Results 161 to 170 of about 68,781 (284)

Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups

JIMD Reports, Volume 66, Issue 4, July 2025.
ABSTRACT Primary mitochondrial diseases (PMD) are caused by pathogenic variants in over 350 genes, 37 of which are located in mitochondrial DNA (mtDNA). While more than 100 mtDNA variants have confirmed disease associations, there are few reports of mtDNA‐related PMD in patients with African heritage, even in well‐studied populations.
Surita Meldau, Elizabeth M. McCormick, Ibrahim George‐Sankoh, Gillian T. Riordan, Kashief Khan, Laura E. MacMullen, Shrinav Dawlat, Dee Blackhurst, Marni J. Falk, Joanna L. Elson   +9 more
wiley   +1 more source

The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. [PDF]

, 1983
Peter S. Harper, T O'Brien, Jeffrey Murray, Kay E. Davies, P. Pearson, R. Williamson   +5 more
openalex   +1 more source

Incorporation of Patient and Public Involvement in Statistical Methodology Research: Summary of Workshop Proceedings

Statistics in Medicine, Volume 44, Issue 15-17, July 2025.
ABSTRACT Patient and Public Involvement (PPI) is well‐established in applied health research but remains under utilised in statistical methodology research due to perceived irrelevance and communication challenges. This paper summarises a one‐day workshop held in February 2024 in Leicester, organised by the University of Leicester and the NIHR ...
Aiden Smith, Hannah Worboys, Samina Begum, Derrick Bennett, Jonathan Broomfield, Suzie Cro, Laura Evans‐Hill, Justin Greenwood, Ania Henley, Mary Mancini, Kara‐Louise Royle, Helen Saul, Jamie Sergeant, Derek Stewart, Freya Tyrer, James Wason, Christopher Yau, Laura J. Gray   +17 more
wiley   +1 more source

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. [PDF]

, 1989
Edward R.B. McCabe, Jeffrey A. Towbin, Jeffrey S. Chamberlain, L. Baumbach, Jan Witkowski, G J van Ommen, M. Kœnig, Louis M. Kunkel, William Seltzer   +8 more
openalex   +1 more source

High‐throughput screening identifies bazedoxifene as a potential therapeutic for dysferlin‐deficient limb girdle muscular dystrophy

British Journal of Pharmacology, Volume 182, Issue 13, Page 2930-2949, July 2025.
Abstract Background and Purpose Limb‐girdle muscular dystrophy R2 (LGMD R2) is a rare genetic disorder characterised by progressive weakness and wasting of proximal muscles. LGMD R2 is caused by the loss of function of dysferlin, a transmembrane protein crucial for plasma membrane repair in skeletal muscles.
Celine Bruge, Nathalie Bourg, Emilie Pellier, Johana Tournois, Jerome Polentes, Manon Benabides, Noella Grossi, Anne Bigot, Anthony Brureau, Isabelle Richard, Xavier Nissan   +10 more
wiley   +1 more source

Natural Course of Cardiomyopathy in Duchenne Muscular Dystrophy : SYMPOSIUM ON SECONDARY MYOCARDIAL DISEASE : 44th Scientific Session of the Japanise Circulation Society

, 1979
Hiromitsu Tanaka, Seiji Nishi, H. Katanasako   +2 more
openalex   +2 more sources

Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy [PDF]

, 1989
Roland G. Roberts, C Cole, K Hart, Martin Bobrow, D. R. Bentley   +4 more
openalex   +1 more source

Intelligent Manufacturing for Osteoarthritis Organoids

Cell Proliferation, Volume 58, Issue 7, July 2025.
Overall schematic of intelligent manufacturing in osteoarthritis organoids. Broad overview of the article's structure, outlining the progression from fundamental joint anatomy and OA pathogenesis to organoid construction and, ultimately, to intelligent manufacturing and future prospects.
Xukun Lyu, Jian Wang, Jiacan Su
wiley   +1 more source

No sex difference in mutations rates of Duchenne muscular dystrophy. [PDF]

, 1980
N. Yasuda, K Kondo
openalex   +1 more source

Psychometric evaluation of the PROMIS parent proxy mobility item bank for use in Duchenne muscular dystrophy

Developmental Medicine &Child Neurology, Volume 67, Issue 7, Page 918-929, July 2025.
Abstract Aim To evaluate the psychometric properties and measurement quality of the Patient‐Reported Outcomes Measurement Information System Parent Proxy (PROMIS PP) Mobility item bank (v1.0, 23 items) for children with Duchenne muscular dystrophy (DMD), through Rasch statistical analysis. Method De‐identified PROMIS PP Mobility items were completed by
Linda Pax Lowes, Corinne M. Le Reun, Lindsay N. Alfano, Natalie F. Reash, Megan A. Iammarino, Shivangi Patel, Ivana F. Audhya   +6 more
wiley   +1 more source