Results 61 to 70 of about 235,784 (190)

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 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

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

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages [PDF]

, 2007
Mutations in laminin-alpha2 cause a severe congenital muscular dystrophy, called MDC1A. The two main receptors that interact with laminin-alpha2 are dystroglycan and alpha7beta1 integrin.
Ruegg, M. A., Patrizia Barzaghi, Lochmuller, H., Sarina Meinen, Markus A. Ruegg, Lin, S., Hanns Lochmüller, Shuo Lin, Barzaghi, P., Meinen, S., Meinen S, Barzaghi P, Lin S, Lochmüller H, Ruegg MA   +14 more
core   +1 more source

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

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source

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

British National Formulary Guidance on prescribing in pregnancy: A descriptive cross‐sectional study

British Journal of Clinical Pharmacology, EarlyView.
Aim To assess how well pregnancy‐specific guidance within the British National Formulary supports healthcare professionals to facilitate safe and effective medication use. Methods We performed a manifest content analysis of the text of all pregnancy sections within British National Formulary drug monographs, with inductive and iterative coding.
Hannah Johnson, Cleodie Swire, Lakshiv Dhingra, Toqa El‐Nahhas, Michelle Essiam, Salma Muse, Maria Tonkova, Nazmin Begum, Joan Morris, Emma Baker   +9 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
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