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DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Published in:
Annals of Neurology, 2012, v. 72, n. 4, p. 550, doi. 10.1002/ana.23632
By:
- Barone, Rita;
- Aiello, Chiara;
- Race, Valérie;
- Morava, Eva;
- Foulquier, Francois;
- Riemersma, Moniek;
- Passarelli, Chiara;
- Concolino, Daniela;
- Carella, Massimo;
- Santorelli, Filippo;
- Vleugels, Wendy;
- Mercuri, Eugenio;
- Garozzo, Domenico;
- Sturiale, Luisa;
- Messina, Sonia;
- Jaeken, Jaak;
- Fiumara, Agata;
- Wevers, Ron A.;
- Bertini, Enrico;
- Matthijs, Gert
Publication type:
Article
Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation.
Published in:
Children, 2024, v. 11, n. 5, p. 541, doi. 10.3390/children11050541
By:
- Cipriano, Lorenzo;
- Piscopo, Raffaele;
- Aiello, Chiara;
- Novelli, Antonio;
- Iolascon, Achille;
- Piscopo, Carmelo
Publication type:
Article
Cobalamin C defect presenting as severe neonatal hyperammonemia.
Published in:
2011
By:
- Martinelli, Diego;
- Dotta, Andrea;
- Massella, Laura;
- Picca, Stefano;
- Di Pede, Alessandra;
- Boenzi, Sara;
- Aiello, Chiara;
- Dionisi-Vici, Carlo
Publication type:
journal article
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 83, doi. 10.1002/acn3.50960
By:
- Mendes, Marisa I.;
- Green, Lydia M. C.;
- Bertini, Enrico;
- Tonduti, Davide;
- Aiello, Chiara;
- Smith, Desiree;
- Salsano, Ettore;
- Beerepoot, Shanice;
- Hertecant, Jozef;
- Spiczak, Sarah;
- Livingston, John H.;
- Emrick, Lisa;
- Fraser, Jamie;
- Russell, Laura;
- Bernard, Genevieve;
- Magri, Stefania;
- Di Bella, Daniela;
- Taroni, Franco;
- Koenig, Mary K.;
- Moroni, Isabella
Publication type:
Article
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.
Published in:
Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 246, doi. 10.3390/brainsci11020246
By:
- Riso, Vittorio;
- Rossi, Salvatore;
- Nicoletti, Tommaso F.;
- Tessa, Alessandra;
- Travaglini, Lorena;
- Zanni, Ginevra;
- Aiello, Chiara;
- Perna, Alessia;
- Barghigiani, Melissa;
- Pomponi, Maria Grazia;
- Santorelli, Filippo M.;
- Silvestri, Gabriella;
- Fernandez-Teruel, Alberto
Publication type:
Article
Expanding the Clinical and Mutational Spectrum of the PLP1 -Related Hypomyelination of Early Myelinated Structures (HEMS).
Published in:
Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 93, doi. 10.3390/brainsci11010093
By:
- Nicita, Francesco;
- Aiello, Chiara;
- Vasco, Gessica;
- Valeriani, Massimiliano;
- Stregapede, Fabrizia;
- Sancesario, Andrea;
- Armando, Michela;
- Bertini, Enrico
Publication type:
Article
Type I Interferon Signature in NOTCH1‐Related Leukoencephalopathy.
Published in:
Annals of Neurology, 2023, v. 93, n. 5, p. 1041, doi. 10.1002/ana.26631
By:
- Nicita, Francesco;
- Travaglini, Lorena;
- Matteo, Valentina;
- Aiello, Chiara;
- Longo, Daniela;
- Insalaco, Antonella;
- Bertini, Enrico;
- Prencipe, Giusi
Publication type:
Article
Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature.
