Rumaisa Bashir

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2B (2008)

Patel, Pryank, Harris, Richard, Geddes, Stella M., Strehle, Eugen-Matthias, Watson, James D., Bashir, Rumaisa, ...

Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2...

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2B (2008)

Patel, Pryank, Harris, Richard, Geddes, Stella M., Strehle, Eugen-Matthias, Watson, James D., Bashir, Rumaisa, ...

Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2...

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)

Brockington, Martin, Yuva, Yeliz, Prandini, Paola, Brown, Susan C., Torelli, Silvia, Benson, Matthew A., ...

The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic muscle changes. The onset of symptoms in CMD is within the first few...

Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families

Inglehearn, Chris F., Lester, Douglas H., Bashir, Rumaisa, Atif, Uzma, Keen, T. Jeffrey, Sertedaki, Amalia, ...

Autosomal dominant retinitis pigmentosa (adRP) has shown linkage to the chromosome 3q marker C17 (D3S47) in two large adRP pedigrees known as TCDM1 and adRP3. On the basis of this evidence the...

Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families

Inglehearn, Chris F., Lester, Douglas H., Bashir, Rumaisa, Atif, Uzma, Keen, T. Jeffrey, Sertedaki, Amalia, ...

Autosomal dominant retinitis pigmentosa (adRP) has shown linkage to the chromosome 3q marker C17 (D3S47) in two large adRP pedigrees known as TCDM1 and adRP3. On the basis of this evidence the...