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Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Published in:
Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01357-0
By:
- Fusto, Aurora;
- Cassandrini, Denise;
- Fiorillo, Chiara;
- Codemo, Valentina;
- Astrea, Guja;
- D'Amico, Adele;
- Maggi, Lorenzo;
- Magri, Francesca;
- Pane, Marika;
- Tasca, Giorgio;
- Sabbatini, Daniele;
- Bello, Luca;
- Battini, Roberta;
- Bernasconi, Pia;
- Fattori, Fabiana;
- Bertini, Enrico Silvio;
- Comi, Giacomo;
- Messina, Sonia;
- Mongini, Tiziana;
- Moroni, Isabella
Publication type:
Article
Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.
Published in:
Journal of Personalized Medicine, 2023, v. 13, n. 5, p. 798, doi. 10.3390/jpm13050798
By:
- De Rose, Domenico Umberto;
- Ronci, Sara;
- Caoci, Stefano;
- Maddaloni, Chiara;
- Diodato, Daria;
- Catteruccia, Michela;
- Fattori, Fabiana;
- Bosco, Luca;
- Pro, Stefano;
- Savarese, Immacolata;
- Bersani, Iliana;
- Randi, Franco;
- Trozzi, Marilena;
- Meucci, Duino;
- Calzolari, Flaminia;
- Salvatori, Guglielmo;
- Solinas, Agostina;
- Dotta, Andrea;
- Campi, Francesca
Publication type:
Article
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy.
Published in:
Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.565868
By:
- D'Amico, Adele;
- Fattori, Fabiana;
- Nicita, Francesco;
- Barresi, Sabina;
- Tasca, Giorgio;
- Verardo, Margherita;
- Pizzi, Simone;
- Moroni, Isabella;
- De Mitri, Francesca;
- Frongia, Annalia;
- Pane, Marika;
- Mercuri, Eugenio;
- Tartaglia, Marco;
- Bertini, Enrico
Publication type:
Article
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Published in:
2021
By:
- Hathazi, Denisa;
- Cox, Dan;
- D'Amico, Adele;
- Tasca, Giorgio;
- Charlton, Richard;
- Carlier, Robert-Yves;
- Baumann, Jennifer;
- Kollipara, Laxmikanth;
- Zahedi, René P;
- Feldmann, Ingo;
- Deleuze, Jean-Francois;
- Torella, Annalaura;
- Cohn, Ronald;
- Robinson, Emily;
- Ricci, Francesco;
- Jungbluth, Heinz;
- Fattori, Fabiana;
- Boland, Anne;
- O'Connor, Emily;
- Horvath, Rita
Publication type:
journal article
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810274
By:
- Bosco, Luca;
- Leone, Daniela;
- Costa Comellas, Laura;
- Monforte, Mauro;
- Pane, Marika;
- Mercuri, Eugenio;
- Bertini, Enrico;
- D'Amico, Adele;
- Fattori, Fabiana
Publication type:
Article
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
Published in:
Journal of Molecular Neuroscience, 2016, v. 59, n. 3, p. 351, doi. 10.1007/s12031-016-0739-2
By:
- Piga, Daniela;
- Magri, Francesca;
- Ronchi, Dario;
- Corti, Stefania;
- Cassandrini, Denise;
- Mercuri, Eugenio;
- Tasca, Giorgio;
- Bertini, Enrico;
- Fattori, Fabiana;
- Toscano, Antonio;
- Messina, Sonia;
- Moroni, Isabella;
- Mora, Marina;
- Moggio, Maurizio;
- Colombo, Irene;
- Giugliano, Teresa;
- Pane, Marika;
- Fiorillo, Chiara;
- D'Amico, Adele;
- Bruno, Claudio
Publication type:
Article
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Published in:
2018
By:
- Astrea, Guja;
- Romano, Alessandro;
- Angelini, Corrado;
- Antozzi, Carlo Giuseppe;
- Barresi, Rita;
- Battini, Roberta;
- Battisti, Carla;
- Bertini, Enrico;
- Bruno, Claudio;
- Cassandrini, Denise;
- Fanin, Marina;
- Fattori, Fabiana;
- Fiorillo, Chiara;
- Guerrini, Renzo;
- Maggi, Lorenzo;
- Mercuri, Eugenio;
- Morani, Federica;
- Mora, Marina;
- Moro, Francesca;
- Pezzini, Ilaria
Publication type:
journal article
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Published in:
2018
By:
- Dabaj, Ivana;
- Carlier, Robert Y.;
- Gómez‐Andrés, David;
- Neto, Osório Abath;
- Bertini, Enrico;
- D'amico, Adele;
- Fattori, Fabiana;
- PéRéon, Yann;
- Castiglioni, Claudia;
- Rodillo, Eliana;
- Catteruccia, Michela;
- Guimarães, júlio Brandão;
- Oliveira, Acary Souza Bulle;
- Reed, Umbertina Conti;
- Mesrob, Lilia;
- Lechner, Doris;
- Boland, Anne;
- Deleuze, Jean‐François;
- Malfatti, Edoardo;
- Bonnemann, Carsten
Publication type:
journal article
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.
