Results 21 to 30 of about 27,913 (221)

Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

Journal of Medical Case Reports, 2011
Introduction Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare.
Kaur Jasmeet, Sharma Sanjeevan, Sharma Ajay, Das Satyaranjan, Nair Velu, Mishra DK   +5 more
doaj   +1 more source

Palliative care services in families of males with muscular dystrophy: Data from MD STARnet

SAGE Open Medicine, 2019
Introduction: Information on use of palliative care services among individuals with Duchenne and Becker muscular dystrophy is scant despite the clearly documented need.
Jennifer G Andrews, Shree Pandya, Christina Trout, Treeva Jaff, Dennis Matthews, Christopher Cunniff, F John Meaney   +6 more
doaj   +1 more source

Generation of three Duchenne muscular dystrophy patient-derived induced pluripotent stem cell (iPSC) lines ICGi002-A, ICGi002-B and ICGi002-C

Stem Cell Research, 2020
Duchenne muscular dystrophy (DMD) is a severe and rapidly progressive hereditary muscular disease with X-linked recessive inheritance, occurring mainly in males.
K.R. Valetdinova, M.A. Maretina, Y.V. Vyatkin, M.P. Perepelkina, A.A. Egorova, V.S. Baranov, A.V. Kiselev, P.M. Gershovich, S.M. Zakian   +8 more
doaj   +1 more source

Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model

Journal of Patient-Reported Outcomes, 2021
Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams, Ian Davidson, Mark Rance, Axel Boehnke, Katharina Buesch, Sarah Acaster   +5 more
doaj   +1 more source

Nanotherapy for Duchenne muscular dystrophy

WIREs Nanomedicine and Nanobiotechnology, 2017
Duchenne muscular dystrophy (DMD) is a lethal X‐linked childhood muscle wasting disease caused by mutations in the dystrophin gene. Nanobiotechnology‐based therapies (such as synthetic nanoparticles and naturally existing viral and nonviral nanoparticles) hold great promise to replace and repair the mutated dystrophin gene and significantly change the ...
Michael E, Nance, Chady H, Hakim, N Nora, Yang, Dongsheng, Duan   +3 more
openaire   +3 more sources

Heart failure in Duchenne's progressive muscular dystrophy (case report)

Евразийский Кардиологический Журнал
Progressive Duchenne muscular dystrophy is a common X-linked recessive myopathy caused by a mutations in the gene encoding dystrophin. Duchenne muscular dystrophy is characterized by damage to the heart muscle with conduction and rhythm disturbances, and
S. D. Mayanskaya, O. V. Bulashova, E. I. Mukhitova, E. V. Khazova   +3 more
doaj   +1 more source

Distrofias musculares en el paciente adulto

Revista Médica Clínica Las Condes, 2018
RESUMEN: Las distrofias musculares son un grupo de trastornos hereditarios, degenerativos, progresivos del músculo estriado, cuya manifestación cardinal es la debilidad de la musculatura estriada esquelética.
Nicholas Earle, MD, Jorge A. Bevilacqua, MD, PhD   +1 more
doaj   +1 more source

Induced Pluripotent Stem Cells for Duchenne Muscular Dystrophy Modeling and Therapy

Cells, 2018
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, caused by mutation of the DMD gene which encodes the protein dystrophin. This dystrophin defect leads to the progressive degeneration of skeletal and cardiac muscles.
Lubos Danisovic, Martina Culenova, Maria Csobonyeiova   +2 more
doaj   +1 more source

Using Synthetic Glycans to Investigate Anti‐Glycan Antibodies and Explore Their Medical Potential

Angewandte Chemie International Edition, EarlyView.
Anti‐glycan antibodies are essential in health and disease. Access to novel glycan structures paves the way for progress in antibody profiling for biomarker discovery, antibody development, and vaccine design. We summarize the strategies to synthesize and utilize synthetic glycans for the development and application of anti‐glycan antibodies in basic ...
Fabienne Weber, Aina Valenti, Jiří Ledvinka, Oren Moscovitz, Peter H. Seeberger   +4 more
wiley   +1 more source

A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy

Journal of Patient-Reported Outcomes, 2021
Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams, Ian Davidson, Mark Rance, Katharina Buesch, Sarah Acaster   +4 more
doaj   +1 more source