Publications by Dr Rumaisa Bashir - ePrints

Browsing publications by Dr Rumaisa Bashir.

Newcastle Authors	Title	Year
Dr Anna Sarkozy Dr Debbie Hicks Dr Steven Laval Dr Rita Barresi Dr Lizzie Harris et al.	ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation	2013
Dr Anna Sarkozy Dr Rumaisa Bashir Dr Debbie Hicks Dr Rita Barresi Dr Steven Laval et al.	The first UK family with Ano5-associated myopathy	2010
Rebecca Harrison Dr Steven Laval Dr Rumaisa Bashir Emerita Professor Katherine Bushby	Characterisation of the dysferlin muscle promoter	2001
Dr Elizabeth Vafiadaki Dr Alexandra Reis Ruth Harrison Dr Louise VB Anderson Emerita Professor Katherine Bushby et al.	Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation	2001
Dr Louise VB Anderson Dr Rumaisa Bashir Professor Volker Straub Emerita Professor Katherine Bushby	Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C	2001
Dr Rumaisa Bashir Emerita Professor Katherine Bushby	Muscular dystrophy due to dysferlin deficiency in Libyan Jews - Clinical and genetic features	2000
Dr Rumaisa Bashir Emerita Professor Katherine Bushby	Muscular dystrophy due to dysferlin deficiency in Libyan Jews: Clinical and genetic features.	2000
Dr Janet Lindsey Dr Meryl Lusher Dr Kathleen White Dr Rumaisa Bashir Professor Pamela Shaw et al.	Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis	2000
Dr Louise VB Anderson Ruth Harrison Dr Robert Pogue Dr Elizabeth Vafiadaki Jennifer Moss et al.	Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)	2000
Stephen Britton Dr Elizabeth Vafiadaki Sharon Foster Rebecca Harrison Emerita Professor Katherine Bushby et al.	The third human FER-1-like protein is highly similar to dysferlin	2000
Dr Louise VB Anderson Dr Rumaisa Bashir Dr Elizabeth Vafiadaki Rebecca Harrison Emerita Professor Katherine Bushby et al.	Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B	1999
Dr Louise VB Anderson Jennifer Moss Dr Michael Cullen Dr Margaret Johnson Dr Rumaisa Bashir et al.	Dysferlin is a plasma membrane protein and is expressed early in human development	1999
Dr Rumaisa Bashir Dr Louise VB Anderson Jennifer Moss Stephen Britton Dr Elizabeth Vafiadaki et al.	Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)	1999
Dr Rumaisa Bashir Emerita Professor Katherine Bushby	Identical mutation in the dysferlin gene can cause either a limb girdle muscular dystrophy Type 2B or a Miyoshi myopathy phenotype.	1999
Emerita Professor Katherine Bushby Dr Louise VB Anderson Dr Rumaisa Bashir	Merosin-positive congenital muscular dystrophy: a large inbred family	1999
Dr Louise VB Anderson Dr Rumaisa Bashir Dr Elizabeth Vafiadaki Jennifer Moss Rebecca Harrison et al.	Redesignation of the SJL mouse (SJL-dysf) as a model for human dysferlin-deficient muscle disorders	1999
Simon Carter Dr Janet Lindsey Dr Rumaisa Bashir	A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p	1993