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Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual?
Published in:
Neurological Sciences, 2022, v. 43, n. 8, p. 5095, doi. 10.1007/s10072-022-06137-1
By:
- Colucci, Fabiana;
- Di Bella, Daniela;
- Pisciotta, Chiara;
- Sarto, Elisa;
- Gualandi, Francesca;
- Neri, Marcella;
- Ferlini, Alessandra;
- Contaldi, Elena;
- Pugliatti, Maura;
- Pareyson, Davide;
- Sensi, Mariachiara
Publication type:
Article
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
Published in:
Neurological Sciences, 2021, v. 42, n. 11, p. 4741, doi. 10.1007/s10072-021-05463-0
By:
- Gatti, Marta;
- Magri, Stefania;
- Di Bella, Daniela;
- Sarto, Elisa;
- Taroni, Franco;
- Mariotti, Caterina;
- Nanetti, Lorenzo
Publication type:
Article
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5060, doi. 10.1093/brain/awad240
By:
- Dominik, Natalia;
- Magri, Stefania;
- Currò, Riccardo;
- Abati, Elena;
- Facchini, Stefano;
- Corbetta, Marinella;
- Macpherson, Hannah;
- Bella, Daniela Di;
- Sarto, Elisa;
- Stevanovski, Igor;
- Chintalaphani, Sanjog R;
- Akcimen, Fulya;
- Manini, Arianna;
- Vegezzi, Elisa;
- Quartesan, Ilaria;
- Montgomery, Kylie-Ann;
- Pirota, Valentina;
- Crespan, Emmanuele;
- Perini, Cecilia;
- Grupelli, Glenda Paola
Publication type:
Article
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Published in:
2016
By:
- Synofzik, Matthis;
- Smets, Katrien;
- Mallaret, Martial;
- Di Bella, Daniela;
- Gallenmüller, Constanze;
- Baets, Jonathan;
- Schulze, Martin;
- Magri, Stefania;
- Sarto, Elisa;
- Mustafa, Mona;
- Deconinck, Tine;
- Haack, Tobias;
- Züchner, Stephan;
- Gonzalez, Michael;
- Timmann, Dagmar;
- Stendel, Claudia;
- Klopstock, Thomas;
- Durr, Alexandra;
- Tranchant, Christine;
- Sturm, Marc
Publication type:
journal article
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2277, doi. 10.1002/ajmg.a.61339
By:
- Gatti, Marta;
- Magri, Stefania;
- Nanetti, Lorenzo;
- Sarto, Elisa;
- Di Bella, Daniela;
- Salsano, Ettore;
- Pantaleoni, Chiara;
- Mariotti, Caterina;
- Taroni, Franco
Publication type:
Article
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.
Published in:
2022
By:
- Nanetti, Lorenzo;
- Di Bella, Daniela;
- Magri, Stefania;
- Fichera, Mario;
- Sarto, Elisa;
- Castaldo, Anna;
- Mongelli, Alessia;
- Baratta, Silvia;
- Fenu, Silvia;
- Moscatelli, Marco;
- Bonati, Maria Teresa;
- Martinuzzi, Andrea;
- Mariotti, Caterina;
- Taroni, Franco
Publication type:
Case Study
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 7, p. 1907, doi. 10.1093/brain/awu121
By:
- Pensato, Viviana;
- Castellotti, Barbara;
- Gellera, Cinzia;
- Pareyson, Davide;
- Ciano, Claudia;
- Nanetti, Lorenzo;
- Salsano, Ettore;
- Piscosquito, Giuseppe;
- Sarto, Elisa;
- Eoli, Marica;
- Moroni, Isabella;
- Soliveri, Paola;
- Lamperti, Elena;
- Chiapparini, Luisa;
- Di Bella, Daniela;
- Taroni, Franco;
- Mariotti, Caterina
Publication type:
Article
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
Published in:
Journal of Neurology, 2019, v. 266, n. 2, p. 378, doi. 10.1007/s00415-018-9141-z
By:
- Nanetti, Lorenzo;
- Sarto, Elisa;
- Castaldo, Anna;
- Magri, Stefania;
- Mongelli, Alessia;
- Rossi Sebastiano, Davide;
- Canafoglia, Laura;
- Grisoli, Marina;
- Malaguti, Chiara;
- Rivieri, Francesca;
- D'Amico, Maria Chiara;
- Di Bella, Daniela;
- Franceschetti, Silvana;
- Mariotti, Caterina;
- Taroni, Franco
Publication type:
Article
Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant.
Published in:
Journal of Neurology, 2013, v. 260, n. 8, p. 2124, doi. 10.1007/s00415-013-6958-3
By:
- Potic, Ana;
- Pavlovic, Aleksandra;
- Uziel, Graziella;
- Kozic, Dusko;
- Ostojic, Jelena;
- Rovelli, Attilio;
- Sternic, Nadezda;
- Bjelan, Mladen;
- Sarto, Elisa;
- Bella, Daniela;
- Taroni, Franco
Publication type:
Article
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
Published in:
European Journal of Neurology, 2021, v. 28, n. 3, p. 934, doi. 10.1111/ene.14646
By:
- Di Bella, Daniela;
- Magri, Stefania;
- Benzoni, Chiara;
- Farina, Laura;
- Maccagnano, Carmelo;
- Sarto, Elisa;
- Moscatelli, Marco;
- Baratta, Silvia;
- Ciano, Claudia;
- Piacentini, Sylvie H. M. J.;
- Draghi, Lara;
- Mauro, Elena;
- Pareyson, Davide;
- Gellera, Cinzia;
- Taroni, Franco;
- Salsano, Ettore
Publication type:
Article
Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12.
Published in:
Neurogenetics, 2019, v. 20, n. 3, p. 161, doi. 10.1007/s10048-019-00580-7
By:
- Rossi, Jessica;
- Cavallieri, Francesco;
- Giovannini, Giada;
- Budriesi, Carla;
- Gessani, Annalisa;
- Carecchio, Miryam;
- Di Bella, Daniela;
- Sarto, Elisa;
- Mandrioli, Jessica;
- Contardi, Sara;
- Meletti, Stefano
Publication type:
Article

Found: 11