Claudio Castellan

CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger, Daphne Gamer, Herbert Jägle et al. · The American Journal of Human Genetics · 2001 · 321 citations · Full text

Photoreceptor Cell, Ophthalmology, Genetic Disorder +5

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Susanne Kohl, Balázs Varsányi, Gesine Abadin Antunes et al. · European Journal of Human Genetics · 2004 · 244 citations · Full text

Autosomal Recessive Achromatopsia, Mendelian Disorder, Genetic Disorder +7

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype

Christine Klein, Peter P. Pramstaller, Bernhard Kis et al. · Annals of Neurology · 2000 · 221 citations

Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

Lucia Valente, Valeria Tiranti, Renè Massimiliano Marsano et al. · The American Journal of Human Genetics · 2006 · 199 citations · Full text

Infantile Encephalopathy, Mitochondrial Biogenesis, Mitochondrial Function +7

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

Tamio Suzuki, Wei Li, Qing Zhang et al. · Nature Genetics · 2002 · 181 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +9