Simona Scala

Pozzilli, Italy

Last Updated: 09/26/2026

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Found 12 publications

New variants and genotype-phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort.

New variants and genotype-phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort.

Journal: Journal of medical genetics

Published: March 25, 2025

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.

Journal: Frontiers in neurology

Published: September 19, 2023

Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).

Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).

Journal: Clinical genetics

Published: February 11, 2022

Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.

Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.

Journal: Frontiers in genetics

Published: March 17, 2021

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Journal: Molecular neurodegeneration

Published: February 09, 2021

Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease".

Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease".

Journal: Parkinson's disease

Published: August 09, 2018

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease.

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease.

Journal: Frontiers in neurology

Published: April 06, 2018

Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).

Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).

Journal: Archives italiennes de biologie

Published: February 07, 2018

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease.

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease.

Journal: Parkinson's disease

Published: January 23, 2018

PCR-based approach for qualitative molecular analysis of six neurotropic pathogens.

PCR-based approach for qualitative molecular analysis of six neurotropic pathogens.

Journal: Acta virologica

Published: September 01, 2017

Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.

Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.

Journal: The International journal of neuroscience

Published: May 31, 2017

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).

Journal: Journal of molecular neuroscience : MN

Published: February 12, 2016

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Last Updated: 09/26/2026