Published in:
Muscle & Nerve, 2014, v. 50, n. 6, p. 1011, doi. 10.1002/mus.24353
By:
- Castiglioni, Claudia;
- Cassandrini, Denis;
- Fattori, Fabiana;
- Bellacchio, Emanuele;
- D'Amico, Adele;
- Alvarez, Karin;
- Gejman, Roger;
- Diaz, Jorge;
- Santorelli, Filippo M.;
- Romero, Norma B.;
- Bertini, Enrico;
- Bevilacqua, Jorge A.
Publication type:
Article
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
Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.
Published in:
2022
By:
- D'Amico, Adele;
- Longo, Antonella;
- Fattori, Fabiana;
- Tosi, Michele;
- Bosco, Luca;
- Testa, Maria Beatrice Chiarini;
- Paglietti, Maria Giovanna;
- Cherchi, Claudio;
- Carlesi, Adelina;
- Mizzoni, Irene;
- Bertini, Enrico
Publication type:
corrected article
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.
Published in:
2021
By:
- D'Amico, Adele;
- Longo, Antonella;
- Fattori, Fabiana;
- Tosi, Michele;
- Bosco, Luca;
- Chiarini Testa, Maria Beatrice;
- Paglietti, Giovanna;
- Cherchi, Claudio;
- Carlesi, Adelina;
- Mizzoni, Irene;
- Bertini, Enrico;
- Paglietti, Maria Giovanna
Publication type:
journal article
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Published in:
Journal of Neurology, 2022, v. 269, n. 5, p. 2414, doi. 10.1007/s00415-021-10806-0
By:
- Quijano-Roy, Susana;
- Haberlova, Jana;
- Castiglioni, Claudia;
- Vissing, John;
- Munell, Francina;
- Rivier, François;
- Stojkovic, Tanya;
- Malfatti, Edoardo;
- Gómez García de la Banda, Marta;
- Tasca, Giorgio;
- Costa Comellas, Laura;
- Benezit, Audrey;
- Amthor, Helge;
- Dabaj, Ivana;
- Gontijo Camelo, Clara;
- Laforêt, Pascal;
- Rendu, John;
- Romero, Norma B.;
- Cavassa, Eliana;
- Fattori, Fabiana
Publication type:
Article
Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.
Published in:
2016
By:
- Tasca, Giorgio;
- Fattori, Fabiana;
- Monforte, Mauro;
- Hedberg-Oldfors, Carola;
- Sabatelli, Mario;
- Udd, Bjarne;
- Boldrini, Renata;
- Bertini, Enrico;
- Ricci, Enzo;
- Oldfors, Anders
Publication type:
Letter
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Published in:
Journal of Neurology, 2015, v. 262, n. 7, p. 1728, doi. 10.1007/s00415-015-7757-9
By:
- Fattori, Fabiana;
- Maggi, Lorenzo;
- Bruno, Claudio;
- Cassandrini, Denise;
- Codemo, Valentina;
- Catteruccia, Michela;
- Tasca, Giorgio;
- Berardinelli, Angela;
- Magri, Francesca;
- Pane, Marika;
- Rubegni, Anna;
- Santoro, Lucio;
- Ruggiero, Lucia;
- Fiorini, Patrizio;
- Pini, Antonella;
- Mongini, Tiziana;
- Messina, Sonia;
- Brisca, Giacomo;
- Colombo, Irene;
- Astrea, Guja
Publication type:
Article
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
Published in:
Journal of Neurology, 2014, v. 261, n. 5, p. 870, doi. 10.1007/s00415-014-7287-x
By:
- Hedberg, Carola;
- Niceta, Marcello;
- Fattori, Fabiana;
- Lindvall, Björn;
- Ciolfi, Andrea;
- D'Amico, Adele;
- Tasca, Giorgio;
- Petrini, Stefania;
- Tulinius, Mar;
- Tartaglia, Marco;
- Oldfors, Anders;
- Bertini, Enrico
Publication type:
Article
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Published in:
Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 43, doi. 10.1007/s10545-012-9487-9
