Raffaele Castello

Pozzuoli, Italy

Last Updated: 09/26/2026

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Found 12 publications

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Journal: Genetics in medicine open

Published: May 05, 2025

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

Journal: American journal of medical genetics. Part A

Published: October 20, 2021

Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.

Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.

Journal: European journal of medical genetics

Published: June 24, 2020

Abnormal cerebellar foliation in EBF3 mutation.

Abnormal cerebellar foliation in EBF3 mutation.

Journal: Neurology

Published: May 06, 2020

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).

Journal: Cerebellum (London, England)

Published: August 15, 2019

Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant.

Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant.

Journal: Movement disorders clinical practice

Published: July 28, 2019

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

Journal: Molecular genetics & genomic medicine

Published: February 22, 2019

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.

Journal: European journal of human genetics : EJHG

Published: October 18, 2018

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.

Journal: American journal of medical genetics. Part A

Published: April 03, 2018

Down-regulation of hepatocyte nuclear factor-4α and defective zonation in livers expressing mutant Z α1-antitrypsin.

Down-regulation of hepatocyte nuclear factor-4α and defective zonation in livers expressing mutant Z α1-antitrypsin.

Journal: Hepatology (Baltimore, Md.)

Published: December 18, 2016

Activation of the c-Jun N-terminal kinase pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin.

Activation of the c-Jun N-terminal kinase pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin.

Journal: Hepatology (Baltimore, Md.)

Published: November 02, 2016

In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis.

In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis.

Journal: Cell reports

Published: April 23, 2015

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Last Updated: 09/26/2026