Ivo Kremensky
Publications by Year
Research Areas
Muscle Physiology and Disorders, Metabolism and Genetic Disorders, Scoliosis diagnosis and treatment, Hereditary Neurological Disorders, RNA Research and Splicing
Most-Cited Works
- → Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V(2003)559 cited
- → Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy(2004)417 cited
- → Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy(2006)369 cited
- → Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome(2003)142 cited
- → Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts(2015)119 cited
- → A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)(1999)78 cited
- → SSCP analysis: A blind sensitivity trial(1997)74 cited
- → SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve(2004)70 cited
- → Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35(2003)70 cited
- → The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?(2016)67 cited