By:
- Cassandrini, Denise;
- Cilio, Maria;
- Bianchi, Marzia;
- Doimo, Mara;
- Balestri, Martina;
- Tessa, Alessandra;
- Rizza, Teresa;
- Sartori, Geppo;
- Meschini, Maria;
- Nesti, Claudia;
- Tozzi, Giulia;
- Petruzzella, Vittoria;
- Piemonte, Fiorella;
- Bisceglia, Luigi;
- Bruno, Claudio;
- Dionisi-Vici, Carlo;
- D'Amico, Adele;
- Fattori, Fabiana;
- Carrozzo, Rosalba;
- Salviati, Leonardo
Publication type:
Article
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 11, p. 1892, doi. 10.1093/hmg/ddy096
By:
- Sferra, Antonella;
- Fattori, Fabiana;
- Rizza, Teresa;
- Flex, Elsabetta;
- Bellacchio, Emanuele;
- Bruselles, Alessandro;
- Petrini, Stefania;
- Cecchetti, Serena;
- Teson, Massimo;
- Restaldi, Fabrizia;
- Ciolfi, Andrea;
- Santorelli, Filippo M.;
- Zanni, Ginevra;
- Barresi, Sabina;
- Castiglioni, Claudia;
- Tartaglia, Marco;
- Bertini, Enrico
Publication type:
Article
Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology.
Published in:
Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.603774
By:
- Morani, Federica;
- Doccini, Stefano;
- Chiorino, Giovanna;
- Fattori, Fabiana;
- Galatolo, Daniele;
- Sciarrillo, Elisa;
- Gemignani, Federica;
- Züchner, Stephan;
- Bertini, Enrico Silvio;
- Santorelli, Filippo Maria
Publication type:
Article
Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures.
Published in:
Acta Neuropathologica, 2013, v. 125, n. 1, p. 169, doi. 10.1007/s00401-012-1049-6
By:
- Tasca, Giorgio;
- Fattori, Fabiana;
- Ricci, Enzo;
- Monforte, Mauro;
- Rizzo, Valentina;
- Mercuri, Eugenio;
- Bertini, Enrico;
- Silvestri, Gabriella
Publication type:
Article
Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture.
Published in:
Human Mutation, 2013, v. 34, n. 3, p. 525, doi. 10.1002/humu.22269
By:
- Romano, Alessandro;
- Tessa, Alessandra;
- Barca, Amilcare;
- Fattori, Fabiana;
- Fulvia de Leva, Maria;
- Terracciano, Alessandra;
- Storelli, Carlo;
- Santorelli, Filippo Maria;
- Verri, Tiziano
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
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
Published in:
Neurogenetics, 2011, v. 12, n. 1, p. 9, doi. 10.1007/s10048-010-0265-2
By:
- Ferreira, Mariana;
- Torraco, Alessandra;
- Rizza, Teresa;
- Fattori, Fabiana;
- Meschini, Maria;
- Castana, Cinzia;
- Go, Nancy;
- Nargang, Frank;
- Duarte, Margarida;
- Piemonte, Fiorella;
- Dionisi-Vici, Carlo;
- Videira, Arnaldo;
- Vilarinho, Laura;
- Santorelli, Filippo;
- Carrozzo, Rosalba;
- Bertini, Enrico
Publication type:
Article
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.
Published in:
Journal of Cardiovascular Development & Disease (JCDD), 2022, v. 9, n. 10, p. 332, doi. 10.3390/jcdd9100332
By:
- Baban, Anwar;
- Alesi, Viola;
- Magliozzi, Monia;
- Parlapiano, Giovanni;
- Genovese, Silvia;
- Cicenia, Marianna;
- Loddo, Sara;
- Lodato, Valentina;
- Di Chiara, Luca;
- Fattori, Fabiana;
- D'Amico, Adele;
- Francalanci, Paola;
- Amodeo, Antonio;
- Novelli, Antonio;
- Drago, Fabrizio
Publication type:
Article

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