Karim Ouahchi
Medical Research Associates(US)
Publications by Year
Research Areas
Amyotrophic Lateral Sclerosis Research, Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research, Neurological diseases and metabolism
Most-Cited Works
- → The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis(2001)731 cited
- → Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein(1995)567 cited
- → Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families(1998)308 cited
- → Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration(2008)184 cited
- → Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers(1998)169 cited
- → Phenotypic Features and Genetic Findings in Sacsin-Related Autosomal Recessive Ataxia in Tunisia(2003)107 cited
- → Erratum: The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis(2001)75 cited
- Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families.(1995)
- → Copy Number Variants and Pharmacogenomics(2005)51 cited
- → Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity(2008)39 cited