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p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
Published in:
Neurological Sciences, 2021, v. 42, n. 12, p. 5359, doi. 10.1007/s10072-021-05537-z
By:
- Rigamonti, Andrea;
- Mantero, Vittorio;
- Peverelli, Lorenzo;
- Pagliarani, Serena;
- Lucchiari, Sabrina;
- Comi, Giacomo;
- Gibertini, Sara;
- Salmaggi, Andrea
Publication type:
Article
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).
Published in:
2019
By:
- Catania, Alessia;
- Peverelli, Lorenzo;
- Tabano, Silvia;
- Ghezzi, Daniele;
- Lamperti, Costanza
Publication type:
Case Study
Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease.
Published in:
Neurological Sciences, 2011, v. 32, n. 4, p. 719, doi. 10.1007/s10072-011-0610-8
By:
- Santoro, Domenico;
- Colombo, Irene;
- Ghione, Isabella;
- Peverelli, Lorenzo;
- Bresolin, Nereo;
- Sciacco, Monica;
- Prelle, Alessandro
Publication type:
Article
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature.
Published in:
Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00038
By:
- Gagliardi, Delia;
- Mauri, Eleonora;
- Magri, Francesca;
- Velardo, Daniele;
- Meneri, Megi;
- Abati, Elena;
- Brusa, Roberta;
- Faravelli, Irene;
- Piga, Daniela;
- Ronchi, Dario;
- Triulzi, Fabio;
- Peverelli, Lorenzo;
- Sciacco, Monica;
- Bresolin, Nereo;
- Comi, Giacomo Pietro;
- Corti, Stefania;
- Govoni, Alessandra
Publication type:
Article
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1320
By:
- Telese, Roberta;
- Pagliarani, Serena;
- Lerario, Alberto;
- Ciscato, Patrizia;
- Fagiolari, Gigliola;
- Cassandrini, Denise;
- Grimoldi, Nadia;
- Conte, Giorgio;
- Cinnante, Claudia;
- Santorelli, Filippo M.;
- Comi, Giacomo P.;
- Sciacco, Monica;
- Peverelli, Lorenzo
Publication type:
Article
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 827, doi. 10.1002/ajmg.a.61092
By:
- Catania, Alessia;
- Legati, Andrea;
- Peverelli, Lorenzo;
- Nanetti, Lorenzo;
- Marchet, Silvia;
- Zanetti, Nadia;
- Lamperti, Costanza;
- Ghezzi, Daniele
Publication type:
Article
Value of structured reporting in neuromuscular disorders.
Published in:
La Radiologia Medica, 2019, v. 124, n. 7, p. 628, doi. 10.1007/s11547-019-01012-0
By:
- Alessandrino, Francesco;
- Cristiano, Lara;
- Cinnante, Claudia Maria;
- Tartaglione, Tommaso;
- Gerevini, Simonetta;
- Verdolotti, Tommaso;
- Colafati, Giovanna Stefania;
- Ghione, Emanuele;
- Vitale, Raimondo;
- Peverelli, Lorenzo;
- Brogna, Claudia;
- Berardinelli, Angela;
- Moggio, Maurizio;
- Mercuri, Eugenio M.;
- Pichiecchio, Anna
Publication type:
Article
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
Published in:
Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.657317
By:
- Peverelli, Lorenzo;
- Catania, Alessia;
- Marchet, Silvia;
- Ciasca, Paola;
- Cammarata, Gabriella;
- Melzi, Lisa;
- Bellino, Antonella;
- Fancellu, Roberto;
- Lamantea, Eleonora;
- Capristo, Mariantonietta;
- Caporali, Leonardo;
- La Morgia, Chiara;
- Carelli, Valerio;
- Ghezzi, Daniele;
- Bianchi Marzoli, Stefania;
- Lamperti, Costanza
Publication type:
Article
New missense variants of NDUFA11 associated with late-onset myopathy.
Published in:
2019
By:
- Peverelli, Lorenzo;
- Legati, Andrea;
- Lamantea, Eleonora;
- Nasca, Alessia;
- Lerario, Alberto;
- Galimberti, Valentina;
- Ghezzi, Daniele;
- Lamperti, Costanza
Publication type:
journal article
Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.
Published in:
Muscle & Nerve, 2014, v. 50, n. 2, p. 292, doi. 10.1002/mus.24262
By:
- Peverelli, Lorenzo;
- Gold, Carl A.;
- Naini, Ali B.;
- Tanji, Kurenai;
- Akman, H. Orhan;
- Hirano, Michio;
- Dimauro, Salvatore
Publication type:
Article
Deep Intronic GBE1 Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease.
