, are the cause of two devastating and to date incurable diseases, Duchenne (DMD) and Becker (BMD) muscular dystrophies.
Elisabeth Le Rumeur
doaj   +4 more sources

Understanding Becker Muscular Dystrophy: Disease Overview and Natural History

European Medical Journal
EMJ
doaj   +2 more sources

The mechanism underlying transient weakness in myotonia congenita

eLife, 2021
In addition to the hallmark muscle stiffness, patients with recessive myotonia congenita (Becker disease) experience debilitating bouts of transient weakness that remain poorly understood despite years of study. We performed intracellular recordings from
Jessica H Myers, Kirsten Denman, Chris DuPont, Ahmed A Hawash, Kevin R Novak, Andrew Koesters, Manfred Grabner, Anamika Dayal, Andrew A Voss, Mark M Rich   +9 more
doaj   +1 more source

Cellular Transplantation Alters the Disease Progression in Becker’s Muscular Dystrophy [PDF]

Case Reports in Transplantation, 2013
Becker’s Muscular Dystrophy (BMD) is a dystrophinopathy manifested as progressive muscle degeneration. Autologous Bone Marrow Mononuclear Cells (BMMNCs) have shown some myogenic potential. The paracrine effects of the BMMNCs reduce the inflammation and are thought to reduce muscle degeneration. We treated a 39 year old dental surgeon suffering from BMD.
Alok Sharma, Amruta Paranjape, Hemangi Sane, Khushboo Bhagawanani, Nandini Gokulchandran, Prerna Badhe   +5 more
openaire   +4 more sources

Becker congenital myotonia in black African with molecular findings

Egyptian Journal of Medical Human Genetics, 2022
Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease.
Simon Azonbakin, Diane Adovoekpe, Marius Adjagba, Jules Alao, Gratien Sagbo, Constant Adjien, Anatole Laleye   +6 more
doaj   +1 more source

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

Frontiers in Neurology, 2020
Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1.
Chiara Orsini, Roberta Petillo, Paola D'Ambrosio, Manuela Ergoli, Esther Picillo, Marianna Scutifero, Luigia Passamano, Alessandro De Luca, Luisa Politano   +8 more
doaj   +1 more source

Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases

Orphanet Journal of Rare Diseases, 2022
There are scarce publications regarding the presentation and outcome of Becker muscular dystrophy in adulthood when idiopathic dilated cardiomyopathy is the initial disease manifestation.
Gaspar Del Rio-Pertuz, Cristina Morataya, Kanak Parmar, Sarah Dubay, Erwin Argueta-Sosa   +4 more
doaj   +1 more source