Elisa Sarto

Milan, Italy

Last Updated: 09/26/2026

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Found 18 publications

Myoclonic manifestations and skin inclusions as diagnostic clues in ATP13A2-related disorders.

Myoclonic manifestations and skin inclusions as diagnostic clues in ATP13A2-related disorders.

Journal: Parkinsonism & related disorders
Published: February 14, 2025

Self-silencing GFAP missense alleles in familial subclinical Alexander disease: implications for therapy.

Self-silencing GFAP missense alleles in familial subclinical Alexander disease: implications for therapy.

Journal: Journal of neurology, neurosurgery, and psychiatry
Published: January 21, 2025

A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis.

A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis.

Journal: Gene
Published: December 16, 2024

Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.

Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.

Journal: Cell death & disease
Published: February 28, 2024

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.

Journal: Brain : a journal of neurology
Published: March 27, 2023

Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual?

Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual?

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: February 13, 2022

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.

Journal: Frontiers in neurology
Published: October 12, 2021

Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.

Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 04, 2021

Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.

Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: April 07, 2021

Hypomyelinating leukodystrophies in adults: Clinical and genetic features.

Hypomyelinating leukodystrophies in adults: Clinical and genetic features.

Journal: European journal of neurology
Published: July 21, 2020

Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.

Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.

Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
Published: January 10, 2020

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.

Journal: American journal of medical genetics. Part A
Published: April 30, 2019
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Last Updated: 09/26/2026