Results 81 to 90 of about 35,591 (238)

Severe CMD with Novel Mutation in Lamin A/C Gene

Pediatric Neurology Briefs, 2010
Researchers at Queen Fabiola Children’s University Hospital, Brussels, Belgium, report a 7-year-old Belgian boy with a 5 months-onset congenital muscular dystrophy and laminopathy caused by a de novo heterozygous LMNA gene mutation.
J Gordon Millichap
doaj   +1 more source

Biomechanics of foetal movement. [PDF]

, 2015
© 2015, AO Research Institute. All rights reserved.Foetal movements commence at seven weeks of gestation, with the foetal movement repertoire including twitches, whole body movements, stretches, isolated limb movements, breathing movements, head and neck
Nowlan, NC
core   +2 more sources

Cardiac Complications of Fukuyama-Type Congenital Muscular Dystrophy

Pediatric Neurology Briefs, 2006
The course of left ventricular function was evaluated using M-mode and Doppler echocardiography in 34 patients with Fukuyama-type congenital muscular dystrophy (FCMD), in a study at the Tokyo Women’s Medical University, Tokyo, Japan.
J Gordon Millichap
doaj   +1 more source

Prenatal muscle development in a mouse model for the secondary dystroglycanopathies [PDF]

, 2016
The defective glycosylation of α-dystroglycan is associated with a group of muscular dystrophies that are collectively referred to as the secondary dystroglycanopathies.
A Leschziner, A Matsakas, A Yoshida, AM Beedle, AR Raphael, B Xia, B-V BD de, C Godfrey, C Longman, C Whitmore, CA Schneider, D Merrick, D Montarras, DE Michele, DJ Blake, DJ Lefeber, E Hohenester, E Stevens, F Muntoni, H Yin, J Reeuwijk van, J Ross, JB Miller, K Buysse, K Kobayashi, KM Wright, KP Campbell, L Wells, M Brockington, M Brockington, M Kanagawa, M Kanagawa, M Narusawa, M Ontell, MD Henry, MJ Duxson, MM Goddeeris, MR Ackroyd, MR Ackroyd, O Armand, S Chan, S Cirak, S Costanzo Di, S Sato, S Schiaffino, S Sugita, SC Brown, T Roscioli, T Willer, TJ Hawke   +49 more
core   +2 more sources

Asthma and Multimorbidity Amongst Ethnic Minority Groups in High Income Countries

Clinical &Experimental Allergy, EarlyView.
There is a tight intersection between asthma, deprivation, ethnicity, multimorbidity and poor clinical outcomes. An integrated, holistic and culturally tailored approach is needed to improve clinical outcomes amongst ethnic minority groups with asthma and multimorbidity. ABSTRACT Asthma is one of the commonest noncommunicable diseases worldwide.
Mamidipudi Thirumala Krishna, Saibal Moitra, Anna Freeman, Ben Ainsworth, Rebecca Knibb, Ramesh Kurukulaaratchy, Adel H. Mansur   +6 more
wiley   +1 more source

Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene

Molecular Therapy: Methods & Clinical Development, 2017
Loss-of-function mutations in the Fukutin-related protein (FKRP) gene cause limb-girdle muscular dystrophy type 2I (LGMD2I) and other forms of congenital muscular dystrophy-dystroglycanopathy that are associated with glycosylation defects in the α ...
Charles Harvey Vannoy, Will Xiao, Peijuan Lu, Xiao Xiao, Qi Long Lu   +4 more
doaj   +1 more source

Physiology of respiratory disturbances in muscular dystrophies [PDF]

, 2016
Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea, Lo Mauro, Maria Antonella   +1 more
core   +2 more sources

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Cellular and molecular mechanisms underlying muscular dystrophy [PDF]

, 2014
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core   +1 more source

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, EarlyView.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source