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ArticlesPeer ReviewedFull Text
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients
Author / Creator:Perciballi, Elisa ; Bovio, Federica ; Rosati, Jessica ; Arrigoni, Federica ; D’Anzi, Angela ; Lattante, Serena ; Gelati, Maurizio ; De Marchi, Fabiola ; Lombardi, Ivan ; Ruotolo, Giorgia ; Forcella, Matilde ; Mazzini, Letizia ; D’Alfonso, Sandra ; Corrado, Lucia ; Sabatelli, Mario ; Conte, Amelia ; De Gioia, Luca ; Martino, Sabata ; Vescovi, Angelo Luigi ; Fusi, Paola ; Ferrari, Daniela
Publisher:Switzerland: MDPI AG
Journal title:Antioxidants, 2022-04, Vol.11 (5), p.815
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ArticlesPeer ReviewedFull Text
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype
Author / Creator:Marangi, Giuseppe ; Leuzzi, Vincenzo ; Manti, Filippo ; Lattante, Serena ; Orteschi, Daniela ; Pecile, Vanna ; Neri, Giovanni ; Zollino, Marcella
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-02, Vol.21 (2), p.229-232
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ArticlesPeer ReviewedFull Text
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome
Author / Creator:Amenta, Simona ; Frangella, Silvia ; Marangi, Giuseppe ; Lattante, Serena ; Ricciardi, Stefania ; Doronzio, Paolo Niccolò ; Orteschi, Daniela ; Veredice, Chiara ; Contaldo, Ilaria ; Zampino, Giuseppe ; Gentile, Mattia ; Scarano, Emanuela ; Graziano, Claudio ; Zollino, Marcella
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-02, Vol.59 (2), p.189-195
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ArticlesPeer ReviewedFull Text
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines
Author / Creator:Lattante, Serena ; Marangi, Giuseppe ; Doronzio, Paolo Niccolò ; Conte, Amelia ; Bisogni, Giulia ; Zollino, Marcella ; Sabatelli, Mario
Publisher:Basel: MDPI AG
Journal title:Genes, 2020-10, Vol.11 (10), p.1123
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ArticlesPeer ReviewedFull Text
Exploring the Role of CCNF Variants in Italian ALS Patients
Author / Creator:Bisogni, Giulia ; Conte, Amelia ; Costantino, Umberto ; Lattante, Serena ; Bernardo, Daniela ; Lucioli, Gabriele ; Patanella, Agata Katia ; Cimbolli, Paola ; Del Giudice, Elda ; Vettor, Federica ; Marangi, Giuseppe ; Doronzio, Paolo Niccolò ; Zollino, Marcella ; Sabatelli, Mario
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-12, Vol.15 (12), p.1566
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ArticlesPeer ReviewedFull Text
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients
Author / Creator:Zollino, Marcella ; Marangi, Giuseppe ; Ponzi, Emanuela ; Orteschi, Daniela ; Ricciardi, Stefania ; Lattante, Serena ; Murdolo, Marina ; Battaglia, Domenica ; Contaldo, Ilaria ; Mercuri, Eugenio ; Stefanini, Maria Chiara ; Caumes, Roseline ; Edery, Patrick ; Rossi, Massimiliano ; Piccione, Maria ; Corsello, Giovanni ; Della Monica, Matteo ; Scarano, Francesca ; Priolo, Manuela ; Gentile, Mattia ; Zampino, Giuseppe ; Vijzelaar, Raymon ; Abdulrahman, Omar ; Rauch, Anita ; Oneda, Beatrice ; Deardorff, Matthew A ; Saitta, Sulagna C ; Falk, Marni J ; Dubbs, Holly ; Zackai, Elaine
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-12, Vol.52 (12), p.804-814
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ArticlesPeer ReviewedFull Text
M 6 A reduction relieves FUS-associated ALS granules
Author / Creator:Di Timoteo, Gaia ; Giuliani, Andrea ; Setti, Adriano ; Biagi, Martina C ; Lisi, Michela ; Santini, Tiziana ; Grandioso, Alessia ; Mariani, Davide ; Castagnetti, Francesco ; Perego, Eleonora ; Zappone, Sabrina ; Lattante, Serena ; Sabatelli, Mario ; Rotili, Dante ; Vicidomini, Giuseppe ; Bozzoni, Irene
Publisher:England
Journal title:Nature communications, 2024-06, Vol.15 (1), p.5033
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ArticlesPeer ReviewedFull Text
Mitochondrial and energy metabolism dysfunctions are hallmarks of TDP-43 G376D fibroblasts from members of an Amyotrophic Lateral Sclerosis family
Author / Creator:Perciballi, Elisa ; Bovio, Federica ; Ferro, Sara ; Forcella, Matilde ; Rosati, Jessica ; Carletti, Rose Mary ; D'Anzi, Angela ; Gelati, Maurizio ; La Bella, Vincenzo ; Innocenti, Metello ; Spataro, Rossella ; Pecoraro, Martina ; Lombardi, Ivan ; Vulcano, Edvige ; Ruotolo, Giorgia ; Mercurio, Sara ; Sabatelli, Mario ; Lattante, Serena ; Malm, Tarja ; Ohtonen, Sohvi ; Vescovi, Angelo Luigi ; Fusi, Paola ; Ferrari, Daniela
