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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”

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, Forc

Journal:

European Journal of Paediatric Neurology

Year:

2018

File:

PDF, 570 KB

2018

2

Nusinersen in type 1 Spinal Muscular Atrophy: 12-month real world data

Pane, Marika, Coratti, Giorgia, Sansone, Valeria A, Messina, Sonia, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Bravetti, Chiara, Berti

Journal:

Annals of Neurology

Year:

2019

File:

PDF, 529 KB

2019

3

Orbital diseases mimicking graves’ orbitopathy: a long-standing challenge in differential diagnosis

Marinò, M., Ionni, I., Lanzolla, G., Sframeli, A., Latrofa, F., Rocchi, R., Marcocci, C.

Journal:

Journal of Endocrinological Investigation

Year:

2019

Language:

english

File:

PDF, 1.14 MB

english, 2019

4

Use of low-dose radioiodine ablation for Graves’ orbitopathy: results of a pilot, perspective study in a small series of patients

Leo, M., Sabini, E., Ionni, I., Sframeli, A., Mazzi, B., Menconi, F., Molinaro, E., Bianchi, F., Brozzi, F., Santini, P., Elisei, R., Nardi, M., Vitti, P., Marcocci, C., Marinò, M.

Journal:

Journal of Endocrinological Investigation

Year:

2017

Language:

english

File:

PDF, 529 KB

english, 2017

5

Autonomic nervous system involvement in spinal muscular atrophy type 1, 2 and 3

Messina, S., Sframeli, M., Vita, G., Stancanelli, C., Terranova, C., Rizzo, E., Cavallaro, F., Girlanda, P., Vita, G.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 255 KB

english, 2017

6

Modulation of neuronal nitric oxide synthase and apoptosis by the isoflavone genistein in Mdx mice

Messina, Sonia, Bitto, Alessandra, Vita, Gian Luca, Aguennouz, M'hammed, Irrera, Natasha, Licata, Norma, Sframeli, Maria, Bruschetta, Daniele, Minutoli, Letteria, Altavilla, Domenica, Vita, Giuseppe,

Journal:

Year:

2015

Language:

english

File:

PDF, 326 KB

english, 2015

7

Sometimes they come back: new and old SMA adults in the era of nusinersen

Sansone, Valeria A, Coratti, Giorgia, Pera, Maria Carmela, Pane, Marika, Messina, Sonia, Salmin, Francesca, Albamonte, Emilio, De Sanctis, Roberto, Sframeli, Maria, Di Bella, Vincenzo, Morando, Simone

Journal:

European Journal of Neurology

Year:

2020

File:

PDF, 7.53 MB

2020

8

A case of drug-induced Graves’ Orbitopathy after combination therapy with Tremelimumab and Durvalumab

Sabini, E., Sframeli, A., Marinò, M.

Journal:

Journal of Endocrinological Investigation

Year:

2018

Language:

english

File:

PDF, 522 KB

english, 2018

9

Water permeability and microstructure of three old concretes

Nataliya Hearn, Rachel J. Detwiler, Carmen Sframeli

Journal:

Cement and Concrete Research

Year:

1994

Language:

english

File:

PDF, 501 KB

english, 1994

10

Trabeculectomy vs. EX-PRESS shunt vs. Ahmed valve implant: short-term effects on corneal endothelial cells

G. Casini, P. Loiudice, M. Pellegrini, A. T. Sframeli, P. Martinelli, A. Passani, M. Nardi

Year:

2015

Language:

english

File:

PDF, 327 KB

english, 2015

11

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

Messina, Sonia, Sframeli, Maria

Journal:

Journal of Clinical Medicine

Year:

2020

File:

PDF, 598 KB

2020

12

Relationship between serum cholesterol and Graves’ orbitopathy (GO): a confirmatory study

Lanzolla, G., Sabini, E., Profilo, M. A., Mazzi, B., Sframeli, A., Rocchi, R., Menconi, F., Leo, M., Nardi, M., Vitti, P., Marcocci, C., Marinò, M.

