COVIELLO D. A.

Last name: COVIELLO D. A.

1997 (v1)

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Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women

Origone P. Di Maria E. Carabbio C.

Advances in genetics have created promising possibilities for the diagnosis and prevention of genetic disease. To investigate the information among female population about prenatal diagnostic technologies, the availability of genetic centres and to evaluate the approach of women towards ethical aspects related to genetic diseases, we...

Uploaded on: May 12, 2023
2012 (v1)

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Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations

Canafoglia L. Gennaro E. Capovilla G.

Purpose: Unverricht-Lundborg disease (EPM1A) is frequently due to an unstable expansion of a dodecamer repeat in the CSTB gene, whereas other types of mutations are rare. EPM1A due to homozygous expansion has a rather stereotyped presentation with prominent action myoclonus. We describe eight patients with five different compound heterozygous...

Uploaded on: April 14, 2023
2013 (v1)

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Erratum: Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations (Epilepsia (2012) 53 (2120-2127))

Canafoglia L. Gennaro E. Capovilla G.

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Uploaded on: February 14, 2024

COVIELLO D. A.

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