CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger, Daphne Gamer, Herbert Jägle, +26

The American Journal of Human Genetics

Photoreceptor CellOphthalmologyGenetic DisorderGeneticsCnga3 Mutations +3

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

Susanne Kohl, Balázs Varsányi, Gesine Abadin Antunes, +25

European Journal of Human Genetics

Autosomal Recessive AchromatopsiaMendelian DisorderGenetic DisorderGeneticsClinical Genetics +5

Cerebral Visual Impairment in Periventricular Leukomalacia*

G. Lanzi, Elisa Fazzi, C. Uggetti, +6

Neuropediatrics

Oculomotor dysfunction in cerebral visual impairment following perinatal hypoxia

R. Salati, Renato Borgatti, Giuseppina Giammari, +1

Developmental Medicine & Child Neurology

Eye MotilityCerebral Visual ImpairmentBrain InjuryNeurologyHealth Sciences +14

Oculomotor dysfunction in cerebral visual impairment following perinatal hypoxia

R. Salati, Renato Borgatti, Giuseppina Giammari, +1

Developmental Medicine & Child Neurology

Eye MotilityCerebral Visual ImpairmentOphthalmologyNeurophysiologyMedicine +13

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene

Alessandra Tonelli, Maria Grazia D’Angelo, R. Salati, +7

Journal of the Neurological Sciences

Cacna1a GeneMolecular NeuroscienceEarly OnsetGenetic DisorderGenetics +7

Medical treatment of biliary duct stones: effect of ursodeoxycholic acid administration.

Gianfranco Salvioli, R. Salati, R. Lugli, +1

Gut

Biliary Duct StonesGastroenterologySurgeryPrimary Biliary CirrhosisCholangiopathies +16

Large deletions of the<i>KCNV2</i>gene are common in patients with cone dystrophy with supernormal rod response

Bernd Wissinger, Simone Schaich, Britta Baumann, +24

Human Mutation

ChannelopathiesOcular DiseaseRetinaOphthalmologyGenetic Disorder +10

Faecal bile acid loss and bile acid pool size during short-term treatment with ursodeoxycholic and chenodeoxycholic acid in patients with radiolucent gallstones.

Gianfranco Salvioli, R. Salati

Gut

NutritionFaecal RadioactivityGastroenterologyCholangiopathiesBiliary Disorder +14

Changes in the Optic Disc Excavation of Children Affected by Cerebral Visual Impairment: A Tomographic Analysis

Giulio Ruberto, R. Salati, Giovanni Milano, +8

Investigative Ophthalmology & Visual Science