Journal:

Journal of Endocrinological Investigation

Year:

2018

Language:

english

File:

PDF, 725 KB

english, 2018

13

Health-related quality of life and functional changes in DMD: a 12-month longitudinal cohort study

Messina, Sonia, Vita, Gian Luca, Sframeli, Maria, Mondello, Stefania, Mazzone, Elena, D'Amico, Adele, Berardinelli, Angela, La Rosa, Matteo, Bruno, Claudio, Distefano, Maria Grazia, Baranello, Giovann

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 749 KB

english, 2016

14

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy

Pera, Maria C., Coratti, Giorgia, Forcina, Nicola, Mazzone, Elena S., Scoto, Mariacristina, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Messina, Sonia, Sframeli, Maria, Main, Marion, Lofra, Robe

Journal:

Year:

2017

Language:

english

File:

PDF, 856 KB

english, 2017

15

Cardiac involvement in a patient with congenital muscular dystrophy related to POMT2 gene mutation

Sframeli, M., La Rosa, M., Distefano, M., Barcellona, C., Vita, G., Nicocia, G., Astrea, G., D'Amico, A., Bertini, E., Santorelli, F., Vita, G., Messina, S.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 242 KB

english, 2017

16

Nusinersen in type 1 SMA infants, children and young adults: preliminary results on motor function

Pane, Marika, Palermo, Concetta, Messina, Sonia, Sansone, Valeria A, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Brigati, Giorgia, de S

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 1015 KB

2018

17

P17 Whole exome sequencing in patients with congenital myopathies

Zaharieva, I., Colombo, I., Sframeli, M., Sigurdsson, J.H., Feng, L., Phadke, R., Sewry, C.A., Morgan, J.E., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 52 KB

english, 2014

18

Eight novel UK families further expand current knowledge on GMPPB-gene related dystroglycanopathies

Sarkozy, A., Torelli, S., Barresi, R., Bertoli, M., Sframeli, M., Mein, R., Yau, M., Sewry, C., Phadke, R., Feng, L., Ala, P., Manzur, A., Bushby, K., Lochmüller, H., Willis, T., Norwood, F., Rakowicz

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 228 KB

english, 2015

19

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period

Sframeli, Maria, Sarkozy, Anna, Bertoli, Marta, Astrea, Guja, Hudson, Judith, Scoto, Mariacristina, Mein, Rachael, Yau, Michael, Phadke, Rahul, Feng, Lucy, Sewry, Caroline, Fen, Adeline Ngoh Seow, Lon

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 856 KB

english, 2017

20

Congenital muscular dystrophies in the UK population: Update of clinical and molecular spectrum of patients diagnosed over a 12-year period

Sframeli, M., Sarkozy, A., Bertoli, M., Astrea, G., Hudson, J., Scoto, M., Mein, R., Yau, M., Phadke, R., Feng, L., Sewry, C., Robb, S., Manzur, A., Messina, S., Bushby, K., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 219 KB

english, 2015

21

Serum antibodies against the insulin-like growth factor-1 receptor (IGF-1R) in Graves’ disease and Graves’ orbitopathy

Marinò, M., Rotondo Dottore, G., Ionni, I., Lanzolla, G., Sabini, E., Ricci, D., Sframeli, A., Mazzi, B., Menconi, F., Latrofa, F., Vitti, P., Marcocci, C., Chiovato, L.

Journal:

Journal of Endocrinological Investigation

Year:

2018

Language:

english

File:

PDF, 914 KB

english, 2018

22

Psychosocial impact of sport activity in neuromuscular disorders

Vita, Gian Luca, Stancanelli, Claudia, La Foresta, Stefania, Faraone, Cristina, Sframeli, Maria, Ferrero, Amanda, Fattore, Cinzia, Galbo, Rosy, Ferraro, Manfredi, Ricci, Giulia, Cotti Piccinelli, Stef

Journal:

Neurological Sciences

Year:

2020

File:

