Publications by authors named "Simona Scala"

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New variants and genotype-phenotype correlation in mutation: the contribution of a large Italian cohort.
Rosangela Ferese, Antonio Suppa, Rosa Campopiano, Simona Scala, Federica Sammarone

J Med Genet· September 2025

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Cohort analysis of novel variants in SPG4 patients and implementation of and studies to identify the pathogenic mechanism caused by splicing mutations.
Rosangela Ferese, Simona Scala, Antonio Suppa, Rosa Campopiano, Francesco Asci

Front Neurol· December 2023

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Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).
Rosangela Ferese, Simona Scala, Antonio Suppa, Rosa Campopiano, Francesco Asci

Clin Genet· August 2022

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Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.
Rosangela Ferese, Rosa Campopiano, Simona Scala, Carmelo D'Alessio, Marianna Storto

Front Genet· July 2021

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Identification of sixteen novel candidate genes for late onset Parkinson's disease.
Alessandro Gialluisi, Mafalda Giovanna Reccia, Nicola Modugno, Teresa Nutile, Alessia Lombardi, Simona Scala

Mol Neurodegener· June 2021

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Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease".
Stefano Gambardella, Rosangela Ferese, Simona Scala, Stefania Carboni, Francesca Biagioni

Parkinsons Dis· September 2018

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Heterozygous Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease.
Rosangela Ferese, Simona Scala, Francesca Biagioni, Emiliano Giardina, Stefania Zampatti

Front Neurol· July 2018

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Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease.
Stefano Gambardella, Rosangela Ferese, Simona Scala, Stefania Carboni, Francesca Biagioni

Parkinsons Dis· June 2018

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Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.
Sara Casciato, Stefano Gambardella, Addolorata Mascia, Pier Paolo Quarato, Alfredo D'Aniello, Simona Scala

Int J Neurosci· December 2017

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Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).
Rosangela Ferese, Veronica Albano, Mattia Falconi, Federico Iacovelli, Rosa Campopiano, Simona Scala

Arch Ital Biol· December 2017

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A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).
Rosangela Ferese, Stefania Zampatti, Anna Maria Pia Griguoli, Francesco Fornai, Emiliano Giardina, Simona Scala

J Mol Neurosci· July 2016

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MeCP2 dependent heterochromatin reorganization during neural differentiation of a novel Mecp2-deficient embryonic stem cell reporter line.
Bianca Bertulat, Maria Luigia De Bonis, Floriana Della Ragione, Anne Lehmkuhl, Manuela Milden, Simona Scala

PLoS One· April 2013

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Single nucleotide polymorphisms of tissue inhibitors of metalloproteinase genes in familial moyamoya disease.
Vincenzo Andreone, Simona Scala, Celeste Tucci, Daniele Di Napoli, Italo Linfante

Neurosurgery· June 2008

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Wide gene expression profiling of ischemia-reperfusion injury in human liver transplantation.
Anna Conti, Simona Scala, Paola D'Agostino, Elena Alimenti, Daniele Morelli

Liver Transpl· January 2007

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No evidence of in vitro and in vivo porcine endogenous retrovirus infection after plasmapheresis through the AMC-bioartificial liver.
Giuseppe Di Nicuolo, Maarten-Paul van de Kerkhove, Ruurdtje Hoekstra, Marcel G H M Beld, Pietro Amoroso, Simona Scala

Xenotransplantation· July 2005

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Bridging a patient with acute liver failure to liver transplantation by the AMC-bioartificial liver.
Maarten-Paul van de Kerkhove, Ernesto Di Florio, Vincenzo Scuderi, Antonio Mancini, Antonello Belli, Daniela Scala, Simona Scala

Cell Transplant· April 2004

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Bridging a Patient with Acute Liver Failure to Liver Transplantation by the AMC-Bioartificial Liver.
Maarten-Paul Van De Kerkhove, Ernesto Di Florio, Vincenzo Scuderi, Antonio Mancini, Antonello Belli, Daniela Scala, Simona Scala

Cell Transplant· September 2003

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Genome properties of the diatom Phaeodactylum tricornutum.
Simona Scala, Nicolas Carels, Angela Falciatore, Maria Luisa Chiusano, Chris Bowler

Plant Physiol· July 2002

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