Rumaisa Bashir
Durham University(GB)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, Adipose Tissue and Metabolism, Nuclear Structure and Function, Ion channel regulation and function
Most-Cited Works
- → A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B(1998)682 cited
- → Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies(2010)280 cited
- → Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B(1999)213 cited
- → Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)(2000)164 cited
- → Investigation of the role of polymorphisms at the alcohol and aldehyde dehydrogenase loci in genetic predisposition to alcohol-related end-organ damage(1991)158 cited
- → A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis piamentosa(1992)152 cited
- → A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p(1993)119 cited
- → Muscular dystrophy due to dysferlin deficiency in Libyan Jews(2000)107 cited
- → Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy(2012)71 cited
- → ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation(2013)70 cited