Results 41 to 50 of about 54,763 (333)

Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]

, 2016
Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua, McDermott, Suzanne, Reichard, Amanda, Royer, Julie, Ruttenber, Margaret, Smith, Michael G., Valdez, Rodolfo   +6 more
core   +3 more sources

Facioscapulohumeral Muscular Dystrophy [PDF]

Neurologic Clinics, 2014
ABSTRACT Purpose of Review: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD). Recent Findings: FSHD comprises two genetically distinct types that converge on a common ...
Jeffrey Statland, Rabi Tawil
openaire   +6 more sources

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

Molecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou, Leonidas A. Phylactou   +1 more
doaj  

Nonmechanical Roles of Dystrophin and Associated Proteins in Exercise, Neuromuscular Junctions, and Brains

Brain Sciences, 2015
Dystrophin-glycoprotein complex (DGC) is an important structural unit in skeletal muscle that connects the cytoskeleton (f-actin) of a muscle fiber to the extracellular matrix (ECM).
Bailey Nichols, Shin'ichi Takeda, Toshifumi Yokota   +2 more
doaj   +1 more source

Review: Dystroglycan in the Nervous System [PDF]

, 2007
Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core   +2 more sources

Surprising genotype expressed as a common limb-girdle muscular dystrophy [PDF]

Romanian Journal of Neurology, 2017
Limb-girdle muscular dystrophies (LGMDs) comprise a phenotypical spectrum of muscular dystrophies with a high degree of genotypical variability. We describe the case of a 56-year-old male with a history and clinical picture suggestive for LGMD with ...
Liviu Cozma, Maria Barsevschi, Cristina Mitu, Alexandra Bastian, Bogdan Ovidiu Popescu   +4 more
doaj   +1 more source

Dystrophin glycoprotein complex dysfunction:a regulatory link between muscular dystrophy and cancer cachexia [PDF]

, 2005
SummaryCachexia contributes to nearly a third of all cancer deaths, yet the mechanisms underlying skeletal muscle wasting in this syndrome remain poorly defined.
Acharyya, Swarnali, Burghes, Arthur H M, Butchbach, Matthew E R, Carathers, Micheal, Fearon, Kenneth C H, Guttridge, Denis C, Hollingsworth, Michael A, Muscarella, Peter, Rafael-Fortney, Jill A, Ringel, Matthew D, Sahenk, Zarife, Saji, Motoyasu, Skipworth, Richard J E, Wang, Huating   +13 more
core   +1 more source

Fortnightly review: The muscular dystrophies

BMJ, 1998
The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal ...
openaire   +6 more sources

Regional anesthesia and muscle-wasting diseases in pediatrics: A focused educational review

Saudi Journal of Anaesthesia
The muscular dystrophies or muscle-wasting diseases include a diverse group of genetic disorders, which result in progressive degeneration of skeletal muscles, progressive muscle weakness, and comorbid multi-system involvement.
Amr Elhamrawy, Islam Elmitwalli, Candice Burrier, Giorgio Veneziano, Joseph D. Tobias   +4 more
doaj   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source