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Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Published in:
Neurological Sciences, 2024, v. 45, n. 3, p. 1007, doi. 10.1007/s10072-023-07101-3
By:
- Nanetti, Lorenzo;
- Kearney, Mary;
- Boesch, Sylvia;
- Stovickova, Lucie;
- Ortigoza-Escobar, Juan Darío;
- Macaya, Alfons;
- Gomez-Andres, David;
- Roze, Emmanuel;
- Molnar, Maria-Judit;
- Wolf, Nicole I.;
- Darling, Alejandra;
- Vasco, Gessica;
- Bertini, Enrico;
- Indelicato, Elisabetta;
- Neubauer, David;
- Haack, Tobias B.;
- Sagi, Judit C.;
- Danti, Federica R.;
- Sival, Deborah;
- Zanni, Ginevra
Publication type:
Article
Non-invasive Focal Mechanical Vibrations Delivered by Wearable Devices: An Open-Label Pilot Study in Childhood Ataxia.
Published in:
Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00849
By:
- Schirinzi, Tommaso;
- Romano, Alberto;
- Favetta, Martina;
- Sancesario, Andrea;
- Burattini, Riccardo;
- Summa, Susanna;
- Della Bella, Gessica;
- Castelli, Enrico;
- Bertini, Enrico;
- Petrarca, Maurizio;
- Vasco, Gessica
Publication type:
Article
Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia.
Published in:
International Journal of Molecular Sciences, 2017, v. 18, n. 10, p. 2173, doi. 10.3390/ijms18102173
By:
- Petrillo, Sara;
- Piermarini, Emanuela;
- Pastore, Anna;
- Vasco, Gessica;
- Schirinzi, Tommaso;
- Carrozzo, Rosalba;
- Bertini, Enrico;
- Piemonte, Fiorella
Publication type:
Article
The impact of vision on the dynamic characteristics of the gait: strategies in children with blindness.
Published in:
Experimental Brain Research, 2016, v. 234, n. 9, p. 2619, doi. 10.1007/s00221-016-4666-9
By:
- Gazzellini, Simone;
- Lispi, Maria;
- Castelli, Enrico;
- Trombetti, Alessandro;
- Carniel, Sacha;
- Vasco, Gessica;
- Napolitano, Antonio;
- Petrarca, Maurizio
Publication type:
Article
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Published in:
Cerebellum, 2024, v. 23, n. 4, p. 1566, doi. 10.1007/s12311-023-01625-2
By:
- Ilg, Winfried;
- Milne, Sarah;
- Schmitz-Hübsch, Tanja;
- Alcock, Lisa;
- Beichert, Lukas;
- Bertini, Enrico;
- Mohamed Ibrahim, Norlinah;
- Dawes, Helen;
- Gomez, Christopher M.;
- Hanagasi, Hasmet;
- Kinnunen, Kirsi M.;
- Minnerop, Martina;
- Németh, Andrea H.;
- Newman, Jane;
- Ng, Yi Shiau;
- Rentz, Clara;
- Samanci, Bedia;
- Shah, Vrutangkumar V.;
- Summa, Susanna;
- Vasco, Gessica
Publication type:
Article
Quantitative Speech Assessment in Ataxia—Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Markers.
Published in:
Cerebellum, 2024, v. 23, n. 3, p. 1128, doi. 10.1007/s12311-023-01623-4
By:
- Vogel, Adam P.;
- Sobanska, Anna;
- Gupta, Anoopum;
- Vasco, Gessica;
- Grobe-Einsler, Marcus;
- Summa, Susanna;
- Borel, Stephanie
Publication type:
Article
Speech and Language Disorders in Friedreich Ataxia: Highlights on Phenomenology, Assessment, and Therapy.
Published in:
Cerebellum, 2020, v. 19, n. 1, p. 126, doi. 10.1007/s12311-019-01084-8
By:
- Schirinzi, Tommaso;
- Sancesario, Andrea;
- Bertini, Enrico;
- Castelli, Enrico;
- Vasco, Gessica
Publication type:
Article
Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.
Published in:
Cerebellum, 2018, v. 17, n. 4, p. 499, doi. 10.1007/s12311-018-0924-7
By:
- Nicita, Francesco;
- Tasca, Giorgio;
- Nardella, Marta;
- Bellacchio, Emanuele;
- Camponeschi, Ilaria;
- Vasco, Gessica;
- Schirinzi, Tommaso;
- Bertini, Enrico;
- Zanni, Ginevra
Publication type:
Article
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy.
