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Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.
Published in:
Neurological Sciences, 2024, v. 45, n. 9, p. 4563, doi. 10.1007/s10072-024-07494-9
By:
- Gentile, Luca;
- Mazzeo, Anna;
- Briani, Chiara;
- Casagrande, Silvia;
- De Luca, Marcella;
- Fabrizi, Gian Maria;
- Gagliardi, Christian;
- Gemelli, Chiara;
- Forcina, Francesca;
- Grandis, Marina;
- Guglielmino, Valeria;
- Iabichella, Giacomo;
- Leonardi, Luca;
- Lozza, Alessandro;
- Manganelli, Fiore;
- Mussinelli, Roberta;
- My, Filomena;
- Occhipinti, Giuseppe;
- Fenu, Silvia;
- Russo, Massimo
Publication type:
Article
Extensive leukoencephalopathy in coeliac disease: report of three cases and review of the literature.
Published in:
2022
By:
- Benzoni, Chiara;
- Moscatelli, Marco;
- Fenu, Silvia;
- Pareyson, Davide;
- Salsano, Ettore
Publication type:
Case Study
Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study.
Published in:
Neurological Sciences, 2021, v. 42, n. 1, p. 235, doi. 10.1007/s10072-020-04576-2
By:
- Bianchi-Marzoli, Stefania;
- Fenu, Silvia;
- Melzi, Lisa;
- Benzoni, Chiara;
- Antonazzo, Filippo;
- Tomas Roldan, Eugenia;
- Farina, Laura;
- Tremolada, Gemma;
- Mauro, Elena;
- Pensato, Viviana;
- Gellera, Cinzia;
- Pareyson, Davide;
- Salsano, Ettore
Publication type:
Article
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Published in:
2018
By:
- Parodi, Livia;
- Fenu, Silvia;
- Barbier, Mathieu;
- Banneau, Guillaume;
- Duyckaerts, Charles;
- Montcel, Sophie Tezenas du;
- Monin, Marie-Lorraine;
- Said, Samia Ait;
- Guegan, Justine;
- Tallaksen, Chantal M E;
- Tezenas du Montcel, Sophie;
- Ait Said, Samia;
- Sablonniere, Bertrand;
- Brice, Alexis;
- Stevanin, Giovanni;
- Depienne, Christel;
- Durr, Alexandra;
- SPATAX network
Publication type:
journal article
Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5673, doi. 10.3390/ijms22115673
By:
- Malacarne, Claudia;
- Galbiati, Mariarita;
- Giagnorio, Eleonora;
- Cavalcante, Paola;
- Salerno, Franco;
- Andreetta, Francesca;
- Cagnoli, Cinza;
- Taiana, Michela;
- Nizzardo, Monica;
- Corti, Stefania;
- Pensato, Viviana;
- Venerando, Anna;
- Gellera, Cinzia;
- Fenu, Silvia;
- Pareyson, Davide;
- Masson, Riccardo;
- Maggi, Lorenzo;
- Dalla Bella, Eleonora;
- Lauria, Giuseppe;
- Mantegazza, Renato
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
hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers.
Published in:
Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 780, doi. 10.3390/brainsci10110780
By:
- Luigetti, Marco;
- Romozzi, Marina;
- Bisogni, Giulia;
- Cardellini, Davide;
- Cavallaro, Tiziana;
- Di Paolantonio, Andrea;
- Fabrizi, Gian Maria;
- Fenu, Silvia;
- Gentile, Luca;
- Grandis, Marina;
- Marucci, Gianluca;
- Massucco, Sara;
- Mazzeo, Anna;
- Pareyson, Davide;
- Romano, Angela;
- Russo, Massimo;
- Schenone, Angelo;
- Tagliapietra, Matteo;
- Tozza, Stefano;
- Vita, Giuseppe
Publication type:
Article
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02776-5
By:
- Fortunato, Fernanda;
- Bianchi, Francesca;
- Ricci, Giulia;
- Torri, Francesca;
- Gualandi, Francesca;
- Neri, Marcella;
- Farnè, Marianna;
- Giannini, Fabio;
- Malandrini, Alessandro;
- Volpi, Nila;
- Lopergolo, Diego;
- Silani, Vincenzo;
- Ticozzi, Nicola;
- Verde, Federico;
- Pareyson, Davide;
- Fenu, Silvia;
- Bonanno, Silvia;
- Nigro, Vincenzo;
- Peduto, Cristina;
- D'Ambrosio, Paola
Publication type:
Article
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy.
