Arianna Manini

Milan, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 34 publications

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.

Journal: medRxiv : the preprint server for health sciences

Published: November 24, 2025

Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes.

Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes.

Journal: Journal of neurology

Published: July 25, 2025

Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients.

Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients.

Journal: Journal of neurology

Published: February 13, 2025

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis.

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis.

Journal: Annals of clinical and translational neurology

Published: December 09, 2024

Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.

Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.

Journal: Brain communications

Published: January 22, 2024

Association of APOE genotype and cerebrospinal fluid Aβ and tau biomarkers with cognitive and motor phenotype in amyotrophic lateral sclerosis.

Association of APOE genotype and cerebrospinal fluid Aβ and tau biomarkers with cognitive and motor phenotype in amyotrophic lateral sclerosis.

Journal: European journal of neurology

Published: January 14, 2024

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

Journal: Brain : a journal of neurology

Published: October 06, 2023

Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.

Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.

Journal: Biomolecules

Published: August 14, 2023

Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.

Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 11, 2023

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

Phenotypic correlates of serum neurofilament light chain levels in amyotrophic lateral sclerosis.

Phenotypic correlates of serum neurofilament light chain levels in amyotrophic lateral sclerosis.

Journal: Frontiers in aging neuroscience

Published: December 27, 2022

Association of the risk factor UNC13A with survival and upper motor neuron involvement in amyotrophic lateral sclerosis.

Association of the risk factor UNC13A with survival and upper motor neuron involvement in amyotrophic lateral sclerosis.

Journal: Frontiers in aging neuroscience

Published: October 12, 2022

Showing 1-12 of 34

Last Updated: 09/26/2026