Results 51 to 60 of about 253,218 (253)

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy

Einstein (São Paulo)
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic
Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa   +3 more
doaj   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]

, 2003
The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
core  

Duchenne muscular dystrophy: current cell therapies

Therapeutic Advances in Neurological Disorders, 2015
Duchenne muscular dystrophy is a genetically determined X-linked disease and the most common, progressive pediatric muscle disorder. For decades, research has been conducted to find an effective therapy.
Dorota Sienkiewicz, Wojciech Kulak, Bożena Okurowska-Zawada, Grażyna Paszko-Patej, Katarzyna Kawnik   +4 more
doaj   +1 more source

Two Years of Ocrelizumab Treatment in Black and Hispanic People with Multiple Sclerosis in CHIMES: A Single‐Arm Clinical Trial

Annals of Neurology, EarlyView.
Objective To evaluate the effectiveness and safety of ocrelizumab in self‐identified black and Hispanic people with relapsing multiple sclerosis. Methods The Characterization of Ocrelizumab in Minorities with Multiple Sclerosis (CHIMES) trial, a prospective, open‐label, single‐arm, phase 4 study, intentionally recruited underrepresented populations in ...
Lilyana Amezcua, Anthony T. Reder, Evanthia Bernitsas, Nancy L. Monson, Timothy Vartanian, Gregory F. Wu, Mansoor Saleh, Annette Okai, Ahmed Z. Obeidat, Dilraj Sokhi, Rikisha Parekh, Jinglan Pei, Christopher Harp, David Clayton, Ibraheem Abioye, Mitzi J. Williams, for the CHIMES Study Group   +16 more
wiley   +1 more source

Temporal Bayesian classifiers for modelling muscular dystrophy expression data [PDF]

, 2006
The analysis of microarray data from time-series experiments requires specialised algorithms, which take the temporal ordering of the data into account. In this paper we explore a new architecture of Bayesian classifier that can be used to understand how
Liu, X, Vinciotti, V, Hoen, PAC't, Tucker, A   +3 more
core   +5 more sources

Exosome-Mediated Benefits of Cell Therapy in Mouse and Human Models of Duchenne Muscular Dystrophy

Stem Cell Reports, 2018
Summary: Genetic deficiency of dystrophin leads to disability and premature death in Duchenne muscular dystrophy (DMD), affecting the heart as well as skeletal muscle.
Mark A. Aminzadeh, Russell G. Rogers, Mario Fournier, Rachel E. Tobin, Xuan Guan, Martin K. Childers, Allen M. Andres, David J. Taylor, Ahmed Ibrahim, Xiangming Ding, Angelo Torrente, Joshua M. Goldhaber, Michael Lewis, Roberta A. Gottlieb, Ronald A. Victor, Eduardo Marbán   +15 more
doaj   +1 more source

Using Synthetic Glycans to Investigate Anti‐Glycan Antibodies and Explore Their Medical Potential

Angewandte Chemie International Edition, EarlyView.
Anti‐glycan antibodies are essential in health and disease. Access to novel glycan structures paves the way for progress in antibody profiling for biomarker discovery, antibody development, and vaccine design. We summarize the strategies to synthesize and utilize synthetic glycans for the development and application of anti‐glycan antibodies in basic ...
Fabienne Weber, Aina Valenti, Jiří Ledvinka, Oren Moscovitz, Peter H. Seeberger   +4 more
wiley   +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
Mahler, V., Ried, Thomas, V. Mahler, van Ommen, G. J. B., G. J. B. van Ommen, Blonden, L., Cremer, Thomas, Vogt, Peter, L. Blonden, P. Vogt, T. Ried, T. Cremer, M. Cremer   +12 more
core   +1 more source

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