Presynaptic Paraneoplastic Disorders of the Neuromuscular Junction: An Update

by Maria Pia Giannoccaro, Patrizia Avoni, Rocco Liguori
Published 2021-08-01

Pain related channels are differentially expressed in neuronal and non-neuronal cells of glabrous skin of fabry knockout male mice.

by Jarmila Lakomá, Roberto Rimondini, Vincenzo Donadio, Rocco Liguori, Marco Caprini
Published 2014-01-01

Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases

by Matteo Foschi, Veria Vacchiano, Patrizia Avoni, Patrizia Avoni, Alex Incensi, Stella Battaglia, Vincenzo Donadio, Elena Panzeri, Maria Teresa Bassi, Rocco Liguori, Rocco Liguori, Giovanni Rizzo, Giovanni Rizzo
Published 2019-02-01

Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers

by Elisabetta Zucchi, Valentina Bonetto, Gianni Sorarù, Ilaria Martinelli, Piero Parchi, Rocco Liguori, Jessica Mandrioli
Published 2020-10-01

Color Choice Preference in Cognitively Impaired Patients: A Look Inside Alzheimer’s Disease Through the Use of Lüscher Color Diagnostic

by Michelangelo Stanzani Maserati, Micaela Mitolo, Micaela Mitolo, Federica Medici, Renato D’Onofrio, Federico Oppi, Roberto Poda, Maddalena De Matteis, Caterina Tonon, Caterina Tonon, Raffaele Lodi, Raffaele Lodi, Rocco Liguori, Rocco Liguori, Sabina Capellari, Sabina Capellari
Published 2019-08-01

Chromatic Pupillometry Findings in Alzheimer’s Disease

by Martina Romagnoli, Michelangelo Stanzani Maserati, Maddalena De Matteis, Sabina Capellari, Sabina Capellari, Michele Carbonelli, Giulia Amore, Gaetano Cantalupo, Corrado Zenesini, Rocco Liguori, Rocco Liguori, Alfredo A. Sadun, Valerio Carelli, Valerio Carelli, Jason C. Park, Chiara La Morgia, Chiara La Morgia
Published 2020-08-01

A case report of IgG4-related disease: an insidious path to the diagnosis through kidney, heart and brain

by Giorgia Comai, Vania Cuna, Benedetta Fabbrizio, Elena Sabattini, Ornella Leone, Francesco Tondolo, Andrea Angeletti, Maria Cappuccilli, Rocco Liguori, Gaetano La Manna
Published 2019-11-01

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

by Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo, Alessandra Maresca, Andrea Angius, Andrea Angius, Laura Crisponi, Francesco Cucca, Rocco Liguori, Maria Lucia Valentino, Marco Seri, Valerio Carelli
Published 2013-01-01

Biomarkers for REM sleep behavior disorder in idiopathic and narcoleptic patients

by Elena Antelmi, Fabio Pizza, Vincenzo Donadio, Marco Filardi, Yuri L. Sosero, Alex Incensi, Stefano Vandi, Monica Moresco, Raffaele Ferri, Sara Marelli, Luigi Ferini‐Strambi, Rocco Liguori, Giuseppe Plazzi
Published 2019-09-01

Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1

by Stefano Zanigni, Stefania Evangelisti, Maria Pia Giannoccaro, Federico Oppi, Roberto Poda, Antonio Giorgio, Claudia Testa, David Neil Manners, Patrizia Avoni, Laura Ludovica Gramegna, Nicola De Stefano, Raffaele Lodi, Caterina Tonon, Rocco Liguori
Published 2016-01-01

Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.

by Rocco Liguori, Alex Incensi, Silvia de Pasqua, Renzo Mignani, Enrico Fileccia, Marisa Santostefano, Elena Biagini, Claudio Rapezzi, Silvia Palmieri, Ilaria Romani, Walter Borsini, Alessandro Burlina, Roberto Bombardi, Marco Caprini, Patrizia Avoni, Vincenzo Donadio
Published 2017-01-01

Predicting conversion from mild cognitive impairment to Alzheimer's disease using brain 1H-MRS and volumetric changes: A two- year retrospective follow-up study

by Micaela Mitolo, Michelangelo Stanzani-Maserati, Sabina Capellari, Claudia Testa, Paola Rucci, Roberto Poda, Federico Oppi, Roberto Gallassi, Luisa Sambati, Giovanni Rizzo, Piero Parchi, Stefania Evangelisti, Lia Talozzi, Caterina Tonon, Raffaele Lodi, Rocco Liguori
Published 2019-01-01

Diagnostic and Prognostic Value of Conventional Brain MRI in the Clinical Work-Up of Patients with Amyotrophic Lateral Sclerosis

by Giovanni Rizzo, Anna Federica Marliani, Stella Battaglia, Luca Albini Riccioli, Silvia De Pasqua, Veria Vacchiano, Rossella Infante, Patrizia Avoni, Vincenzo Donadio, Massimiliano Passaretti, Ilaria Bartolomei, Fabrizio Salvi, Rocco Liguori, on behalf of the BoReALS group
Published 2020-08-01

Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy

by Laura Licchetta, Lorenzo Ferri, Chiara La Morgia, Corrado Zenesini, Leonardo Caporali, Maria Lucia Valentino, Raffaella Minardi, Daniela Fulitano, Lidia Di Vito, Barbara Mostacci, Lara Alvisi, Patrizia Avoni, Rocco Liguori, Paolo Tinuper, Francesca Bisulli, Valerio Carelli
Published 2021-03-01

Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations

by Laura L. Gramegna, Stefania Evangelisti, Lidia Di Vito, Chiara La Morgia, Alessandra Maresca, Leonardo Caporali, Giulia Amore, Lia Talozzi, Claudio Bianchini, Claudia Testa, David N. Manners, Irene Cortesi, Maria L. Valentino, Rocco Liguori, Valerio Carelli, Caterina Tonon, Raffaele Lodi
Published 2021-06-01

Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

by Chiara La Morgia, Alessandra Maresca, Giulia Amore, Laura Ludovica Gramegna, Michele Carbonelli, Emanuela Scimonelli, Alberto Danese, Simone Patergnani, Leonardo Caporali, Francesca Tagliavini, Valentina Del Dotto, Mariantonietta Capristo, Federico Sadun, Piero Barboni, Giacomo Savini, Stefania Evangelisti, Claudio Bianchini, Maria Lucia Valentino, Rocco Liguori, Caterina Tonon, Carlotta Giorgi, Paolo Pinton, Raffaele Lodi, Valerio Carelli
Published 2020-06-01

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.

by Leonardo Caporali, Luisa Iommarini, Chiara La Morgia, Anna Olivieri, Alessandro Achilli, Alessandra Maresca, Maria Lucia Valentino, Mariantonietta Capristo, Francesca Tagliavini, Valentina Del Dotto, Claudia Zanna, Rocco Liguori, Piero Barboni, Michele Carbonelli, Veronica Cocetta, Monica Montopoli, Andrea Martinuzzi, Giovanna Cenacchi, Giuseppe De Michele, Francesco Testa, Anna Nesti, Francesca Simonelli, Anna Maria Porcelli, Antonio Torroni, Valerio Carelli
Published 2018-02-01

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.

by Alessandro Achilli, Luisa Iommarini, Anna Olivieri, Maria Pala, Baharak Hooshiar Kashani, Pascal Reynier, Chiara La Morgia, Maria Lucia Valentino, Rocco Liguori, Fabio Pizza, Piero Barboni, Federico Sadun, Anna Maria De Negri, Massimo Zeviani, Helene Dollfus, Antoine Moulignier, Ghislaine Ducos, Christophe Orssaud, Dominique Bonneau, Vincent Procaccio, Beate Leo-Kottler, Sascha Fauser, Bernd Wissinger, Patrizia Amati-Bonneau, Antonio Torroni, Valerio Carelli
Published 2012-01-01

Motor and Sensory Features of Cervical Dystonia Subtypes: Data From the Italian Dystonia Registry

by Francesca Di Biasio, Roberta Marchese, Giovanni Abbruzzese, Ottavia Baldi, Marcello Esposito, Francesco Silvestre, Girolamo Tescione, Alfredo Berardelli, Alfredo Berardelli, Giovanni Fabbrini, Giovanni Fabbrini, Gina Ferrazzano, Roberta Pellicciari, Roberto Eleopra, Grazia Devigili, Francesco Bono, Domenico Santangelo, Laura Bertolasi, Maria Concetta Altavista, Vincenzo Moschella, Paolo Barone, Roberto Erro, Alberto Albanese, Cesa Scaglione, Rocco Liguori, Maria Sofia Cotelli, Giovanni Cossu, Roberto Ceravolo, Mario Coletti Moja, Maurizio Zibetti, Antonio Pisani, Martina Petracca, Martina Petracca, Michele Tinazzi, Luca Maderna, Paolo Girlanda, Luca Magistrelli, Luca Magistrelli, Salvatore Misceo, Marcello Romano, Brigida Minafra, Nicola Modugno, Marco Aguggia, Daniela Cassano, Giovanni Defazio, Laura Avanzino, Laura Avanzino
Published 2020-08-01

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

by Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Mauro, Rita Selvatici, Maria Sofia Falzarano, Noemi Spedicato, Alice Margutti, Paola Rimessi, Fernanda Fortunato, Marina Fabris, Francesca Gualandi, Giacomo Comi, Silvana Tedeschi, Manuela Seia, Chiara Fiorillo, Monica Traverso, Claudio Bruno, Emiliano Giardina, Maria Rosaria Piemontese, Giuseppe Merla, Milena Cau, Monica Marica, Carmela Scuderi, Eugenia Borgione, Alessandra Tessa, Guia Astrea, Filippo Maria Santorelli, Luciano Merlini, Marina Mora, Pia Bernasconi, Sara Gibertini, Valeria Sansone, Tiziana Mongini, Angela Berardinelli, Antonella Pini, Rocco Liguori, Massimiliano Filosto, Sonia Messina, Gianluca Vita, Antonio Toscano, Giuseppe Vita, Marika Pane, Serenella Servidei, Elena Pegoraro, Luca Bello, Lorena Travaglini, Enrico Bertini, Adele D'Amico, Manuela Ergoli, Luisa Politano, Annalaura Torella, Vincenzo Nigro, Eugenio Mercuri, Eugenio Mercuri, Alessandra Ferlini, Alessandra Ferlini
Published 2020-03-01