Results 111 to 120 of about 71,159 (294)

The UK myotonic dystrophy patient registry: facilitating and accelerating clinical research [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the ...
Atalaia, Antonio, Cordts, Isabell, Hammans, Simon, Hilton-Jones, David, Jimenez-Moreno, Aura Cecilia, Lochmüller, Hanns, Maddison, Paul, Marini-Bettolo, Chiara, Monckton, Darren G., Nikolenko, Nikoletta, Orrell, Richard, Petty, Richard, Phillips, Margaret, Roberts, Mark, Rogers, Mark, Straub, Volker, Thompson, Rachel, Turner, Chris, Wood, Libby   +18 more
core   +4 more sources

Muscular Dystrophy (Duchenne) in a Girl with Turner's Syndrome [PDF]

, 1965
Pierre Ferrier, F. Bamatter, David C. Klein   +2 more
openalex   +1 more source

CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential

Cell Proliferation, EarlyView.
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far, Marziyeh Akbari, Mohammad Amin Habibi, Morteza Katavand, Sherko Nasseri   +4 more
wiley   +1 more source

Studies of the carrier state in the Duchenne type of muscular dystrophy. I. Effect of exercise on serum creatine kinase activity. [PDF]

, 1967
P. Hudgson, D. Gardner‐Medwin, R. J. Pennington, J. N. Walton   +3 more
openalex   +1 more source

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental Medicine &Child Neurology, EarlyView.
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo, Fleur Vansenne, Jessika F. van Hoorn, Marina A. J. Tijssen, Dineke S. Verbeek, Deborah A. Sival   +5 more
wiley   +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 ...
Dongsheng Duan, Michael E. Nance, Chady H. Hakim, Chady H. Hakim, N. Nora Yang   +4 more
openaire   +4 more sources

Height, weight, and body mass index trajectories and their correlation with functional outcome assessments in boys with Duchenne muscular dystrophy

Developmental Medicine &Child Neurology, EarlyView.
The analysis of height, weight, and BMI z‐score trajectories in boys with DMD from the FOR‐DMD study showed that higher baseline height was associated with slower subsequent growth, and older age with greater weight gain after glucocorticoid initiation.
Marianela Schiava, Utkarsh J. Dang, Claire Wood, Sze Choong Wong, Leanne M. Ward, Robert Muni Lofra, Anna Mayhew, William B. Martens, Stephanie Gregory, Robert C. Griggs, Michela Guglieri, on behalf of the FOR‐DMD Muscle Study Group, Adnan Manzur, Amos Rachel, Andrea Gangfuss, Anne Marie Childs, Ashutosh Kumar, Barbara E. Herr, Basil T. Darras, Chris Speed, Craig Campbell, Craig M. McDonald, Ekkehard Wilichowski, Elaine McColl, Elena Pegoraro, Emma Ciafaloni, Erik K. Henricson, Federica Ricci, Gian Luca Vita, Giovanni Baranello, Giuseppe Vita, Helen Roper, Hugh J. McMillan, Iain A. Horrocks, Imelda Hughes, James F. Howard, Janbernd Kirschner, Jay J. Han, Jean K. Mah, Jeffrey M. Statland, Jennifer Wilkinson, Kate Bushby, Kathleen O’Reardon, Kevin M. Flanigan, Kimberly A. Hart, Leslie Morrison, Lorenzo Maggi, Luca Bello, Maja von der Hagen, Mary W. Brown, Mathula Thangarajh, Matthew Wicklund, Michael P. McDermott, Michelle Eagle, Monika Krzesniak‐Swinarska, Nancy L. Kuntz, Nanette Joyce, Perry B. Shieh, Peter B. Kang, Rabi Tawil, Richard J. Barohn, Richard S. Finkel, Russell J. Butterfield, Stefan Spinty, Taeun Chang, Tiziana E. Mongini, Tracey Willis, Ulrike Schara‐Schmidt, Volker Straub, W. Bryan Burnette, Wendy M. King, Zoya Alhaswani   +71 more
wiley   +1 more source

A possible role for electron microscopy in detection of carriers of Duchenne type muscular dystrophy [PDF]

, 1973
Adel K. Afifi, Ronald A. Bergman, H Zellweger   +2 more
openalex   +1 more source

ST-segment elevation acute coronary syndrome in a child with Duchenne muscular dystrophy: a case report

Российский кардиологический журнал
Introduction. Duchenne muscular dystrophy is an X-linked muscle disorder caused by the dystrophin absence. This leads to the death of muscle cells and cardiomyocytes and their subsequent replacement with adipose and fibrous tissue.
Z. G. Tatarintseva, O. V. Babicheva, K. O. Barbuhatti   +2 more
doaj   +1 more source

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. [PDF]

, 1979
R H Lindenbaum, Geoffrey D Clarke, Chirag Patel, Marc Moncrieff, John T. Hughes   +4 more
openalex   +1 more source