Published in:
2021
By:
- Magliano, Lorenza;
- Obici, Laura;
- Sforzini, Claudia;
- Mazzeo, Anna;
- Russo, Massimo;
- Cappelli, Francesco;
- Fenu, Silvia;
- Luigetti, Marco;
- Tagliapietra, Matteo;
- Gemelli, Chiara;
- Leonardi, Luca;
- Tozza, Stefano;
- Pradotto, Luca Guglielmo;
- Citarelli, Giulia;
- Mauro, Alessandro;
- Manganelli, Fiore;
- Antonini, Giovanni;
- Grandis, Marina;
- Fabrizi, Gian Maria;
- Sabatelli, Mario
Publication type:
journal article
Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy.
Published in:
Journal of Neurology, 2023, v. 270, n. 10, p. 4827, doi. 10.1007/s00415-023-11813-z
By:
- Gasparotti, Roberto;
- Salvalaggio, Alessandro;
- Corbo, Daniele;
- Agazzi, Giorgio;
- Cacciavillani, Mario;
- Lozza, Alessandro;
- Fenu, Silvia;
- De Vigili, Grazia;
- Tagliapietra, Matteo;
- Fabrizi, Gian Maria;
- Pareyson, Davide;
- Obici, Laura;
- Briani, Chiara
Publication type:
Article
Correction to: Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia.
Published in:
2021
By:
- Benzoni, Chiara;
- Moscatelli, Marco;
- Fenu, Silvia;
- Venerando, Anna;
- Salsano, Ettore
Publication type:
Correction Notice
Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia.
Published in:
2021
By:
- Benzoni, Chiara;
- Moscatelli, Marco;
- Fenu, Silvia;
- Venerando, Anna;
- Salsano, Ettore
Publication type:
Letter
Asymptomatic adrenoleukodystrophy in elderly males.
Published in:
2020
By:
- Benzoni, Chiara;
- Fenu, Silvia;
- Pensato, Viviana;
- Mauro, Elena;
- Gellera, Cinzia;
- Pareyson, Davide;
- Salsano, Ettore
Publication type:
Letter
Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?
Published in:
European Journal of Neurology, 2024, v. 31, n. 1, p. 1, doi. 10.1111/ene.16070
By:
- Romano, Angela;
- Primiano, Guido;
- Antonini, Giovanni;
- Ceccanti, Marco;
- Fenu, Silvia;
- Forcina, Francesca;
- Gentile, Luca;
- Inghilleri, Maurizio;
- Leonardi, Luca;
- Manganelli, Fiore;
- Obici, Laura;
- Sabino, Andrea;
- Sciarrone, Maria Ausilia;
- Tozza, Stefano;
- Vitali, Francesca;
- Luigetti, Marco
Publication type:
Article
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.
Published in:
Neurogenetics, 2021, v. 22, n. 4, p. 347, doi. 10.1007/s10048-021-00667-0
By:
- Cavestro, Chiara;
- Panteghini, Celeste;
- Reale, Chiara;
- Nasca, Alessia;
- Fenu, Silvia;
- Salsano, Ettore;
- Chiapparini, Luisa;
- Garavaglia, Barbara;
- Pareyson, Davide;
- Di Meo, Ivano;
- Tiranti, Valeria
Publication type:
Article
Validation of the Italian version of the Charcot‐Marie‐Tooth Health Index.
Published in:
Journal of the Peripheral Nervous System, 2020, v. 25, n. 3, p. 292, doi. 10.1111/jns.12397
By:
- Pisciotta, Chiara;
- Ciafaloni, Emma;
- Zuccarino, Riccardo;
- Calabrese, Daniela;
- Saveri, Paola;
- Fenu, Silvia;
- Tramacere, Irene;
- Genovese, Filippo;
- Dilek, Nuran;
- Johnson, Nicholas E.;
- Heatwole, Chad;
- Herrmann, David N.;
- Pareyson, Davide
Publication type:
Article

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