Published in:
Neuroepidemiology, 2022, v. 56, n. 3, p. 212, doi. 10.1159/000525159
By:
- Romano, Silvia;
- Bacigalupo, Ilaria;
- Marcotulli, Christian;
- Cioffi, Ettore;
- Bertini, Enrico Silvio;
- Vasco, Gessica;
- Perna, Alessia;
- Petrucci, Antonio;
- Massa, Roberto;
- Frezza, Erica;
- Romano, Carmela;
- Salvetti, Marco;
- Ristori, Giovanni;
- Silvestri, Gabriella;
- Vanacore, Nicola;
- Casali, Carlo
Publication type:
Article
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1604, doi. 10.1002/ajmg.a.35419
By:
- Marangi, Giuseppe;
- Ricciardi, Stefania;
- Orteschi, Daniela;
- Tenconi, Romano;
- Monica, Matteo Della;
- Scarano, Gioacchino;
- Battaglia, Domenica;
- Lettori, Donatella;
- Vasco, Gessica;
- Zollino, Marcella
Publication type:
Article
Quantification of postural stability in minimally disabled multiple sclerosis patients by means of dynamic posturography: an observational study.
Published in:
2017
By:
- Grassi, Lucia;
- Rossi, Stefano;
- Studer, Valeria;
- Vasco, Gessica;
- Motta, Caterina;
- Patanè, Fabrizio;
- Castelli, Enrico;
- Rossi, Silvia;
- Cappa, Paolo
Publication type:
journal article
Visual function in nonsyndromic craniosynostosis: past, present, and future.
Published in:
Child's Nervous System, 2007, v. 23, n. 12, p. 1461, doi. 10.1007/s00381-007-0435-1
By:
- Giovanni Baranello;
- Gessica Vasco;
- Daniela Ricci
Publication type:
Article
A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy.
Published in:
Developmental Medicine & Child Neurology, 2012, v. 54, n. 10, p. 879, doi. 10.1111/j.1469-8749.2012.04345.x
By:
- MAZZONE, ELENA S;
- VASCO, GESSICA;
- PALERMO, CONCETTA;
- BIANCO, FLAVIANA;
- GALLUCCIO, CARMEN;
- RICOTTI, VALERIA;
- CASTRONOVO, ANTONELLA D;
- MAURO, MARIA SOLE DI;
- PANE, MARIKA;
- MAYHEW, ANNA;
- MERCURI, EUGENIO
Publication type:
Article
Upper Body Physical Rehabilitation for Children with Ataxia through IMU-Based Exergame.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11041065
By:
- Romano, Alberto;
- Favetta, Martina;
- Summa, Susanna;
- Schirinzi, Tommaso;
- Bertini, Enrico Silvio;
- Castelli, Enrico;
- Vasco, Gessica;
- Petrarca, Maurizio
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
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 630, doi. 10.1038/ejhg.2012.233
By:
- Tiziano, Francesco D;
- Lomastro, Rosa;
- Di Pietro, Lorena;
- Barbara Pasanisi, Maria;
- Fiori, Stefania;
- Angelozzi, Carla;
- Abiusi, Emanuela;
- Angelini, Corrado;
- Sorarù, Gianni;
- Gaiani, Alessandra;
- Mongini, Tiziana;
- Vercelli, Liliana;
- Vasco, Gessica;
- Vita, Giuseppe;
- Luca Vita, Gian;
- Messina, Sonia;
- Politano, Luisa;
- Passamano, Luigia;
- Di Gregorio, Grazia;
- Montomoli, Cristina
Publication type:
Article
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Published in:
2020
By:
- Traschütz, Andreas;
- Schirinzi, Tommaso;
- Laugwitz, Lucia;
- Murray, Nathan H.;
- Bingman, Craig A.;
- Reich, Selina;
- Kern, Jan;
- Heinzmann, Anna;
- Vasco, Gessica;
- Bertini, Enrico;
- Zanni, Ginevra;
- Durr, Alexandra;
- Magri, Stefania;
- Taroni, Franco;
- Malandrini, Alessandro;
- Baets, Jonathan;
- Jonghe, Peter;
- Ridder, Willem;
- Bereau, Matthieu;
- Demuth, Stephanie
Publication type:
journal article
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine.
Published in:
Annals of Neurology, 2010, v. 67, n. 2, p. 201, doi. 10.1002/ana.21846
By:
- Mercuri, Eugenio;
- Clements, Emma;
- Offiah, Amaka;
- Pichiecchio, Anna;
- Vasco, Gessica;
- Bianco, Flaviana;
- Berardinelli, Angela;
- Manzur, Adnan;
- Pane, Marika;
- Messina, Sonia;
- Gualandi, Francesca;
- Ricci, Enzo;
- Rutherford, Mary;
- Muntoni, Francesco
Publication type:
Article
White matter abnormalities in 15 subjects with SPG76.