Published in:
2021
By:
- Picchi, Eliseo;
- Ferrazzoli, Valentina;
- Pizzicannella, Giulia;
- Pucci, Noemi;
- Pitocchi, Francesca;
- Valente, Fabrizio;
- Minosse, Silvia;
- Izzi, Francesca;
- Schirinzi, Tommaso;
- Bonomi, Chiara;
- Aiello, Chiara;
- Floris, Roberto;
- Garaci, Francesco;
- Di Giuliano, Francesca
Publication type:
journal article
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 10, p. 2166, doi. 10.1093/hmg/dds032
By:
- Lanciotti, Angela;
- Brignone, Maria S.;
- Molinari, Paola;
- Visentin, Sergio;
- De Nuccio, Chiara;
- Macchia, Gianfranco;
- Aiello, Chiara;
- Bertini, Enrico;
- Aloisi, Francesca;
- Petrucci, Tamara C.;
- Ambrosini, Elena
Publication type:
Article
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Published in:
2021
By:
- Sferra, Antonella;
- Fortugno, Paola;
- Motta, Marialetizia;
- Aiello, Chiara;
- Petrini, Stefania;
- Ciolfi, Andrea;
- Cipressa, Francesca;
- Moroni, Isabella;
- Leuzzi, Vincenzo;
- Pieroni, Luisa;
- Marini, Federica;
- Tanguy, Odile Boespflug;
- Eymard-Pierre, Eleonore;
- Danti, Federica Rachele;
- Compagnucci, Claudia;
- Zambruno, Giovanna;
- Brusco, Alfredo;
- Santorelli, Filippo M;
- Chiapparini, Luisa;
- Francalanci, Paola
Publication type:
journal article
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
Published in:
2017
By:
- Dorboz, Imen;
- Aiello, Chiara;
- Simons, Cas;
- Thompson Stone, Robert;
- Niceta, Marcello;
- Elmaleh, Monique;
- Abuawad, Mohammad;
- Doummar, Diane;
- Bruselles, Alessandro;
- Wolf, Nicole I.;
- Travaglini, Lorena;
- Boespflug-Tanguy, Odile;
- Tartaglia, Marco;
- Vanderver, Adeline;
- Rodriguez, Diana;
- Bertini, Enrico;
- Stone, Robert Thompson
Publication type:
journal article
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Published in:
Human Mutation, 2009, v. 30, n. 3, p. E530, doi. 10.1002/humu.20975
By:
- Aiello, Chiara;
- Terracciano, Alessandra;
- Simonati, Alessandro;
- Discepoli, Giancarlo;
- Cannelli, Natalia;
- Claps, Dianela;
- Crow, Yanick J.;
- Bianchi, Marzia;
- Kitzmuller, Claudia;
- Longo, Daniela;
- Tavoni, Antonietta;
- Franzoni, Emilio;
- Tessa, Alessandra;
- Veneselli, Edwige;
- Boldrini, Renata;
- Filocamo, Mirella;
- Williams, Ruth E.;
- Bertini, Enrico S.;
- Biancheri, Roberta;
- Carrozzo, Rosalba
Publication type:
Article
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?
Published in:
Cerebellum, 2014, v. 13, n. 1, p. 79, doi. 10.1007/s12311-013-0521-8
By:
- Poretti, Andrea;
- Häusler, Martin;
- Moers, Arpad;
- Baumgartner, Bastian;
- Zerres, Klaus;
- Klein, Andrea;
- Aiello, Chiara;
- Moro, Francesca;
- Zanni, Ginevra;
- Santorelli, Filippo;
- Huisman, Thierry;
- Weis, Joachim;
- Valente, Enza;
- Bertini, Enrico;
- Boltshauser, Eugen
Publication type:
Article
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Published in:
2017
By:
- Nasca, Alessia;
- Rizza, Teresa;
- Doimo, Mara;
- Legati, Andrea;
- Ciolfi, Andrea;
- Diodato, Daria;
- Calderan, Cristina;
- Carrara, Gianfranco;
- Lamantea, Eleonora;
- Aiello, Chiara;
- Di Nottia, Michela;
- Niceta, Marcello;
- Lamperti, Costanza;
- Ardissone, Anna;
- Bianchi-Marzoli, Stefania;
- Iarossi, Giancarlo;
- Bertini, Enrico;
- Moroni, Isabella;
- Tartaglia, Marco;
- Salviati, Leonardo
Publication type:
journal article
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Published in:
Neurogenetics, 2018, v. 19, n. 2, p. 111, doi. 10.1007/s10048-018-0545-9
By:
- Travaglini, Lorena;
- Aiello, Chiara;
- Stregapede, Fabrizia;
- D’Amico, Adele;
- Alesi, Viola;
- Ciolfi, Andrea;
- Bruselles, Alessandro;
- Catteruccia, Michela;
- Pizzi, Simone;
- Zanni, Ginevra;
- Loddo, Sara;
- Barresi, Sabina;
- Vasco, Gessica;
- Tartaglia, Marco;
- Bertini, Enrico;
- Nicita, Francesco
Publication type:
Article
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.
Published in:
Neurogenetics, 2014, v. 15, n. 1, p. 41, doi. 10.1007/s10048-013-0381-x
By:
- Arnedo, Tanit;
- Aiello, Chiara;
- Jeworutzki, Elena;
- Dentici, Maria;
- Uziel, Graziella;
- Simonati, Alessandro;
- Pusch, Michael;
- Bertini, Enrico;
- Estévez, Raúl
Publication type:
Article
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
Published in:
Neurogenetics, 2012, v. 13, n. 3, p. 205, doi. 10.1007/s10048-012-0331-z
By:
- Mancini, Cecilia;
- Vaula, Giovanna;
- Scalzitti, Laura;
- Cavalieri, Simona;
- Bertini, Enrico;
- Aiello, Chiara;
- Lucchini, Cinzia;
- Gatti, Richard;
- Brussino, Alessandro;
- Brusco, Alfredo
Publication type:
Article
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1 -Related Disorders.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6723, doi. 10.3390/ijms23126723
By:
- Romaniello, Romina;
- Pasca, Ludovica;
- Panzeri, Elena;
- D'Abrusco, Fulvio;
- Travaglini, Lorena;
- Serpieri, Valentina;
- Signorini, Sabrina;
- Aiello, Chiara;
- Bertini, Enrico;
- Bassi, Maria Teresa;
- Valente, Enza Maria;
- Zanni, Ginevra;
- Borgatti, Renato;
- Arrigoni, Filippo
Publication type:
Article

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