PDF, 223 KB

2020

23

SCREENING FOR EARLY SYMPTOMS OF RESPIRATORY INVOLVEMENT IN MYOTONIC DYSTROPHY TYPE 1 USING THE RESPICHECK QUESTIONNAIRE

De Mattia, Elisa, Lizio, Andrea, Falcier, Elisa, SannicolÃ², Giulia, Gualandris, Marco, Rossi, Gabriella, Zanolini, Alice, Pozzi, Susanna, Messina, Sonia, Sframeli, Maria, Lunetta, Christian, Rao, Fab

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 1.49 MB

2020

24

G.P.261

Zaharieva, I.T., Colombo, I., Sframeli, M., Sigurðsson, J.H., Feng, L., Phadke, R., Sewry, C.A., Morgan, J.E., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 46 KB

english, 2014

25

Late spontaneous resolution of a double anterior chamber post deep anterior lamellar keratoplasty

Passani, Andrea, Sframeli, Angela Tindara, Loiudice, Pasquale, Nardi, Marco

Journal:

Saudi Journal of Ophthalmology

Year:

2017

Language:

english

File:

PDF, 471 KB

english, 2017

26

Putative protective role of autoantibodies against the insulin-like growth factor-1 receptor in Gravesâ Disease: results of a pilot study

Lanzolla, G., Ricci, D., NicolÃ¬, F., Sabini, E., Sframeli, A., Brancatella, A., Mantuano, M., Dottore, G. R., Bucci, I., Figus, M., Nardi, M., Latrofa, F., Marcocci, C., MarinÃ², M.

Journal:

Journal of Endocrinological Investigation

Year:

2020

File:

PDF, 621 KB

2020

27

Correlation between serum anti-TSH receptor autoantibodies (TRAbs) and the clinical feature of Gravesâ orbitopathy

NicolÃ¬, F., Lanzolla, G., Mantuano, M., Ionni, I., Mazzi, B., Leo, M., Sframeli, A., Posarelli, C., Maglionico, M. N., Figus, M., Nardi, M., Marcocci, C., MarinÃ², M.

Journal:

Journal of Endocrinological Investigation

Year:

2020

File:

PDF, 546 KB

2020

28

The Supraciliary Space as a Suitable Pathway for Glaucoma Surgery: Ho-hum or Home Run?

Figus, Michele, Posarelli, Chiara, Passani, Andrea, Albert, Timothy G., Oddone, Francesco, Sframeli, Angela Tindara, Nardi, Marco

Journal:

Survey of Ophthalmology

Year:

2017

Language:

english

File:

PDF, 391 KB

english, 2017

29

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

Pera, Maria Carmela, Coratti, Giorgia, Berti, Beatrice, DâAmico, Adele, Sframeli, Maria, Albamonte, Emilio, de Sanctis, Roberto, Messina, Sonia, Catteruccia, Michela, Brigati, Giorgia, Antonaci, Lau

Journal:

Year:

2020

File:

PDF, 573 KB

2020

30

P60 Shared defective glycosylation pathways link congenital myasthenic syndromes with the dystroglycanopathies

Stevens, E., Rivas, E., Belaya, K., Sframeli, M., Maxwell, S., Torelli, S., Martin, P., Cossins, J., Beeson, D., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 51 KB

english, 2014

31

Association of T and B Cells Infiltrating Orbital Tissues With Clinical Features of Graves Orbitopathy

Rotondo Dottore, Giovanna, Torregrossa, Liborio, Caturegli, Patrizio, Ionni, Ilaria, Sframeli, Angela, Sabini, Elena, Menconi, Francesca, Piaggi, Paolo, Sellari-Franceschini, Stefano, Nardi, Marco, La

Journal:

JAMA Ophthalmology

Year:

2018

Language:

english

File:

PDF, 696 KB

english, 2018

32

Editorial Board

Stevens, E., Rivas, E., Belaya, K., Sframeli, M., Maxwell, S., Torelli, S., Martin, P., Cossins, J., Beeson, D., Muntoni, F.

