Results 21 to 30 of about 60,007 (250)

A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the gene

SAGE Open Medical Case Reports, 2022
Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels.
Xing-Chuan Li, Song Wang, Jia-Rui Zhu, Yu-Shan Yin, Ni Zhang   +4 more
doaj   +1 more source

Gigantic Stomach: A Rare Manifestation of Duchenne Muscular Dystrophy [PDF]

, 2019
Duchenne muscular dystrophy (DMD) is characterized by degeneration and atrophy of skeletal, cardiac, and smooth muscles after a latent period of apparently normal development and function. The gastrointestinal manifestations start in the second decade of
Dhaliwal, Amaninder, Dhindsa, Banreet S., Hassen, Getaw W., Madiraju, Sarvani, Rochling, Fedja A.   +4 more
core   +2 more sources

Exercise Training in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis

Journal of Rehabilitation Medicine, 2022
Objective: To evaluate the effects and safety of exercise training, and to determine the most effective exercise intervention for people with Duchenne muscular dystrophy.
Stian Hammer, Michel Toussaint, Maria Vollsæter, Marianne Nesbjørg Tvedt, Ola Drange Røksund, Gregory Reychler, Hans Lund, Tiina Andersen   +7 more
doaj   +1 more source

Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using Campylobacter jejuni Cas9 [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle wasting disease caused by mutations in the DMD gene. In 51% of DMD cases, a reading frame is disrupted because of deletion of several exons.
Cappellari, O, Cho, H-Y, Dickson, G, Kim, D, Kim, E, Kim, J-S, Koo, T, Lu-Nguyen, N B, Malerba, A, Popplewell, L   +9 more
core   +2 more sources

Genetic modifiers of ambulation in the cooperative international Neuromuscular Research Group Duchenne natural history study [PDF]

, 2015
OBJECTIVE: We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort.
Andreone, Luz, Bello, Luca, Cnaan, Avital, Cooperative International Neuromuscular Research Group Investigators, Dubrovsky, Alberto, Duong, Tina, Gordish Dressman, Heather, Henricson, Erik K., Hoffman, Eric P., Kesari, Akanchha, McDonald, Craig M., Morgenroth, Lauren P., Pegoraro, Elena, Punetha, Jaya   +13 more
core   +1 more source

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment? [PDF]

PLoS ONE, 2018
This study aimed at comparing implicit sequence learning in individuals affected by Duchenne Muscular Dystrophy without intellectual disability and age-matched typically developing children.
Stefano Vicari, Giorgia Piccini, Eugenio Mercuri, Roberta Battini, Daniela Chieffo, Sara Bulgheroni, Chiara Pecini, Simona Lucibello, Sara Lenzi, Federica Moriconi, Marika Pane, Adele D'Amico, Guja Astrea, Giovanni Baranello, Daria Riva, Giovanni Cioni, Paolo Alfieri   +16 more
doaj   +1 more source

Health-related quality of life and functional changes in DMD:A 12-month longitudinal cohort study [PDF]

, 2016
Family caregivers of people with amyotrophic lateral sclerosis (ALS) live stressful lives in which they spend most of their time caring for their loved ones and managing difficult situations, thereby reducing the time spent in taking care of themselves ...
Baranello, G, Barcellona, C, Berardinelli, A., Bertini, E, Bruno, C, D\u2019Amico, A, D\u2019Angelo, M. G., Distefano, M. G., La Rosa, M, Marcato, S, Mazzone, E, Mercuri, E., Messina, S, Minetti, C, Mongini, T, Morandi, L, Palmieri, Arianna, Pane, M, Pegoraro, Elena, Politano, L, Rodolico, C, Scutifero, M, Sframeli M., Mondello S, Vita G., L, Vita, E   +24 more
core   +1 more source

The quality of life in boys with Duchenne muscular dystrophy [PDF]

, 2016
We conducted a study to evaluate the quality of life in boys with Duchenne muscular dystrophy aged 8–18 years, compared with that in matched healthy controls. A total of 85 boys with Duchenne muscular dystrophy aged 8–18 years and 136 age, sex and living
Ashrafi, M.R., Azizi Malamiri, R., Fathi, M.R., Heidari, M., Hosseini, S.A., Mohammadi, M., Qorbani, M., Salehi, S., Shahrokhi, A., Shervin Badv, R., Zamani, G.   +10 more
core   +1 more source

Cardiac function associated with home ventilator care in Duchenne muscular dystrophy [PDF]

Korean Journal of Pediatrics, 2018
PurposeCardiomyopathy is becoming the leading cause of death in patients with Duchenne muscular dystrophy because mechanically assisted lung ventilation and assisted coughing have helped resolve respiratory complications.
Sangheun Lee, Heeyoung Lee, Lucy Youngmin Eun, Seung Woong Gang   +3 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