Published in:
Journal of Neurology, 2023, v. 270, n. 12, p. 5784, doi. 10.1007/s00415-023-11918-5
By:
- Alkhalifa, Abdulrahman;
- Chen, Shihan;
- Hasiloglu, Zehra Isik;
- Filosto, Massimiliano;
- Cali, Elisa;
- Houlden, Henry;
- Sgobbi de Souza, Paulo;
- Alavi, Afagh;
- Goizet, Cyril;
- Stevanin, Giovanni;
- Taithe, Frederic;
- Nicita, Francesco;
- Vasco, Gessica;
- Tozza, Stefano;
- Cocozza, Sirio;
- Carboni, Nicola;
- Figus, Andrea;
- Wu, Jianjun;
- Basak, A. Nazli;
- Brais, Bernard
Publication type:
Article
Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts.
Published in:
Antioxidants, 2022, v. 11, n. 11, p. 2125, doi. 10.3390/antiox11112125
By:
- Petrillo, Sara;
- D'Amico, Jessica;
- Nicita, Francesco;
- Torda, Caterina;
- Vasco, Gessica;
- Bertini, Enrico S.;
- Cappa, Marco;
- Piemonte, Fiorella
Publication type:
Article
Functional and Gait Assessment in Children and Adolescents Affected by Friedreich’s Ataxia: A One-Year Longitudinal Study.
Published in:
PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162463
By:
- Vasco, Gessica;
- Gazzellini, Simone;
- Petrarca, Maurizio;
- Lispi, Maria Luisa;
- Pisano, Alessandra;
- Zazza, Marco;
- Della Bella, Gessica;
- Castelli, Enrico;
- Bertini, Enrico
Publication type:
Article
Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance.
Published in:
Human Mutation, 2022, v. 43, n. 1, p. 67, doi. 10.1002/humu.24293
By:
- Nuovo, Sara;
- Baglioni, Valentina;
- De Mori, Roberta;
- Tardivo, Silvia;
- Caputi, Caterina;
- Ginevrino, Monia;
- Micalizzi, Alessia;
- Masuelli, Laura;
- Federici, Giulia;
- Casella, Antonella;
- Lorefice, Elisa;
- Anello, Danila;
- Tolve, Manuela;
- Farini, Donatella;
- Bertini, Enrico;
- Zanni, Ginevra;
- Travaglini, Lorena;
- Vasco, Gessica;
- Sette, Claudio;
- Carducci, Carla
Publication type:
Article
Remember Friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy. Revisited.
Published in:
Minerva Pediatrics, 2023, v. 75, n. 1, p. 117, doi. 10.23736/S2724-5276.21.05969-3
By:
- BABAN, Anwar;
- CICENIA, Marianna;
- TRAVAGLINI, Lorena;
- CALÌ, Federica;
- VASCO, Gessica;
- FRANCALANCI, Paola;
- NOVELLI, Antonio;
- ADORISIO, Rachele;
- AMODEO, Antonio;
- DALLAPICCOLA, Bruno;
- BERTINI, Enrico;
- DRAGO, Fabrizio
Publication type:
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
Influence of sagittal pelvic attitude on gait pattern in normally developed people and interactions with neurological pathologies: A pilot study.
Published in:
Frontiers in Human Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnhum.2022.797282
By:
- Favetta, Martina;
- Romano, Alberto;
- Summa, Susanna;
- Colazza, Alessandra;
- Minosse, Silvia;
- Vasco, Gessica;
- Castelli, Enrico;
- Petrarca, Maurizio
Publication type:
Article
Comparison of the Gait Biomechanical Constraints in Three Different Type of Neuromotor Damages.
Published in:
Frontiers in Human Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnhum.2022.822205
By:
- Minosse, Silvia;
- Favetta, Martina;
- Romano, Alberto;
- Pisano, Alessandra;
- Summa, Susanna;
- Schirinzi, Tommaso;
- Vasco, Gessica;
- Castelli, Enrico;
- Petrarca, Maurizio
Publication type:
Article
Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich's Ataxia: an observational study.
Published in:
Journal of NeuroEngineering & Rehabilitation (JNER), 2015, v. 12, n. 1, p. 1, doi. 10.1186/s12984-015-0032-6
By:
- Germanotta, Marco;
- Vasco, Gessica;
- Petrarca, Maurizio;
- Rossi, Stefano;
- Carniel, Sacha;
- Bertini, Enrico;
- Cappa, Paolo;
- Castelli, Enrico
Publication type:
Article

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