Works by Pennisi, Elena

Results: 20

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.

Published in:

2018

By:

Garibaldi, Matteo;
Fattori, Fabiana;
Bortolotti, Carlo Augusto;
Brochier, Guy;
Labasse, Clemence;
Verardo, Margherita;
Servian-Morilla, Emilia;
Gibellini, Lara;
Pinti, Marcello;
Di Rocco, Giulia;
Raffa, Salvatore;
Pennisi, Elena Maria;
Bertini, Enrico Silvio;
Paradas, Carmen;
Romero, Norma Beatriz;
Antonini, Giovanni

Publication type:

Letter

Clear Cells Detection in Nodular Thyroid Disease Is Not Always Indicative of Neoplasia: Description of the First Case of Thyroid Involvement in Multisystem Triglyceride Storage Disease.

Published in:

Thyroid, 2008, v. 18, n. 9, p. 1001, doi. 10.1089/thy.2007.0228

By:

Elena Benelli;
Emilio Fiore;
Elisa Giustarini;
Roberta Romani;
Elena Pennisi;
Aldo Pinchera;
Claudio Giani

Publication type:

Article

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

Published in:

2017

By:

Pennisi, Elena Maria;
Arca, Marcello;
Bertini, Enrico;
Bruno, Claudio;
Cassandrini, Denise;
D'amico, Adele;
Garibaldi, Matteo;
Gragnani, Francesca;
Maggi, Lorenzo;
Massa, Roberto;
Missaglia, Sara;
Morandi, Lucia;
Musumeci, Olimpia;
Pegoraro, Elena;
Rastelli, Emanuele;
Santorelli, Filippo Maria;
Tasca, Elisabetta;
Tavian, Daniela;
Toscano, Antonio;
Angelini, Corrado

Publication type:

journal article

Exploring triheptanoin as treatment for neutral lipid storage disease with myopathy.

Published in:

European Journal of Translational Myology, 2023, v. 33, n. 2, p. 41, doi. 10.4081/ejtm.2023.11427

By:

Missaglia, Sara;
Tavian, Daniela;
Noguera, Nelida Inés;
Angelini, Corrado;
Cortese, Francesca;
Filosto, Massimiliano;
Garibaldi, Matteo;
Smigliani, Ariela;
Zaza, Alessandra;
Pennisi, Elena Maria

Publication type:

Article

A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene.

Published in:

Journal of the Peripheral Nervous System, 2019, v. 24, n. 2, p. 219, doi. 10.1111/jns.12314

By:

Tozza, Stefano;
Pisciotta, Chiara;
Severi, Daniele;
Santoro, Lucio;
Manganelli, Fiore;
Magri, Stefania;
Balistreri, Francesca;
Taroni, Franco;
Pennisi, Elena Maria;
Schirinzi, Erika;
Ricci, Giulia;
Siciliano, Gabriele

Publication type:

Article

Muscle MRI in neutral lipid storage disease (NLSD).

Published in:

Journal of Neurology, 2017, v. 264, n. 7, p. 1334, doi. 10.1007/s00415-017-8498-8

By:

Garibaldi, Matteo;
Tasca, Giorgio;
Diaz-Manera, Jordi;
Ottaviani, Pierfancesco;
Laschena, Francesco;
Pantoli, Donatella;
Gerevini, Simonetta;
Fiorillo, Chiara;
Maggi, Lorenzo;
Tasca, Elisabetta;
D'amico, Adele;
Musumeci, Olimpia;
Toscano, Antonio;
Bruno, Claudio;
Massa, Roberto;
Angelini, Corrado;
Bertini, Enrico;
Antonini, Giovanni;
Pennisi, Elena

Publication type:

Article

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).

Published in:

2017

By:

Garibaldi, Matteo;
Tasca, Giorgio;
Diaz-Manera, Jordi;
Ottaviani, Pierfancesco;
Laschena, Francesco;
Pantoli, Donatella;
Gerevini, Simonetta;
Fiorillo, Chiara;
Maggi, Lorenzo;
Tasca, Elisabetta;
D'amico, Adele;
Musumeci, Olimpia;
Toscano, Antonio;
Bruno, Claudio;
Massa, Roberto;
Angelini, Corrado;
Bertini, Enrico;
Antonini, Giovanni;
Pennisi, Elena

Publication type:

Erratum

Trigeminal isolated sensory neuropathy (TISN) and FOSMN syndrome. Despite a dissimilar disease course do they share common pathophysiological mechanisms?

Published in:

BMC Neurology, 2014, v. 14, n. 1, p. 257, doi. 10.1186/s12883-014-0248-2

By:

Cruccu, Giorgio;
Pennisi, Elena M.;
Antonini, Giovanni;
Biasiotta, Antonella;
di Stefano, Giulia;
La Cesa, Silvia;
Leone, Caterina;
Raffa, Salvatore;
Sommer, Claudia;
Truini, Andrea

Publication type:

Article

Atypical motor neuron disease with bent spine clinical onset and long survival carrying C9orf72 expansion.

Published in:

2021

By:

Santarelli, Marialaura;
De Giglio, Laura;
Altavista, Maria C.;
Chiò, Adriano;
Pennisi, Elena M.

Publication type:

Letter

Post-COVID simultaneous onset of Graves' disease and ocular myasthenia gravis in a patient with a complex ocular motility impairment.

