Results 71 to 80 of about 233,409 (358)

Clinical analysis of 155 patients with Duchenne muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2015
Objective To investigate the clinical manifestations and laboratory examinations of Duchenne muscular dystrophy (DMD) patients and evaluate the principle of intermittent intravenous combined with oral glucocorticoid therapy.
Qi BING, Jing HU, Zhe ZHAO, Hong-rui SHEN, Na LI   +4 more
doaj  

Progressive impairment of CaV1.1 function in the skeletal muscle of mice expressing a mutant type 1 Cu/Zn superoxide dismutase (G93A) linked to amyotrophic lateral sclerosis [PDF]

, 2016
Background: Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disorder that is typically fatal within 3–5 years of diagnosis. While motoneuron death is the defining characteristic of ALS, the events that underlie its pathology are
Bannister, Roger A., Beqollari, Donald, Dobrowolny, Gabriella, Martini, Martina, Musarò, Antonio, Romberg, Christin F., Voss, Andrew A.   +6 more
core   +2 more sources

Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pure autonomic failure (PAF) presents with autonomic failure without other neurological features. A third develop central neurological features, fulfilling criteria for multiple system atrophy (MSA) and Lewy body diseases (LBD), including Parkinson's disease and Dementia with Lewy bodies.
S. Koay, E. Vichayanrat, F. Bremner, F. Valerio, R. Mackenzie, G. Chiaro, G. Ingle, P. McNamara, L. Watson, J. N. Panicker, M. P. Lunn, C. Mathias, V. Iodice   +12 more
wiley   +1 more source

miR126-5p Downregulation Facilitates Axon Degeneration and NMJ Disruption via a Non-Cell-Autonomous Mechanism in ALS. [PDF]

, 2018
Axon degeneration and disruption of neuromuscular junctions (NMJs) are key events in amyotrophic lateral sclerosis (ALS) pathology. Although the disease\u27s etiology is not fully understood, it is thought to involve a non-cell-autonomous mechanism and ...
Behar, Oded, Bonnie, Avichai, Gradus, Tal, Inbar, Shani, Ionescu, Ariel, Maimon, Roy, Perlson, Eran, Sweetat, Sahar, Trotti, Davide, Wald-Altman, Shane, Weil, Miguel   +10 more
core   +2 more sources

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Survival, Quality of Life and Effects of Enzyme Replacement Therapy in Adults with Pompe Disease [PDF]

, 2013
Pompe disease, or glycogen storage disorder type II, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase.
Güngör, D. (Deniz)
core   +1 more source

Gastrointestinal neuromuscular apparatus: An underestimated target of gut microbiota [PDF]

, 2016
Over the last few years, the importance of the resident intestinal microbiota in the pathogenesis of several gastro- intestinal diseases has been largely investigated.
Cicala, M, Guarino, Mp, Putignani, L, Severi, Carola   +3 more
core   +1 more source

Real‐World Cost‐Effectiveness of a Standardized Education and Exercise Therapy Program for Hip and Knee Osteoarthritis Compared to Usual Care

Arthritis Care &Research, EarlyView.
Objective We estimated the real‐world cost‐effectiveness of a standardized education and exercise therapy program (GLA:D) compared to usual care (UC) for people managing hip and/or knee osteoarthritis (HKOA). Methods We used a prospective matched cohort design to recruit people (aged >45 years) diagnosed with HKOA who used GLA:D or UC (not on a ...
Darren R. Mazzei, Jackie L. Whittaker, Peter Faris, Tracy Wasylak, Deborah A. Marshall   +4 more
wiley   +1 more source

A novel DNM2 variant associated with centronuclear myopathy: a case report

Frontiers in Genetics
DNM2 encodes the dynamin-2 protein, a GTPase involved in clathrin-mediated endocytosis and other membrane trafficking pathways. The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin ...
Martina Rimoldi, Daniele Velardo, Simona Zanotti, Michela Ripolone, Roberto Del Bo, Patrizia Ciscato, Laura Napoli, Stefania Corti, Stefania Corti, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi   +12 more
doaj   +1 more source

Serum levels of matrix metalloproteinases-2 and-9 and their tissue inhibitors in inflammatory neuromuscular disorders [PDF]

, 2006
We monitored serum levels of matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) before and during intravenously applied immunoglobulin (IVIG) therapy in 33 patients with chronic immune-mediated neuropathies and myopathies and 15 ...
B.G.H. Schoser, Carmeli E, Choi YC, D. Pongratz, Demestre M, Hartung HP, Kieseier BC, Kugler A, Lee MA, Mirowska D, S. Hurnaus, Schoser BGH, Shapiro S, Sharshar T, W. Mueller-Felber, Wiles CM   +15 more
core   +1 more source