Publications by authors named "Amelia Conte"

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Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.
Paolo Niccolò Doronzio, Serena Lattante, Daniela Bernardo, Agata Katia Patanella, Giulia Bisogni, Amelia Conte

J Neurol· June 2025

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Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA Dataset.
Spencer B Huggett, Andrew T N Tebbenkamp, Carlo Rinaldi, Dipa Jayaseelan, Luca Zampedri, Amelia Conte

Neurology· December 2024

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Exploring the Role of Variants in Italian ALS Patients.
Giulia Bisogni, Amelia Conte, Umberto Costantino, Serena Lattante, Daniela Bernardo

Genes (Basel)· December 2024

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Colchicine treatment in amyotrophic lateral sclerosis: safety, biological and clinical effects in a randomized clinical trial.
Giulia Gianferrari, Riccardo Cuoghi Costantini, Valeria Crippa, Serena Carra, Valentina Bonetto, Amelia Conte

Brain Commun· September 2024

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Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients.
Mario Sabatelli, Federica Cerri, Riccardo Zuccarino, Agata Katia Patanella, Daniela Bernardo, Amelia Conte

J Neurol· August 2024

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Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene.
Marika Guerra, Lucia Meola, Serena Lattante, Amelia Conte, Mario Sabatelli

Cells· August 2023

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Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.
Serena Lattante, Mario Sabatelli, Giulia Bisogni, Giuseppe Marangi, Paolo Niccolò Doronzio, Amelia Conte

Eur J Neurol· May 2023

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Oral anticoagulants in fragile patients with percutaneous endoscopic gastrostomy and atrial fibrillation: the ORIGAMI pilot investigation.
Domenico D'Amario, Mattia Galli, Luigi Cappannoli, Francesco Canonico, Attilio Restivo, Amelia Conte

Minerva Cardiol Angiol· February 2023

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Analysis of CA repeats in italian ALS patients shows no association.
Paolo Niccolò Doronzio, Serena Lattante, Giuseppe Marangi, Francesco Martello, Amelia Conte

Amyotroph Lateral Scler Frontotemporal Degener· February 2023

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Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double-blind, placebo-controlled trial.
Ettore Beghi, Elisabetta Pupillo, Elisa Bianchi, Valentina Bonetto, Silvia Luotti, Amelia Conte

Eur J Neurol· January 2023

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Sensory-motor not length-dependent multineuropathy followed by the syringomyelia-like phenotype: a novel presentation of Tangier disease.
Eleonora Sabatelli, Marco Luigetti, Umberto Costantini, Gabriele Lucioli, Amelia Conte

Neurol Sci· December 2022

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Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia.
Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni

Stem Cell Res· July 2022

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Thr124Met myelin protein zero mutation mimicking motor neuron disease.
Giulia Bisogni, Angela Romano, Amelia Conte, Giorgio Tasca, Daniela Bernardo

Amyotroph Lateral Scler Frontotemporal Degener· May 2022

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Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients.
Elisa Perciballi, Federica Bovio, Jessica Rosati, Federica Arrigoni, Angela D'Anzi, Amelia Conte

Antioxidants (Basel)· 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, Amelia Conte

JAMA Neurol· October 2021

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Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant.
Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni

Stem Cell Res· August 2021

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Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte, Giuseppe Marangi, Francesco Martello

Hum Mol Genet· March 2021

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Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study.
Paride Schito, Giulia Ceccardi, Andrea Calvo, Yuri Matteo Falzone, Cristina Moglia, Amelia Conte

J Neurol Neurosurg Psychiatry· September 2020

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High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Serena Lattante, Giuseppe Marangi, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni

Genes (Basel)· September 2020

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Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center Experience.
Marco Luigetti, Angela Romano, Andrea Di Paolantonio, Giulia Bisogni, Salvatore Rossi, Amelia Conte

Brain Sci· June 2020

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Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center.
Marco Luigetti, Andrea Di Paolantonio, Giulia Bisogni, Angela Romano, Amelia Conte

Neurol Sci· February 2020

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Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS.
Serena Lattante, Paolo Niccolò Doronzio, Giuseppe Marangi, Amelia Conte, Giulia Bisogni

Neurobiol Aging· December 2019

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Comparative Analysis of and Sporadic Disease in a Large Multicenter ALS Population: The Effect of Male Sex on Survival of Positive Patients.
Francesca Trojsi, Mattia Siciliano, Cinzia Femiano, Gabriella Santangelo, Christian Lunetta, Amelia Conte

Front Neurosci· May 2019

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ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis.
Serena Lattante, Maria Grazia Pomponi, Amelia Conte, Giuseppe Marangi, Giulia Bisogni

Neurobiol Aging· April 2018

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Comorbidity of dementia with amyotrophic lateral sclerosis (ALS): insights from a large multicenter Italian cohort.
Francesca Trojsi, Mattia Siciliano, Cinzia Femiano, Gabriella Santangelo, Christian Lunetta, Amelia Conte

J Neurol· November 2017

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