Results 31 to 40 of about 157,656 (310)

Development of a Clinical Global Impression of Change (CGI-C) and a Caregiver Global Impression of Change (CaGI-C) measure for ambulant individuals with Duchenne muscular dystrophy

Health and Quality of Life Outcomes, 2021
Background In clinical trials for rare diseases, such as Duchenne muscular dystrophy, clinical outcome assessments (COA) used to assess treatment benefit are often generic and may not be sensitive enough to detect change in specific patient populations ...
Hannah Staunton, Claire Trennery, Rob Arbuckle, Maitea Guridi, Elena Zhuravleva, Pat Furlong, Ryan Fischer, Rebecca Hall   +7 more
doaj   +1 more source

How Can a Clinical Data Modelling Tool Be Used to Represent Data Items of Relevance to Paediatric Clinical Trials? Learning from the Conect4children (c4c) Consortium

Applied Sciences, 2022
Data dictionaries for clinical trials are often created manually, with data structures and controlled vocabularies specific for a trial or family of trials within a sponsor’s portfolio.
Chima Amadi, Rebecca Leary, Avril Palmeri, Victoria Hedley, Anando Sen, Rahil Qamar Siddiqui, Dipak Kalra, Volker Straub   +7 more
doaj   +1 more source

Muscular dystrophies

The Lancet, 2019
Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtype-specific anticipatory care, as complications such as cardiac ...
Mercuri E., Bonnemann C. G., Muntoni F.
openaire   +4 more sources

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Aarli, Adams, Amyot, Barbeau, Bosch, Bray, Campanella, Cohen, Cox, Coërs, Croft, Direkze, Dutil, Fried, Fuchs, Goto, Graef von, Graf, Hartmann, Hayes, Julien, Kearns, Kiloh, Krause, Lakin, Lees, Lewis, Liversedge, Lundberg, Man, Maningand, Mater, Matsunaga, Murphy, Myrianthopoulos, Nicolaissen, Peterman, Radu, Rebeiz, Roberts, Satoyoshi, Saucier, Schmitt, Schmitt, Schotland, Schwarz, Szobar, Taylor, Victor, Zellweger   +49 more
core   +1 more source

MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy

Cell Reports, 2023
Summary: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common neuromuscular disorders and has no cure. Due to an unknown molecular mechanism, FSHD displays overlapping manifestations with the neurodegenerative disease amyotrophic ...
Valeria Runfola, Roberto Giambruno, Claudia Caronni, Maria Pannese, Annapaola Andolfo, Davide Gabellini   +5 more
doaj   +1 more source

From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle disease [PDF]

, 2014
McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity.
Andrea Beggs, Andreu AL, Andrew Wakelin, Borg G, Braakhekke JP, Charlotte Ellerton, Gurgel-Giannetti J, Haller RG, Janice L Holton, Jatin Pattni, Lucia A, Lucia A, Miteff F, Nadaj-Pakleza AA, Pearson C, Pernow BB, Quinlivan R, Renata Siciliani Scalco, Richard Godfrey, Ros Quinlivan, Sherryl Chatfield, Stefen Brady, Vieitez I, Vissing J   +23 more
core   +3 more sources

Case report of an exercise training and nutritional intervention plan in a patient with A350P mutation in DES gene. [PDF]

, 2020
Performing a supplementation intervention with creatine and protein, in conjunction with low-intensity endurance and resistance exercise is safe and has a positive effect on the quality of life in a patient with ...
Baar, Keith, Jannas-Vela, Sebastian, Monje, Camila, Zbinden-Foncea, Hermann   +3 more
core   +1 more source

Dose-Dependent Effects of FKRP Gene-Replacement Therapy on Functional Rescue and Longevity in Dystrophic Mice

Molecular Therapy: Methods & Clinical Development, 2018
Muscular dystrophy-dystroglycanopathies (MDDGs) resulting from fukutin-related protein (FKRP) gene mutations are rare disorders that result in a wide spectrum of clinical severity based on the age of onset, the degree of myogenic atrophy, and/or ...
Charles Harvey Vannoy, Victoria Leroy, Qi Long Lu   +2 more
doaj   +1 more source

"Of Mice and Measures": A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic [PDF]

, 2018
A new line of dystrophic mdx mice on the DBA/2J (D2) background has emerged as a candidate to study the efficacy of therapeutic approaches for Duchenne muscular dystrophy (DMD). These mice harbor genetic polymorphisms that appear to increase the severity
Aartsma-Rus, A., Bogdanik, L, Davies, K, De Luca, A, Demonbruen, Ar, Duan, D, Elsey, D, Fukada, Si, Girgenrath, M, Gonzalez, Jp, Gordish-Dressman, H, Grounds, Md, Heydemann, A, Kreibich, A, Lutz, C, Nagaraju, K, Nichols, A, Partridge, T, Passini, M, Pazze, Ld, Sanarica, F, Schnell, Fj, Spencer, M, Spurney, C, van Putten, M, Wells, Dj, Willmann, R, Yokota, T, Young, Cs, Zhong, Z   +29 more
core   +3 more sources

Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice

Nature Communications, 2018
Mutations in FKRP impair glycosylation of alpha-dystroglycan, leading to muscular dystrophy. Here, the authors show that oral administration of ribitol increases dystropglycan glycosylation and ameliorates symptoms of muscular dystrophy in FKRP-deficient
Marcela P. Cataldi, Peijuan Lu, Anthony Blaeser, Qi Long Lu   +3 more
doaj   +1 more source