I. Mahjneh
Oulu University Hospital(FI)University of Oulu(FI)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, Cardiomyopathy and Myosin Studies, Mitochondrial Function and Pathology, Nuclear Structure 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)681 cited
- → Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development(1999)295 cited
- → Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies(2010)280 cited
- → Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy(2012)274 cited
- → The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone(2005)241 cited
- → A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p(1994)194 cited
- → Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)(2000)164 cited
- → Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations(2001)94 cited
- → Hereditary myopathy with early respiratory failure: occurrence in various populations(2013)85 cited
- → Patients with a Non‐dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect(2006)64 cited