E-LIB Suche - Ergebnisse für: Pugliese, Alessia

1

Presynaptic Congenital Myasthenic Syndromes: Understanding ..:

Pugliese, Alessia ; Holland, Stephen H. ; Rodolico, Carmelo..
Journal of Neuromuscular Diseases. 10 (2023) 5 - p. 731-759 , 2023

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

2

Mutations in PTPN11 could lead to a congenital myasthenic s..:

Pugliese, Alessia ; Della Marina, Adela ; de Paula Estephan, Eduardo...
Journal of Neurology. 271 (2023) 3 - p. 1331-1341 , 2023

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

3

A new phenotype of muscle glycogen synthase deficiency (GSD..:

Musumeci, Olimpia ; Pugliese, Alessia ; Oteri, Rosaria...
Neuromuscular Disorders. 32 (2022) 7 - p. 582-589 , 2022

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

4

Molecular Genetics Overview of Primary Mitochondrial Myopat..:

Arena, Ignazio Giuseppe ; Pugliese, Alessia ; Volta, Sara..
Journal of Clinical Medicine. 11 (2022) 3 - p. 632 , 2022

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

5

STIG study: real-world data of long-term outcomes of adults..:

Gutschmidt, Kristina ; Musumeci, Olimpia ; Díaz-Manera, Jordi...
Journal of Neurology. 268 (2021) 7 - p. 2482-2492 , 2021

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

6

Electromyographic findings in patients with late-onset pomp..:

Musumeci, Olimpia ; Terranova, Carmen ; Pugliese, Alessia...
Journal of the Neurological Sciences. 429 (2021) - p. 119360 , 2021

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

7

Liver transplantation in mitochondrial neurogastrointestina..:

D'Angelo, Roberto ; Boschetti, Elisa ; Amore, Giulia...
Journal of Neurology. 267 (2020) 12 - p. 3702-3710 , 2020

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

8

Mitochondrial neurogastrointestinal encephalomyopathy (MNGI..:

Hirano, Michio ; Carelli, Valerio ; De Giorgio, Roberto...
Journal of Inherited Metabolic Disease. 44 (2020) 2 - p. 376-387 , 2020

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

9

Presynaptic congenital myasthenic syndromes: understanding ..:

Pugliese, Alessia ; Holland, Stephen H ; Rodolico, Carmelo..
https://freidok.uni-freiburg.de/data/236659. , 2023

Link: https://freidok.uni-frei..

10

Digital health and Clinical Patient Management System (CPMS..:

Fortunato, Fernanda ; Bianchi, Francesca ; Ricci, Giulia...
info:eu-repo/semantics/altIdentifier/pmid/37480080. , 2023

Link: https://hdl.handle.net/1..

11

Digital health and Clinical Patient Management System (CPMS..:

Fortunato, Fernanda ; Bianchi, Francesca ; Ricci, Giulia...
info:eu-repo/semantics/altIdentifier/pmid/37480080. , 2023

Link: https://hdl.handle.net/2..

12

STIG study: real-world data of long-term outcomes of adults..:

Gutschmidt, Kristina ; Musumeci, Olimpia ; Díaz-Manera, Jordi...
https://repository.publisso.de/resource/frl:6450290. , 2021

Link: https://repository.publi..

13

Endocrine myopathies: clinical and histopathological featur..:

Rodolico, Carmelo ; Bonanno, Carmen ; Pugliese, Alessia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711326/. , 2020

Link: http://www.ncbi.nlm.nih...

14

Digital health and Clinical Patient Management System (CPMS..:

Fernanda Fortunato ; Francesca Bianchi ; Giulia Ricci...
https://doi.org/10.1186/s13023-023-02776-5. , 2023

Link: https://doi.org/10.1186/..

15

Molecular Genetics Overview of Primary Mitochondrial Myopat..:

Ignazio Giuseppe Arena ; Alessia Pugliese ; Sara Volta..
https://www.mdpi.com/2077-0383/11/3/632. , 2022

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