Publications by authors named "Maria R Murru"

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Evaluation of the Metabolomics Profile in Charcot-Marie-Tooth (CMT) Patients: Novel Potential Biomarkers.
Federica Murgia, Martina Cadeddu, Jessica Frau, Giancarlo Coghe, Lorefice Lorena, Maria Rita Murru

Metabolites· August 2025

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Semantic behavioral variant frontotemporal dementia and semantic dementia associated with mutations.
Giuseppe Piga, Laura Fadda, Giuseppe Borghero, Alessandra Maccabeo, Francesca Pala, Maria Rita Murru

Amyotroph Lateral Scler Frontotemporal Degener· May 2025

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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, Maria Rita Murru

Biomedicines· February 2023

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Geographic differences in the incidence of Huntington's disease in Sardinia, Italy.
Antonella Muroni, Maria R Murru, Lucia Ulgheri, Margherita Sechi, Tommaso Ercoli

Neurol Sci· December 2021

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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, Maria R Murru

JAMA Neurol· October 2021

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Prevalence of Huntington's disease in Southern Sardinia, Italy.
Antonella Muroni, Maria Rita Murru, Margherita Sechi, Tommaso Ercoli, Francesco Marrosu

Parkinsonism Relat Disord· November 2020

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Assessing the Metabolomic Profile of Multiple Sclerosis Patients Treated with Interferon Beta 1a by H-NMR Spectroscopy.
Lorena Lorefice, Federica Murgia, Giuseppe Fenu, Jessica Frau, Giancarlo Coghe, Maria Rita Murru

Neurotherapeutics· July 2019

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Cardiac Abnormalities in Alzheimer Disease: Clinical Relevance Beyond Pathophysiological Rationale and Instrumental Findings?
Giuseppe D Sanna, Giuseppe Nusdeo, Maria Rita Piras, Antonietta Forteleoni, Maria Rita Murru

JACC Heart Fail· February 2019

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Progressive apraxia of speech in a patient with a C9orf72 mutation.
Francesca Di Stefano, Monica Melis, Antonino Cannas, Giuseppe Borghero, Maria R Murru

Amyotroph Lateral Scler Frontotemporal Degener· May 2018

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Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
Lorena Lorefice, Maria Rita Murru, Giancarlo Coghe, Giuseppe Fenu, Daniela Corongiu

Neurol Sci· June 2017

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Erratum to: Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
Lorena Lorefice, Maria Rita Murru, Giancarlo Coghe, Giuseppe Fenu, Daniela Corongiu

Neurol Sci· June 2017

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Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.
Gianluca Floris, Giuseppe Borghero, Francesca Di Stefano, Rosanna Melis, Roberta Puddu, Maria R Murru

Amyotroph Lateral Scler Frontotemporal Degener· January 2017

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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

Neurobiol Aging· July 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, Maria Rita Murru

Neurobiol Aging· March 2016

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(1)H-NMR analysis provides a metabolomic profile of patients with multiple sclerosis.
Eleonora Cocco, Federica Murgia, Lorena Lorefice, Luigi Barberini, Simone Poddighe, Maria Rita Murru, Raffaele Murru

Neurol Neuroimmunol Neuroinflamm· February 2016

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C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.
Antonino Cannas, Paolo Solla, Giuseppe Borghero, Gian Luca Floris, Adriano Chio, Maria Rita Murru

J Neurol· November 2015

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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, Maria Rita Murru

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

Neurobiol Aging· October 2015

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CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.
Adriano Chiò, Gabriele Mora, Mario Sabatelli, Claudia Caponnetto, Bryan J Traynor, Maria Rita Murru

Neurobiol Aging· April 2015

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Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype.
Gianluca Floris, Giuseppe Borghero, Antonino Cannas, Francesca Di Stefano, Elisa Ruiu, Maria R Murru

Amyotroph Lateral Scler Frontotemporal Degener· March 2015

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Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations.
Gianluca Floris, Giuseppe Borghero, Antonino Cannas, Francesca Di Stefano, Maria R Murru

J Neurol· February 2015

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Role of interferon-beta in Mycobacterium avium subspecies paratuberculosis antibody response in Sardinian MS patients.
Jessica Frau, Davide Cossu, Giancarlo Coghe, Lorena Lorefice, Giuseppe Fenu, Maria Rita Murru

J Neurol Sci· February 2015

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Genetic architecture of ALS in Sardinia.
Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru

Neurobiol Aging· December 2014

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C9ORF72 repeat expansion and bipolar disorder - is there a link? No mutation detected in a Sardinian cohort of patients with bipolar disorder.
Gianluca Floris, Francesca Di Stefano, Claudia Pisanu, Caterina Chillotti, Maria Rita Murru

Bipolar Disord· September 2014

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The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.
Antonino Cannas, Giuseppe Borghero, Gian Luca Floris, Paolo Solla, Adriano Chiò, Maria Rita Murru

Neurogenetics· May 2013

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