Published in:
JAMA Neurology, 2015, v. 72, n. 4, p. 441, doi. 10.1001/jamaneurol.2014.4496
By:
- Akman, H. Orhan;
- Kakhlon, Or;
- Coku, Jorida;
- Peverelli, Lorenzo;
- Rosenmann, Hanna;
- Rozenstein-Tsalkovich, Lea;
- Turnbull, Julie;
- Meiner, Vardiella;
- Chama, Liat;
- Lerer, Israela;
- Shpitzen, Shoshi;
- Leitersdorf, Eran;
- Paradas, Carmen;
- Wallace, Mary;
- Schiffmann, Raphael;
- DiMauro, Salvatore;
- Lossos, Alexander;
- Minassian, Berge A.
Publication type:
Article
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
Published in:
Acta Myologica, 2020, v. 39, n. 2, p. 67, doi. 10.36185-2532-1900-009
By:
- Magri, Francesca;
- Brusa, Roberta;
- Bello, Luca;
- Peverelli, Lorenzo;
- Del Bo, Roberto;
- Govoni, Alessandra;
- Cinnante, Claudia;
- Colombo, Irene;
- Fortunato, Francesco;
- Tironi, Roberto;
- Corti, Stefania;
- Grimoldi, Nadia;
- Sciacco, Monica;
- Bresolin, Nereo;
- Pegoraro, Elena;
- Moggio, Maurizio;
- Comi, Giacomo Pietro
Publication type:
Article
Immune-mediated necrotizing myopathy due to statins exposure.
Published in:
Acta Myologica, 2018, v. 37, n. 4, p. 257
By:
- VILLA, LUISA;
- LERARIO, ALBERTO;
- CALLONI, SONIA;
- PEVERELLI, LORENZO;
- MATINATO, CATERINA;
- DE LISO, FEDERICA;
- CERIOTTI, FERRUCCIO;
- TIRONI, ROBERTO;
- SCIACCO, MONICA;
- MOGGIO, MAURIZIO;
- TRIULZI, FABIO;
- CINNANTE, CLAUDIA
Publication type:
Article
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Published in:
Genes, 2023, v. 14, n. 7, p. 1393, doi. 10.3390/genes14071393
By:
- Invernizzi, Federica;
- Izzo, Rossella;
- Colangelo, Isabel;
- Legati, Andrea;
- Zanetti, Nadia;
- Garavaglia, Barbara;
- Lamantea, Eleonora;
- Peverelli, Lorenzo;
- Ardissone, Anna;
- Moroni, Isabella;
- Maggi, Lorenzo;
- Bonanno, Silvia;
- Fiori, Laura;
- Velardo, Daniele;
- Magri, Francesca;
- Comi, Giacomo P.;
- Ronchi, Dario;
- Ghezzi, Daniele;
- Lamperti, Costanza
Publication type:
Article
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
Published in:
Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
By:
- Giugliano, Teresa;
- Savarese, Marco;
- Garofalo, Arcomaria;
- Picillo, Esther;
- Fiorillo, Chiara;
- D'Amico, Adele;
- Maggi, Lorenzo;
- Ruggiero, Lucia;
- Vercelli, Liliana;
- Magri, Francesca;
- Fattori, Fabiana;
- Torella, Annalaura;
- Ergoli, Manuela;
- Rubegni, Anna;
- Fanin, Marina;
- Musumeci, Olimpia;
- Bleecker, Jan De;
- Peverelli, Lorenzo;
- Moggio, Maurizio;
- Mercuri, Eugenio
Publication type:
Article
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
Published in:
Neurogenetics, 2020, v. 21, n. 2, p. 87, doi. 10.1007/s10048-019-00601-5
By:
- Ticci, Chiara;
- Sicca, Federico;
- Ardissone, Anna;
- Bertini, Enrico;
- Carelli, Valerio;
- Diodato, Daria;
- Di Vito, Lidia;
- Filosto, Massimiliano;
- La Morgia, Chiara;
- Lamperti, Costanza;
- Martinelli, Diego;
- Moroni, Isabella;
- Musumeci, Olimpia;
- Orsucci, Daniele;
- Pancheri, Elia;
- Peverelli, Lorenzo;
- Primiano, Guido;
- Rubegni, Anna;
- Servidei, Serenella;
- Siciliano, Gabriele
Publication type:
Article

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