E-LIB Suche - Ergebnisse für: Semplicini, Claudio

1

ExoBand, A Passive Wearable Device as a Walking Aid in Neur..:

Semplicini, Claudio ; Agostini, Michela ; Andrigo, Cinzia...
Journal of Neuromuscular Diseases. 11 (2024) 4 - p. 877-881 , 2024

Link: https://doi.org/10.3233/..

2

Distribution of Exonic Variants in Glycogen Synthesis and C..:

De Filippi, Paola ; Errichiello, Edoardo ; Toscano, Antonio...
Current Issues in Molecular Biology. 45 (2023) 4 - p. 2847-2860 , 2023

Link: https://doi.org/10.3390/..

3

Lack of COL6/collagen VI causes megakaryocyte dysfunction b..:

Abbonante, Vittorio ; Malara, Alessandro ; Chrisam, Martina...
Autophagy. 19 (2022) 3 - p. 984-999 , 2022

Link: https://doi.org/10.1080/..

4

Collagen VI deficiency causes behavioral abnormalities and ..:

Gregorio, Ilaria ; Mereu, Maddalena ; Contarini, Gabriella...
Disease Models & Mechanisms. 15 (2022) 9 - p. , 2022

Link: https://doi.org/10.1242/..

5

Ablation of collagen VI leads to the release of platelets w..:

Abbonante, Vittorio ; Gruppi, Cristian ; Battiston, Monica...
Blood Advances. 5 (2021) 23 - p. 5150-5163 , 2021

Link: https://doi.org/10.1182/..

6

New genotype-phenotype correlations in a large European coh..:

Alonso-Pérez, Jorge ; González-Quereda, Lidia ; Bello, Luca...
Brain. 143 (2020) 9 - p. 2696-2708 , 2020

Link: https://doi.org/10.1093/..

7

Long‐term benefit of enzyme replacement therapy with algluc..:

Semplicini, Claudio ; De Antonio, Marie ; Taouagh, Nadjib...
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1219-1231 , 2020

Link: https://doi.org/10.1002/..

8

Assessing the Role of Anti rh-GAA in Modulating Response to..:

Filosto, Massimiliano ; Cotti Piccinelli, Stefano ; Ravaglia, Sabrina...
Advances in Therapy. 36 (2019) 5 - p. 1177-1189 , 2019

Link: https://doi.org/10.1007/..

9

European muscle MRI study in limb girdle muscular dystrophy..:

Barp, Andrea ; Laforet, Pascal ; Bello, Luca...
Journal of Neurology. 267 (2019) 1 - p. 45-56 , 2019

Link: https://doi.org/10.1007/..

10

Late‐onset Pompe disease in France: molecular features and ..:

Semplicini, Claudio ; Letard, Pascaline ; De Antonio, Marie...
Journal of Inherited Metabolic Disease. 41 (2018) 6 - p. 937-946 , 2018

Link: https://doi.org/10.1007/..

11

Targeted gene panel screening is an effective tool to ident..:

Savarese, Marco ; Torella, Annalaura ; Musumeci, Olimpia...
Neuromuscular Disorders. 28 (2018) 7 - p. 586-591 , 2018

Link: https://doi.org/10.1016/..

12

233rd ENMC International Workshop:

Lostal, William ; Urtizberea, J. Andoni ; Richard, Isabelle...
Neuromuscular Disorders. 28 (2018) 6 - p. 540-549 , 2018

Link: https://doi.org/10.1016/..

13

The clinical spectrum ofCASQ1-related myopathy:

Semplicini, Claudio ; Bertolin, Cinzia ; Bello, Luca...
Neurology. 91 (2018) 17 - p. , 2018

Link: https://doi.org/10.1212/..

14

The role of electrodiagnosis with long exercise test in mca..:

Semplicini, Claudio ; Hézode‐arzel, Marianne ; Laforêt, Pascal...
Muscle & Nerve. 58 (2018) 1 - p. 64-71 , 2018

Link: https://doi.org/10.1002/..

15

SPP1 genotype and glucocorticoid treatment modify osteopont..:

Vianello, Sara ; Pantic, Boris ; Fusto, Aurora...
Human Molecular Genetics. 26 (2017) 17 - p. 3342-3351 , 2017

Link: https://doi.org/10.1093/..