Journal:

Annales Françaises d'Anesthésie et de Réanimation

Year:

1985

File:

PDF, 53 KB

1985

33

Reply

Casini, Giamberto, Loiudice, Pasquale, Pellegrini, Marco, Sframeli, Angela Tindara, Martinelli, Paolo, Passani, Andrea, Nardi, Marco

Journal:

American Journal of Ophthalmology

Year:

2016

Language:

english

File:

PDF, 48 KB

english, 2016

34

Insights into bone mineral density and bone metabolism in Duchenne muscular dystrophy

Sframeli, M., Vita, G., Catalano, A., Distefano, M., La Rosa, M., Barcellona, C., Bonanno, C., Nicocia, G., Profazio, C., Morabito, N., Lunetta, C., Vita, G., Messina, S.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 234 KB

english, 2017

35

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Zaharieva, Irina T., Thor, Michael G., Oates, Emily C., van Karnebeek, Clara, Hendson, Glenda, Blom, Eveline, Witting, Nanna, Rasmussen, Magnhild, Gabbett, Michael T., Ravenscroft, Gianina, Sframeli,

Journal:

Year:

2016

Language:

english

File:

PDF, 1.47 MB

english, 2016

36

An observational study of functional abilities in infants, children, and adults with type 1 SMA

Pane, Marika, Palermo, Concetta, Messina, Sonia, Sansone, Valeria A., Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Brigati, Giorgia, de

Journal:

Year:

2018

Language:

english

File:

PDF, 506 KB

english, 2018

37

G.P.207

Sframeli, M., Sarkozy, A., Astrea, G., Scoto, M., Feng, L., Mein, R., Yau, M., Phadke, R., Sewry, C., Messina, S., Robb, S., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 52 KB

english, 2014

38

Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center

La Foresta, Stefania, Faraone, Cristina, Sframeli, Maria, Vita, Gian Luca, Russo, Massimo, Profazio, Claudia, Rulli, Immacolata, Gitto, Eloisa, Versaci, Antonio, Messina, Sonia, Vita, Giuseppe

Journal:

Neurological Sciences

Year:

2018

Language:

english

File:

PDF, 512 KB

english, 2018

39

G.P.314

Sframeli, M., Sarkozy, A., Longman, C., Feng, L., Robb, S., Manzur, A.Y., Mein, R., Yau, M., Barresi, R., Phadke, R., Sewry, C., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 44 KB

english, 2014

40

Macular spectral-domain optical coherence tomography values and correlations in healthy children

Passani, Andrea, Sframeli, Angela Tindara, Posarelli, Chiara, Lisi, Domenico, Guidi, Gianluca, Casini, Giamberto, Ferreras, Antonio, Figus, Michele

Journal:

International Ophthalmology

Year:

2019

File:

PDF, 819 KB

2019

41

Which are the factors influencing NIV adaptation and tolerance in ALS patients?

Russo, Massimo, Bonanno, Carmen, Profazio, Claudia, La Foresta, Stefania, Faraone, Cristina, Lizio, Andrea, Vita, Gian Luca, Sframeli, Maria, AricÃ², Irene, Ruggeri, Paolo, Toscano, Antonio, Vita, Giu

Journal:

Neurological Sciences

Year:

2020

File:

PDF, 263 KB

2020

42

T.P.52 Pilot study of flavocoxid in ambulant DMD patients

Messina, S., Vita, G.L., Sframeli, M., Licata, N., Cama, A., Ciranni, A., Romeo, S., Aguennouz, M., Vita, G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

43

G.P.100

Messina, S., Vita, G.L., Licata, N., Sframeli, M., Bitto, A., Distefano, M.G., Barcellona, C., Rosa, M. La, Romeo, S., Ciranni, A., Aguennouz, M., Squadrito, F., Vita, G.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 46 KB

english, 2014

44

Retinal, choroidal and optic disc analysis in patients with Gravesâ disease with or without orbitopathy

Casini, Giamberto, MarinÃ², Michele, Rubino, Marisa, Licari, Serena, Covello, Giuseppe, Mazzi, Barbara, Ionni, Ilaria, Rocchi, Roberto, Sframeli, Angela Tindara, Figus, Michele, Loiudice, Pasquale

Journal:

International Ophthalmology

Year:

2020

File:

PDF, 638 KB

2020

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