I. Mahjneh

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan et al. · Nature Genetics · 1998 · 679 citations

Spermatogenesis, Developmental Biology, Genetic Disorder +10

Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development

Louise V.B. Anderson, Kenneth Davison, Jessica Moss et al. · Human Molecular Genetics · 1999 · 292 citations

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

Véronique Bolduc, Gareth Marlow, Kym M. Boycott et al. · The American Journal of Human Genetics · 2010 · 280 citations · Full text

Channelopathies, Molecular Physiology, Cause Proximal Lgmd2l +8

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

J. Sarparanta, Per Harald Jonson, Christelle Golzio et al. · Nature Genetics · 2012 · 272 citations

Genome Instability, Skeletal Muscle, Genetics +7

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Anna‐Kaisa Anttonen, I. Mahjneh, Riikka H. Hämäläinen et al. · Nature Genetics · 2005 · 241 citations

Autoimmune Disease, Genetic Disorder, Genetics +8