Publications by authors named "Luca Colantoni"

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The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.
Francesca Torri, Claudia Strafella, Liliana Vercelli, Giulio Gadaleta, Barbara Risi, Luca Colantoni

Clin Genet· August 2025

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Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.
Claudia Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Luca Colantoni

Clin Epigenetics· October 2024

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Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.
Domenica Megalizzi, Giulia Trastulli, Luca Colantoni, Emma Proietti Piorgo, Guido Primiano

Int J Mol Sci· October 2024

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Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
Claudia Strafella, Luca Colantoni, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo

Clin Genet· March 2024

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Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level.
Domenica Megalizzi, Giulia Trastulli, Valerio Caputo, Luca Colantoni, Carlo Caltagirone

Electrophoresis· October 2023

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Whole exome sequencing highlights rare variants in , , , and as associated with FSHD.
Claudia Strafella, Valerio Caputo, Sara Bortolani, Eleonora Torchia, Domenica Megalizzi, Luca Colantoni

Front Genet· August 2023

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Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients.
Valerio Caputo, Domenica Megalizzi, Carlo Fabrizio, Andrea Termine, Luca Colantoni

Cells· December 2022

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Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from , and .
Shila Barati, Carlo Fabrizio, Claudia Strafella, Raffaella Cascella, Valerio Caputo, Luca Colantoni

Genes (Basel)· August 2022

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Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD.
Valerio Caputo, Domenica Megalizzi, Carlo Fabrizio, Andrea Termine, Luca Colantoni

Cells· August 2022

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Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants: A study on 4266 samples.
Valerio Caputo, Cristina Bax, Luca Colantoni, Cristina Peconi, Andrea Termine

Int J Infect Dis· July 2021

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The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
Claudia Strafella, Valerio Caputo, Rosaria Maria Galota, Giulia Campoli, Cristina Bax, Luca Colantoni

Hum Mol Genet· December 2019

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Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Stefania Zampatti, Luca Colantoni, Claudia Strafella, Rosaria Maria Galota, Valerio Caputo

Neurogenetics· May 2019

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Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in in a Family With FSHD.
Raffaella Cascella, Claudia Strafella, Valerio Caputo, Rosaria Maria Galota, Valeria Errichiello, Luca Colantoni

Front Neurol· November 2018

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Alzheimer's disease (AD) and Mild Cognitive Impairment (MCI) patients are characterized by increased BDNF serum levels.
Francesco Angelucci, Gianfranco Spalletta, Fulvia di Iulio, Antonio Ciaramella, Francesca Salani, Luca Colantoni

Curr Alzheimer Res· February 2010

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Facioscapulohumeral muscular dystrophy: do neurotrophins play a role?
Francesco Angelucci, Luca Colantoni

Muscle Nerve· January 2010

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The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.
Monica Rossi, Enzo Ricci, Luca Colantoni, Giuliana Galluzzi, Roberto Frusciante

BMC Med Genet· March 2007

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Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes.
Barbara Celegato, Daniele Capitanio, Mario Pescatori, Chiara Romualdi, Beniamina Pacchioni, Luca Colantoni

Proteomics· October 2006

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