Ruth Bargal

Identification of the gene causing mucolipidosis type IV

Ruth Bargal, Nili Avidan, Edna Ben‐Asher et al. · Nature Genetics · 2000 · 398 citations

Disease Mechanism, Pathogenesis, Pathology +4

Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase

Stephan Tiede, Stephan Storch, Torben Lübke et al. · Nature Medicine · 2005 · 209 citations · Full text

Signal Transduction, α/β Glcnac-1-phosphotransferase, Disease Mechanism +10

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

Ruth Bargal, Valérie Cormier‐Daire, Ziva Ben‐Neriah et al. · The American Journal of Human Genetics · 2008 · 107 citations · Full text

Mendelian Disorder, Short Limbs, Genetic Disorder +10

The clinical spectrum of fetal Niemann–Pick type C

Ronen Spiegel, Annick Raas‐Rothschild, Orit Reish et al. · American Journal of Medical Genetics Part A · 2009 · 94 citations

Fetal Medicine, Gynecology, Pathology +17

Mucolipidosis type IV: NovelMCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

Ruth Bargal, Nili Avidan, Tzvia Olender et al. · Human Mutation · 2001 · 86 citations