Publications by authors named "Marina Frontali"

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Leukocyte Telomere Length as Potential Biomarker of HD Progression: A Follow-Up Study.
Daniela Scarabino, Liana Veneziano, Elide Mantuano, Ivan Arisi, Alessia Fiore, Marina Frontali

Int J Mol Sci· November 2022

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Episodic Ataxias: Faux or Real?
Paola Giunti, Elide Mantuano, Marina Frontali

Int J Mol Sci· September 2020

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Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival.
Francesca Tiano, Francesca Amati, Fabio Cherubini, Elena Morini, Chiara Vancheri, Marina Frontali

Hum Mol Genet· February 2020

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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Gloria Negri, Pamela Magini, Donatella Milani, Milena Crippa, Elisa Biamino, Marina Frontali

Hum Genet· March 2019

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Leukocyte telomere shortening in Huntington's disease.
Daniela Scarabino, Liana Veneziano, Martina Peconi, Marina Frontali, Elide Mantuano

J Neurol Sci· January 2019

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Does arterial hypertension influence the onset of Huntington's disease?
Leire Valcárcel-Ocete, Asier Fullaondo, Gorka Alkorta-Aranburu, María García-Barcina, Raymund A C Roos, Marina Frontali

PLoS One· November 2018

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Corrigendum to "Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia" [Clin. Neurol. Neurosurg. 168 (May) (2018) 60-63].
Giulia Coarelli, Silvia Romano, Lorena Travaglini, Michela Ferraldeschi, Francesco Nicita, Marina Frontali

Clin Neurol Neurosurg· September 2018

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Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.
Giulia Coarelli, Silvia Romano, Lorena Travaglini, Michela Ferraldeschi, Francesco Nicita, Marina Frontali

Clin Neurol Neurosurg· May 2018

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Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.
Laura Gigante, Irene Paganini, Marina Frontali, Serena Ciabattoni, Federica Carla Sangiuolo

Fam Cancer· January 2016

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Analyzing the Effects of a G137V Mutation in the FXN Gene.
Nathalie Faggianelli, Rita Puglisi, Liana Veneziano, Silvia Romano, Marina Frontali

Front Mol Neurosci· December 2015

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Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial.
Silvia Romano, Giulia Coarelli, Christian Marcotulli, Luca Leonardi, Francesca Piccolo, Marina Frontali

Lancet Neurol· October 2015

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Movement disorders and brain iron overload in a new subtype of aceruloplasminemia.
Jean-Marc Melgari, Massimo Marano, Carlo Cosimo Quattrocchi, Alberto Piperno, Cristina Arosio, Marina Frontali

Parkinsonism Relat Disord· June 2015

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Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
Maria Rosaria D'Apice, Antonio Novelli, Alessandra di Masi, Michela Biancolella, Antonio Antoccia, Marina Frontali

BMC Med Genet· April 2015

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Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.
Paola Giunti, Elide Mantuano, Marina Frontali, Liana Veneziano

Front Cell Neurosci· March 2015

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Diagnostic genetic testing for Huntington's disease.
David Craufurd, Rhona MacLeod, Marina Frontali, Oliver Quarrell, Emilia K Bijlsma

Pract Neurol· February 2015

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A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
Liana Veneziano, Michael H Parkinson, Elide Mantuano, Marina Frontali, Kailash P Bhatia

Cerebellum· October 2014

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Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trial.
Renata De Maria, Jonica Campolo, Marina Frontali, Franco Taroni, Antonio Federico

Stroke· October 2014

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A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.
Liana Veneziano, Elide Mantuano, Claudio Catalli, Cinzia Gellera, Alexandra Durr, Marina Frontali

J Hum Genet· March 2014

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Is the oxidant/antioxidant status altered in CADASIL patients?
Jonica Campolo, Renata De Maria, Caterina Mariotti, Chiara Tomasello, Marina Parolini, Marina Frontali

PLoS One· January 2014

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Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
Eliana Marisa Ramos, Jeanne C Latourelle, Tammy Gillis, Jayalakshmi S Mysore, Ferdinando Squitieri, Marina Frontali

Neurogenetics· November 2013

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Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.
Eliana Marisa Ramos, Jeanne C Latourelle, Ji-Hyun Lee, Tammy Gillis, Jayalakshmi S Mysore, Marina Frontali

Hum Genet· December 2012

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TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.
Ji-Hyun Lee, Jong-Min Lee, Eliana Marisa Ramos, Tammy Gillis, Jayalakshmi S Mysore, Marina Frontali

Biochem Biophys Res Commun· August 2012

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Impaired vasoreactivity in mildly disabled CADASIL patients.
Jonica Campolo, Renata De Maria, Marina Frontali, Franco Taroni, Domenico Inzitari

J Neurol Neurosurg Psychiatry· March 2012

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Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
Jong-Min Lee, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Eliana Marisa Ramos, Richard H Myers, Marina Frontali

Am J Hum Genet· March 2012

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Fractal analysis reveals reduced complexity of retinal vessels in CADASIL.
Michele Cavallari, Teresa Falco, Marina Frontali, Silvia Romano, Francesca Bagnato

PLoS One· April 2011

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