Raymonde Szargel

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Hanna Mandel, Raymonde Szargel, Valentina Labay et al. · Nature Genetics · 2001 · 582 citations

Mitochondrial Function, Natural Sciences, Genetics +7

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

Valentina Labay, Tal Raz, Dana Baron et al. · Nature Genetics · 1999 · 273 citations

Mendelian Disorder, Genetic Disorder, Genetics +9

Ubiquitylation of synphilin-1 and α-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease

Esti Liani, Allon Eyal, Eyal Avraham et al. · Proceedings of the National Academy of Sciences · 2004 · 188 citations · Full text

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

Eli Sprecher, Gabriele Richard, Raziel Lurie et al. · Nature Genetics · 2001 · 184 citations

Ocular Disease, Ophthalmology, Pathology +5

A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes

Israel Zelikovic, Raymonde Szargel, Ali Hawash et al. · Kidney International · 2003 · 180 citations

Novel Mutation, Channelopathies, Mendelian Disorder +7