Published in:

European Journal of Ophthalmology, 2023, v. 33, n. 3, p. NP49, doi. 10.1177/11206721221077800

By:

De Giglio, Laura;
Sadun, Federico;
Roberti, Cinzia;
Polidori, Luigi;
Gilardi, Marta;
Altavista, Maria Concetta;
Pennisi, Elena Maria

Publication type:

Article

Metabolic lipid muscle disorders: biomarkers and treatment.

Published in:

Therapeutic Advances in Neurological Disorders, 2019, p. N.PAG, doi. 10.1177/1756286419843359

By:

Angelini, Corrado;
Pennisi, Elena;
Missaglia, Sara;
Tavian, Daniela

Publication type:

Article

A myopathy with unusual features caused by PNPLA2 gene mutations.

Published in:

Muscle & Nerve, 2015, v. 51, n. 4, p. 609, doi. 10.1002/mus.24477

By:

Pennisi, Elena M.;
Missaglia, Sara;
Dimauro, Salvatore;
Bernardi, Cinzia;
Akman, Hasan Orhan;
Tavian, Daniela

Publication type:

Article

Lipid Myopathies.

Published in:

Journal of Clinical Medicine, 2018, v. 7, n. 12, p. 472, doi. 10.3390/jcm7120472

By:

Pennisi, Elena Maria;
Garibaldi, Matteo;
Antonini, Giovanni

Publication type:

Article

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5318, doi. 10.1093/hmg/dds388

By:

Tavian, Daniela;
Missaglia, Sara;
Redaelli, Chiara;
Pennisi, Elena M.;
Invernici, Gloria;
Wessalowski, Ruediger;
Maiwald, Robert;
Arca, Marcello;
Coleman, Rosalind A.

Publication type:

Article

ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country.

Published in:

Genes, 2021, v. 13, n. 6, p. 829, doi. 10.3390/genes12060829

By:

Luigetti, Marco;
Guglielmino, Valeria;
Antonini, Giovanni;
Casali, Carlo;
Ceccanti, Marco;
Chiappini, Maria Grazia;
De Giglio, Laura;
Di Lazzaro, Vincenzo;
Di Muzio, Antonio;
Goglia, Mariangela;
Inghilleri, Maurizio;
Leonardi, Luca;
Massa, Roberto;
Pennisi, Elena Maria;
Petrucci, Antonio;
Proietti, Emanuela;
Rispoli, Marianna;
Sabatelli, Mario;
Di Girolamo, Marco

Publication type:

Article

Real‐life experience with inotersen in hereditary transthyretin amyloidosis with late‐onset phenotype: Data from an early‐access program in Italy.

Published in:

European Journal of Neurology, 2022, v. 29, n. 7, p. 2148, doi. 10.1111/ene.15325

By:

Luigetti, Marco;
Antonini, Giovanni;
Di Paolantonio, Andrea;
Gentile, Luca;
Grandis, Marina;
Leonardi, Luca;
Lozza, Alessandro;
Manganelli, Fiore;
Mazzeo, Anna;
Mussinelli, Roberta;
My, Filomena;
Obici, Laura;
Maria Pennisi, Elena;
Romozzi, Marina;
Russo, Massimo;
Sabatelli, Mario;
Salvalaggio, Alessandro;
Tagliapietra, Matteo;
Tozza, Stefano

Publication type:

Article

Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials.

Published in:

European Journal of Neurology, 2022, v. 29, n. 3, p. 843, doi. 10.1111/ene.15174

By:

Garibaldi, Matteo;
Nicoletti, Tommaso;
Bucci, Elisabetta;
Fionda, Laura;
Leonardi, Luca;
Morino, Stefania;
Tufano, Laura;
Alfieri, Girolamo;
Lauletta, Antonio;
Merlonghi, Gioia;
Perna, Alessia;
Rossi, Salvatore;
Ricci, Enzo;
Alonso Perez, Jorge;
Tartaglione, Tommaso;
Petrucci, Antonio;
Pennisi, Elena Maria;
Salvetti, Marco;
Cutter, Gary;
Díaz‐Manera, Jordi

Publication type:

Article

Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy.

Published in:

2013

By:

Natali, Andrea;
Gastaldelli, Amalia;
Camastra, Stefania;
Baldi, Simona;
Quagliarini, Fabiana;
Minicocci, Ilenia;
Bruno, Claudio;
Pennisi, Elena;
Arca, Marcello

Publication type:

Journal Article

An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy.

Published in:

Neuroepidemiology, 2016, v. 46, n. 3, p. 191, doi. 10.1159/000444018

By:

Vanacore, Nicola;
Rastelli, Emanuele;
antonini, Giovanni;
Bianchi, Maria Laura Ester;
Botta, annalisa;
Bucci, Elisabetta;
Casali, Carlo;
Costanzi-Porrini, Sandro;
Giacanelli, Manlio;
Gibellini, Manuela;
Modoni, anna;
Novelli, Giuseppe;
Pennisi, Elena Maria;
Petrucci, antonio;
Piantadosi, Carlo;
Silvestri, Gabriella;
Terracciano, Chiara;
Massa, Roberto

Publication type:

Article

Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients.

Published in:

Biomolecules (2218-273X), 2023, v. 13, n. 3, p. 452, doi. 10.3390/biom13030452

By:

Noguera, Nelida Inés;
Tavian, Daniela;
Angelini, Corrado;
Cortese, Francesca;
Filosto, Massimiliano;
Garibaldi, Matteo;
Missaglia, Sara;
Smigliani, Ariela;
Zaza, Alessandra;
Pennisi, Elena Maria

Publication type:

Article