Results 131 to 140 of about 42,113 (251)
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. [PDF]
, 1989 Shirley Hodgson +6 more
openalex +1 more source
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 +9 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 +8 more
openalex +1 more source
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 +17 more
wiley +1 more source
RFLP for Duchenne muscular dystrophy cDNA clone 44-1 [PDF]
, 1988 Nigel G. Laing +7 more
openalex +1 more source
Temporal Dynamics of a Neotropical Plant‐Hummingbird Interaction Network
Austral Ecology, Volume 50, Issue 7, July 2025.Using an unprecedented sampling effort we evaluated network structure and dynamics of plant‐hummingbird interactions over 1 year in the Brazilian hyperdiverse Campos Rupestres. Network structure presented remarkable temporal change, showing that tropical communities can also be strongly influenced by climate.
Steffani N. P. Queiroz +7 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 +5 more
openalex +1 more source
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 +10 more
wiley +1 more source
Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy [PDF]
, 1989 Roland G. Roberts +4 more
openalex +1 more source