Results 91 to 100 of about 182,997 (357)

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio, DiPaolo, Giovanni, Guglieri, Michela, Jimenez-Moreno, Cecilia, Lochmüller, Hanns, Monckton, Darren G., Nikolenko, Nikoletta   +6 more
core   +2 more sources

Targeted Proteomics upon Treatment with Tofersen Identifies Novel Response Markers for Superoxide Dismutase 1‐Linked Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Tofersen is the first effective and approved therapy for superoxide dismutase 1 (SOD1)‐associated amyotrophic lateral sclerosis (ALS [SOD1‐ALS]). Following treatment with tofersen, neurofilament levels in patients' cerebrospinal fluid (CSF) and serum seem to respond earlier than clinical parameters.
Christina Steffke, Karthik Baskar, Franziska Bachhuber, Maximilian Wiesenfarth, Johannes Dorst, Joachim Schuster, Florian Schöberl, Peter Reilich, Martin Regensburger, Alexander German, René Günther, Maximilian Vidovic, Susanne Petri, Thomas Meyer, Tim Hagenacker, Julian Grosskreutz, Ute Weyen, Patrick Weydt, Thomas Haarmeier, Paul Lingor, Joachim Wolf, Andreas Hermann, Johannes Prudlo, Kornelia Günther, Antje Knehr, Zeynep Elmas, Zeljko Uzelac, Simon Witzel, Wolfgang Philipp Ruf, Axel Freischmidt, Ritchie Ho, Albert C. Ludolph, Jochen H. Weishaupt, Hayrettin Tumani, Patrick Oeckl, David Brenner, Alberto Catanese   +36 more
wiley   +1 more source

Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]

, 2012
BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Lin, Shuo, Meinen, Sarina, Ruegg, Markus A.   +2 more
core   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Barriers to diverse clinical trial participation in Duchenne muscular dystrophy: Engaging Hispanic/Latina caregivers and health professionals

Orphanet Journal of Rare Diseases
Background Despite the increasing availability of clinical trials in Duchenne muscular dystrophy, racial/ethnic minorities and other populations facing health disparities remain underrepresented in clinical trials evaluating products for Duchenne.
Norah L. Crossnohere, Nicola B. Campoamor, Eric Camino, Erin Dresnick, Daphne Oluwaseun Martschenko, Viana Rodrigues, Susan Apkon, Alexis Hazlett, Dhruv Mittur, Priscilla E. Rodriguez, John F. P. Bridges, Niki Armstrong   +11 more
doaj   +1 more source

Chart validation of an algorithm for identifying hereditary progressive muscular dystrophy in healthcare claims

BMC Medical Research Methodology, 2019
Background Muscular dystrophies (MDs) are a group of inherited conditions characterized by progressive muscle degeneration and weakness. The rarity and heterogeneity of the population with MD have hindered therapeutic developments as well as ...
Xiaoxue Chen, Abiy Agiro, Ann S. Martin, Ann M. Lucas, Kevin Haynes   +4 more
doaj   +1 more source

Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to progressive muscle weakness and premature death due to respiratory and/or cardiac complications.
Ball, V, Betts, C A, Gait, M J, Godfrey, C, Hammond, S M, Healicon, R, Manzano, R, McClorey, G, Merritt, T M, Muses, S, O'Donovan, L, Tyler, D, Wells, D J, Wells, K E, Westering, T, Wood, M J   +15 more
core   +2 more sources

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

Annals of Neurology, EarlyView.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source

Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice

Molecular Therapy: Nucleic Acids, 2018
Autosomal recessive homozygous or compound heterozygous mutations in FKRP result in forms of muscular dystrophy-dystroglycanopathy varying in age of onset, clinical presentation, and disease progression, ranging from the severe Walker-Warburg, type A,5 ...
Jason D. Tucker, Pei J. Lu, Xiao Xiao, Qi L. Lu   +3 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