Leonardo D'agruma

San Giovanni Rotondo, Italy

Last Updated: 09/26/2026

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Found 34 publications

From electroclinical phenotype to adult SCN1A diagnosis: Insights from the correspondence between Carlo Alberto Tassinari and Charlotte Dravet.

From electroclinical phenotype to adult SCN1A diagnosis: Insights from the correspondence between Carlo Alberto Tassinari and Charlotte Dravet.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: May 29, 2026

Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy.

Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy.

Journal: Epilepsia open

Published: May 10, 2026

Lifetime Risk of First Symptomatic ICH or Seizure in Familial Cerebral Cavernous Malformations: A Multicenter Patient Data Analysis.

Lifetime Risk of First Symptomatic ICH or Seizure in Familial Cerebral Cavernous Malformations: A Multicenter Patient Data Analysis.

Journal: Neurology

Published: July 10, 2025

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies.

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies.

Journal: American journal of medical genetics. Part A

Published: February 16, 2025

Markedly raised CA 19-9 levels in an asymptomatic patient: the role of Helicobacter pylori infection.

Markedly raised CA 19-9 levels in an asymptomatic patient: the role of Helicobacter pylori infection.

Journal: Minerva gastroenterology

Published: June 06, 2024

A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.

A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.

Journal: Minerva endocrinology

Published: May 14, 2021

Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.

Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.

Journal: Clinical genetics

Published: January 18, 2021

Genetic analysis of genes associated with epilepsy.

Genetic analysis of genes associated with epilepsy.

Journal: Acta bio-medica : Atenei Parmensis

Published: September 04, 2020

Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.

Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.

Journal: Acta bio-medica : Atenei Parmensis

Published: August 25, 2020

Complications related to in vitro reproductive techniques support the implementation of natural procreative technologies.

Complications related to in vitro reproductive techniques support the implementation of natural procreative technologies.

Journal: Acta bio-medica : Atenei Parmensis

Published: August 25, 2020

Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial.

Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial.

Journal: Trials

Published: July 04, 2019

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA).

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA).

Journal: Stem cell research

Published: June 05, 2019

Showing 1-12 of 34

Last Updated: 09/26/2026