Publisher:England
Journal title:Cell death & disease, 2025-04, Vol.16 (1), p.272
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ArticlesPeer ReviewedFull Text
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation
Author / Creator:Conte, Amelia ; Lattante, Serena ; Luigetti, Marco ; Del Grande, Alessandra ; Romano, Angela ; Marcaccio, Alessandro ; Marangi, Giuseppe ; Rossini, Paolo Maria ; Neri, Giovanni ; Zollino, Marcella ; Sabatelli, Mario
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2012-12, Vol.83 (12), p.1201-1203
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ArticlesPeer ReviewedFull Text
LETM 1 couples mitochondrial DNA metabolism and nutrient preference
Author / Creator:Durigon, Romina ; Mitchell, Alice L ; Jones, Aleck WE ; Manole, Andreea ; Mennuni, Mara ; Hirst, Elizabeth MA ; Houlden, Henry ; Maragni, Giuseppe ; Lattante, Serena ; Doronzio, Paolo Niccolo’ ; Dalla Rosa, Ilaria ; Zollino, Marcella ; Holt, Ian J ; Spinazzola, Antonella
Journal title:EMBO molecular medicine, 2018-09, Vol.10 (9)
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ArticlesPeer ReviewedFull Text
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
Author / Creator:Johnson, Janel O ; Pioro, Erik P ; Boehringer, Ashley ; Chia, Ruth ; Feit, Howard ; Renton, Alan E ; Pliner, Hannah A ; Abramzon, Yevgeniya ; Marangi, Giuseppe ; Winborn, Brett J ; Gibbs, J Raphael ; Nalls, Michael A ; Morgan, Sarah ; Shoai, Maryam ; Hardy, John ; Pittman, Alan ; Orrell, Richard W ; Malaspina, Andrea ; Sidle, Katie C ; Fratta, Pietro ; Harms, Matthew B ; Baloh, Robert H ; Pestronk, Alan ; Weihl, Conrad C ; Rogaeva, Ekaterina ; Zinman, Lorne ; Drory, Vivian E ; Borghero, Giuseppe ; Mora, Gabriele ; Calvo, Andrea ; Rothstein, Jeffrey D ; Drepper, Carsten ; Sendtner, Michael ; Singleton, Andrew B ; Taylor, J Paul ; Cookson, Mark R ; Restagno, Gabriella ; Sabatelli, Mario ; Bowser, Robert ; Chiò, Adriano ; Traynor, Bryan J
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2014-05, Vol.17 (5), p.664-666
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ReviewsPeer ReviewedFull Text
Genetic counselling in ALS: facts, uncertainties and clinical suggestions
Author / Creator:Chiò, Adriano ; Battistini, Stefania ; Calvo, Andrea ; Caponnetto, Claudia ; Conforti, Francesca L ; Corbo, Massimo ; Giannini, Fabio ; Mandrioli, Jessica ; Mora, Gabriele ; Sabatelli, Mario ; Ajmone, Clara ; Mastro, Enza ; Pain, Debora ; Mandich, Paola ; Penco, Silvana ; Restagno, Gabriella ; Zollino, Marcella ; Surbone, Antonella
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2014, Vol.85 (5), p.478-485
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Showing 21 to 40 of 22 results

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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

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TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

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Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome

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High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines

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Exploring the Role of CCNF Variants in Italian ALS Patients

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Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

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M 6 A reduction relieves FUS-associated ALS granules

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Mitochondrial and energy metabolism dysfunctions are hallmarks of TDP-43 G376D fibroblasts from members of an Amyotrophic Lateral Sclerosis family

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Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

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LETM 1 couples mitochondrial DNA metabolism and nutrient preference

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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

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Genetic counselling in ALS: facts, uncertainties and clinical suggestions

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