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Author/Creator Bertini, E.

1. A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1" written by pechmann and colleagues". (July 2018)

Authors:
Sansone, V.A.; Pane, M.; Messina, S.; Bruno, C.; D'Amico, A.; Albamonte, E.; Catteruccia, M.; Sframeli, M.; Pedemonte, M.; Vita, G.; Bertini, E.; Mercuri, E.; Leone, Daniela; de Sanctis, Roberto; Forcina, Nicola; Piastra, Marco; Genovese, Orazio; Pedicelli, Alessandro; Versaci, Antonio; Rulli, Imma
Journal:
European journal of paediatric neurology
Issue:
Volume 22:Number 4(2018:Jul.)
Page Start:
729
Record Type:
Journal Article
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2. A clinical diagnostic algorithm for early onset cerebellar ataxia. (September 2019)

Authors:
Brandsma, R.; Verschuuren-Bemelmans, C.C.; Amrom, D.; Barisic, N.; Baxter, P.; Bertini, E.; Blumkin, L.; Brankovic-Sreckovic, V.; Brouwer, O.F.; Bürk, K.; Catsman-Berrevoets, C.E.; Craiu, D.; de Coo, I.F.M.; Gburek, J.; Kennedy, C.; de Koning, T.J.; Kremer, H.P.H.; Kumar, R.; Macaya, A.; Micalizz...
Journal:
European journal of paediatric neurology
Issue:
Volume 23:Number 5(2019:Sep.)
Page Start:
692
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. A novel gain‐of‐function mutation in ORAI1 causes late‐onset tubular aggregate myopathy and congenital miosis. Issue 5 (23rd November 2016)

Authors:
Garibaldi, M.; Fattori, F.; Riva, B.; Labasse, C.; Brochier, G.; Ottaviani, P.; Sacconi, S.; Vizzaccaro, E.; Laschena, F.; Romero, N.B.; Genazzani, A.; Bertini, E.; Antonini, G.
Journal:
Clinical genetics
Issue:
Volume 91:Issue 5(2017)
Page Start:
780
Record Type:
Journal Article
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4. A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Issue 3 (25th May 2016)

Authors:
Torraco, A.; Bianchi, M.; Verrigni, D.; Gelmetti, V.; Riley, L.; Niceta, M.; Martinelli, D.; Montanari, A.; Guo, Y.; Rizza, T.; Diodato, D.; Di Nottia, M.; Lucarelli, B.; Sorrentino, F.; Piemonte, F.; Francisci, S.; Tartaglia, M.; Valente, E.M.; Dionisi‐Vici, C.; Christodoulou, J.
Journal:
Clinical genetics
Issue:
Volume 91:Issue 3(2017)
Page Start:
441
Record Type:
Journal Article
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5. Clinical and radiological profile of patients with spinal muscular atrophy type 4. (12th November 2020)

Authors:
Souza, P. V. S.; Pinto, W. B. V. R.; Ricarte, A.; Badia, B. M. L.; Seneor, D. D.; Teixeira, D. T.; Caetano, L.; Gonçalves, E. A.; Chieia, M. A. T.; Farias, I. B.; Bertini, E.; Oliveira, A. S. B.
Journal:
European journal of neurology
Issue:
Volume 28:Number 2(2021)
Page Start:
609
Record Type:
Journal Article
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7. DJ‐1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7. Issue 1 (6th October 2016)

Authors:
Di Nottia, M.; Masciullo, M.; Verrigni, D.; Petrillo, S.; Modoni, A.; Rizzo, V.; Di Giuda, D.; Rizza, T.; Niceta, M.; Torraco, A.; Bianchi, M.; Santoro, M.; Bentivoglio, A.R.; Bertini, E.; Piemonte, F.; Carrozzo, R.; Silvestri, G.
Journal:
Clinical genetics
Issue:
Volume 92:Issue 1(2017)
Page Start:
18
Record Type:
Journal Article
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9. Expanding the histopathological spectrum of CFL2‐related myopathies. Issue 6 (25th March 2018)

Authors:
Fattori, F.; Fiorillo, C.; Rodolico, C.; Tasca, G.; Verardo, M.; Bellacchio, E.; Pizzi, S.; Ciolfi, A.; Fagiolari, G.; Lupica, A.; Broda, P.; Pedemonte, M.; Moggio, M.; Bruno, C.; Tartaglia, M.; Bertini, E.; D'Amico, A.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 6(2018)
Page Start:
1234
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