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Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63824
By:
- Chelleri, Cristina;
- Brolatti, Noemi;
- De Marco, Patrizia;
- Ognibene, Marzia;
- Diana, Maria Cristina;
- Madia, Francesca;
- Duca, Marco Di;
- Santangelo, Andrea;
- Capra, Valeria;
- Striano, Pasquale;
- Zara, Federico;
- Scala, Marcello
Publication type:
Article
Body mass index in type 2 spinal muscular atrophy: a longitudinal study.
Published in:
European Journal of Pediatrics, 2022, v. 181, n. 5, p. 1923, doi. 10.1007/s00431-021-04325-3
By:
- Ferrantini, Gloria;
- Coratti, Giorgia;
- Onesimo, Roberta;
- Lucibello, Simona;
- Bompard, Sarah;
- Turrini, Ida;
- Cicala, Graziamaria;
- Caprarelli, Michela;
- Pera, Maria Carmela;
- Bravetti, Chiara;
- Berti, Beatrice;
- Giorgio, Valentina;
- Bruno, Claudio;
- Brolatti, Noemi;
- Panicucci, Chiara;
- D'Amico, Adele;
- Longo, Antonella;
- Leoni, Chiara;
- Sansone, Valeria A.;
- Albamonte, Emilio
Publication type:
Article
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1.
Published in:
Journal of Clinical Medicine, 2023, v. 12, n. 24, p. 7553, doi. 10.3390/jcm12247553
By:
- Brolatti, Noemi;
- Trucco, Federica;
- Ferretti, Marta;
- Avanti, Chiara;
- Tacchetti, Paola;
- Panicucci, Chiara;
- Striano, Pasquale;
- Minetti, Carlo;
- Bruno, Claudio;
- Pedemonte, Marina
Publication type:
Article
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Published in:
Neuropathology & Applied Neurobiology, 2022, v. 48, n. 7, p. 1, doi. 10.1111/nan.12842
By:
- Fiorillo, Chiara;
- Capodivento, Giovanna;
- Geroldi, Alessandro;
- Tozza, Stefano;
- Moroni, Isabella;
- Mohassel, Payam;
- Cataldi, Matteo;
- Campana, Chiara;
- Morando, Simone;
- Panicucci, Chiara;
- Pedemonte, Marina;
- Brolatti, Noemi;
- Siliquini, Sabrina;
- Traverso, Monica;
- Baratto, Serena;
- Debellis, Doriana;
- Magri, Stefania;
- Prada, Valeria;
- Bellone, Emilia;
- Salpietro, Vincenzo
Publication type:
Article
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.
Published in:
2022
By:
- Cances, Claude;
- Vlodavets, Dmitry;
- Comi, Giacomo Pietro;
- Masson, Riccardo;
- Mazurkiewicz-Bełdzińska, Maria;
- Saito, Kayoko;
- Zanoteli, Edmar;
- Dodman, Angela;
- El-Khairi, Muna;
- Gorni, Ksenija;
- Gravestock, Isaac;
- Hoffart, Janine;
- Scalco, Renata S.;
- Darras, Basil T.;
- the ANCHOVY Working Group;
- Alberti, Katia;
- Baranello, Giovanni;
- Barisic, Nina;
- Brolatti, Noemi;
- Bruno, Claudio
Publication type:
journal article
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.
Published in:
Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-024-05426-6
By:
- Panicucci, Chiara;
- Sahin, Eray;
- Bartolucci, Martina;
- Casalini, Sara;
- Brolatti, Noemi;
- Pedemonte, Marina;
- Baratto, Serena;
- Pintus, Sara;
- Principi, Elisa;
- D'Amico, Adele;
- Pane, Marika;
- Sframeli, Marina;
- Messina, Sonia;
- Albamonte, Emilio;
- Sansone, Valeria A.;
- Mercuri, Eugenio;
- Bertini, Enrico;
- Sezerman, Ugur;
- Petretto, Andrea;
- Bruno, Claudio
Publication type:
Article
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
Published in:
European Journal of Neurology, 2024, v. 31, n. 8, p. 1, doi. 10.1111/ene.16309
By:
- Coratti, Giorgia;
- Bovis, Francesca;
- Pera, Maria Carmela;
- Scoto, Mariacristina;
- Montes, Jacqueline;
- Pasternak, Amy;
- Mayhew, Anna;
- Muni‐Lofra, Robert;
- Duong, Tina;
- Rohwer, Annemarie;
- Dunaway Young, Sally;
- Civitello, Matthew;
- Salmin, Francesca;
- Mizzoni, Irene;
- Morando, Simone;
- Pane, Marika;
- Albamonte, Emilio;
- D'Amico, Adele;
- Brolatti, Noemi;
- Sframeli, Maria
Publication type:
Article
Type I spinal muscular atrophy patients treated with nusinersen: 4‐year follow‐up of motor, respiratory and bulbar function.
Published in:
European Journal of Neurology, 2023, v. 30, n. 6, p. 1755, doi. 10.1111/ene.15768
By:
- Pane, Marika;
- Coratti, Giorgia;
- Sansone, Valeria A.;
- Messina, Sonia;
- Catteruccia, Michela;
- Bruno, Claudio;
- Sframeli, Maria;
- Albamonte, Emilio;
- Pedemonte, Marina;
- Brolatti, Noemi;
- Mizzoni, Irene;
- D'Amico, Adele;
- Bravetti, Chiara;
- Berti, Beatrice;
- Palermo, Concetta;
- Leone, Daniela;
- Salmin, Francesca;
- De Sanctis, Roberto;
- Pera, Maria Carmela;
- Piastra, Marco
Publication type:
Article
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.
Published in:
Biomedicines, 2021, v. 9, n. 1, p. 75, doi. 10.3390/biomedicines9010075
By:
- Imbrici, Paola;
- Accogli, Andrea;
- Blunck, Rikard;
- Altamura, Concetta;
- Iacomino, Michele;
- D'Adamo, Maria Cristina;
- Allegri, Anna;
- Pedemonte, Marina;
- Brolatti, Noemi;
- Vari, Stella;
- Cataldi, Matteo;
- Capra, Valeria;
- Gustincich, Stefano;
- Zara, Federico;
- Desaphy, Jean-Francois;
- Fiorillo, Chiara
Publication type:
Article
Anterior chest wall deformities in children with neurofibromatosis type 1.
Published in:
Acta Paediatrica, 2021, v. 110, n. 2, p. 594, doi. 10.1111/apa.15529
By:
- Chelleri, Cristina;
- Guerriero, Vittorio;
- Torre, Michele;
- Brolatti, Noemi;
- Piccolo, Gianluca;
- Mattioli, Girolamo;
- Boero, Silvio;
- Minetti, Carlo;
- Diana, Maria Cristina
Publication type:
Article

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