Publications by authors named "Marco Barberis"

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Changes in attitudes towards prenatal diagnosis for haemoglobinopathies: a 40-year retrospective observational study in Northern Italy.
Vincenzo Voi, Noemi Giordano, Veronica Sciannameo, Andrea Sciarrone, Luca Sbaiz, Marco Barberis

BMJ Open· December 2025

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Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis.
Adriano Chiò, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Marco Barberis

Neurology· July 2023

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The p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with Mutations.
Antonio Canosa, Andrea Calvo, Gabriele Mora, Cristina Moglia, Maura Brunetti, Marco Barberis

Biomedicines· February 2023

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Exploring the phenotype of Italian patients with ALS with intermediate polyQ repeats.
Adriano Chio, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Marco Barberis

J Neurol Neurosurg Psychiatry· August 2022

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Systematic evaluation of genetic mutations in ALS: a population-based study.
Maurizio Grassano, Andrea Calvo, Cristina Moglia, Luca Sbaiz, Maura Brunetti, Marco Barberis

J Neurol Neurosurg Psychiatry· July 2022

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Evaluation of the Effects of Different Sample Collection Strategies on DNA/RNA Co-Analysis of Forensic Stains.
Daniela Lacerenza, Giorgio Caudullo, Elena Chierto, Serena Aneli, Giancarlo Di Vella, Marco Barberis

Genes (Basel)· May 2022

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GBA variants influence cognitive status in amyotrophic lateral sclerosis.
Antonio Canosa, Maurizio Grassano, Cristina Moglia, Barbara Iazzolino, Laura Peotta, Marco Barberis

J Neurol Neurosurg Psychiatry· April 2022

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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Janel O Johnson, Ruth Chia, Danny E Miller, Rachel Li, Ravindran Kumaran, Marco Barberis

JAMA Neurol· October 2021

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Differential Neuropsychological Profile of Patients With Amyotrophic Lateral Sclerosis With and Without Mutation.
Barbara Iazzolino, Laura Peotta, Jean Pierre Zucchetti, Antonio Canosa, Umberto Manera, Marco Barberis

Neurology· January 2021

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Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.
Maurizio Grassano, Andrea Calvo, Cristina Moglia, Maura Brunetti, Marco Barberis

Neurology· January 2021

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A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation.
Antonio Canosa, Maurizio Grassano, Marco Barberis, Maura Brunetti, Umberto Manera

J Clin Neurosci· May 2020

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ALS phenotype is influenced by age, sex, and genetics: A population-based study.
Adriano Chiò, Cristina Moglia, Antonio Canosa, Umberto Manera, Fabrizio D'Ovidio, Marco Barberis

Neurology· February 2020

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Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort.
Lucia Corrado, Maura Brunetti, Alice Di Pierro, Marco Barberis, Roberta Croce

Neurol Sci· December 2019

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Cognitive impairment across ALS clinical stages in a population-based cohort.
Adriano Chiò, Cristina Moglia, Antonio Canosa, Umberto Manera, Rosario Vasta, Marco Barberis

Neurology· September 2019

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Parkinsonian traits in amyotrophic lateral sclerosis (ALS): a prospective population-based study.
Andrea Calvo, Adriano Chiò, Marco Pagani, Stefania Cammarosano, Francesca Dematteis, Marco Barberis

J Neurol· July 2019

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A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms.
Antonio Canosa, Giovanni De Marco, Annarosa Lomartire, Maria Teresa Rinaudo, Ferdinando Di Cunto, Marco Barberis

Neurobiol Aging· December 2018

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The multistep hypothesis of ALS revisited: The role of genetic mutations.
Adriano Chiò, Letizia Mazzini, Sandra D'Alfonso, Lucia Corrado, Antonio Canosa, Marco Barberis

Neurology· August 2018

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Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population-based study.
Andrea Calvo, Cristina Moglia, Antonio Canosa, Stefania Cammarosano, Antonio Ilardi, Marco Barberis

Muscle Nerve· February 2018

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Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.
Simona Capponi, Thomas Geuens, Alessandro Geroldi, Paola Origone, Simonetta Verdiani, Marco Barberis

Hum Mutat· November 2016

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TBK1 is associated with ALS and ALS-FTD in Sardinian patients.
Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Marco Barberis

Neurobiol Aging· July 2016

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Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Rosemary Ekong, Mark Nellist, Marianne Hoogeveen-Westerveld, Marjolein Wentink, Jessica Panzer, Marco Barberis

Hum Mutat· April 2016

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The Role of APOE in the Occurrence of Frontotemporal Dementia in Amyotrophic Lateral Sclerosis.
Adriano Chiò, Maura Brunetti, Marco Barberis, Barbara Iazzolino, Anna Montuschi

JAMA Neurol· April 2016

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ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.
Adriano Chiò, Gabriele Mora, Mario Sabatelli, Claudia Caponnetto, Christian Lunetta, Marco Barberis

Neurobiol Aging· March 2016

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HFE p.H63D polymorphism does not influence ALS phenotype and survival.
Adriano Chiò, Gabriele Mora, Mario Sabatelli, Claudia Caponnetto, Christian Lunetta, Marco Barberis

Neurobiol Aging· October 2015

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ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.
Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Marco Barberis

Neurobiol Aging· October 2015

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