Publications by authors named "Raffaele Castello"

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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Matthew A Lines, Paula Goldenberg, Ashley Wong, Siddharth Srivastava, Allan Bayat, Raffaele Castello

Am J Med Genet A· June 2022

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Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.
Claudia Ciaccio, Valentina Duga, Chiara Pantaleoni, Silvia Esposito, Isabella Moroni, Raffaele Castello

Eur J Med Genet· January 2021

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Abnormal cerebellar foliation in mutation.
Stefano D'Arrigo, Marco Moscatelli, Claudia Ciaccio, Chiara Pantaleoni, Raffaele Castello

Neurology· May 2020

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Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With Variant.
Luca Pollini, Serena Galosi, Francesca Nardecchia, Francesco Musacchia, Raffaele Castello

Mov Disord Clin Pract· January 2020

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Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).
Claudia Ciaccio, Raffaele Castello, Silvia Esposito, Michele Pinelli, Vincenzo Nigro

Cerebellum· October 2019

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Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.
Marcello Scala, Annalaura Torella, Mariasavina Severino, Giovanni Morana, Raffaele Castello

Eur J Hum Genet· August 2019

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Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.
Gerarda Cappuccio, Raffaella Brunetti-Pierri, Annalaura Torella, Michele Pinelli, Raffaele Castello

Mol Genet Genomic Med· June 2019

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Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.
Andrea Accogli, Marcello Scala, Annalisa Calcagno, Raffaele Castello, Annalaura Torella

Am J Med Genet A· December 2018

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Down-regulation of hepatocyte nuclear factor-4α and defective zonation in livers expressing mutant Z α1-antitrypsin.
Pasquale Piccolo, Patrizia Annunziata, Leandro R Soria, Sergio Attanasio, Anna Barbato, Raffaele Castello

Hepatology· July 2017

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Activation of the c-Jun N-terminal kinase pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin.
Nunzia Pastore, Sergio Attanasio, Barbara Granese, Raffaele Castello, Jeffrey Teckman

Hepatology· June 2017

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In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis.
Roberto Pagliarini, Raffaele Castello, Francesco Napolitano, Roberta Borzone, Patrizia Annunziata

Cell Rep· June 2016

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