E-LIB Suche - Ergebnisse für: Olimpia Musumeci

1

Deoxyguanosine kinase deficiency: natural history and liver..:

Manzoni, Eleonora ; Carli, Sara ; Gaignard, Pauline...
Brain Communications. 6 (2024) 3 - p. , 2024

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

2

Oculomotor features in SCA27B patients:

Lopergolo, Diego ; Bargagli, Alessia ; Satolli, Sara...
Clinical Neurophysiology. 158 (2024) - p. 56-58 , 2024

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

3

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 va..:

Cioffi, Ettore ; Coppola, Gianluca ; Musumeci, Olimpia...
Neurogenetics. 25 (2024) 2 - p. 51-67 , 2024

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

4

Spinocerebellar ataxia 27B: a frequent and slowly progressi..:

Satolli, Sara ; Rossi, Salvatore ; Vegezzi, Elisa...
Journal of Neurology. , 2024

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

5

Assessment of Parental Needs and Quality of Life in Childre..:

Benedetto, Loredana ; Musumeci, Olimpia ; Giordano, Annunziata..
Behavioral Sciences. 13 (2023) 12 - p. 956 , 2023

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

6

Safety outcomes and patients' preferences for home-based in..:

Toscano, Antonio ; Musumeci, Olimpia ; Sacchini, Michele...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

7

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/..

8

Pharmacotherapy of the Lipid-Lowering Drugs: Update on Effi..:

Pierno, Sabata ; Musumeci, Olimpia
International Journal of Molecular Sciences. 24 (2023) 2 - p. 996 , 2023

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

9

Paraneoplastic neurological syndromes of the central nervou..:

Giammello, Fabrizio ; Galletta, Karol ; Grillo, Francesco...
Acta Neurologica Belgica. 123 (2023) 4 - p. 1355-1369 , 2023

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

10

Data from the European registry for patients with McArdle d..:

Karazi, Walaa ; Scalco, Renata S. ; Stemmerik, Mads G....
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

11

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/..

12

Muscle MRI in McArdle Disease: A European Multicenter Obser..:

Løkken, Nicoline ; Revsbech, Karoline Lolk ; Jacobsen, Laura Nørager...
Neurology. 99 (2022) 15 - p. , 2022

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

13

Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel M..:

Manini, Arianna ; Meneri, Megi ; Rodolico, Carmelo...
Frontiers in Neurology. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

14

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/..

15

Multicenter, non-interventional, double cohort study to ass..:

Toscano, Antonio ; Scarpa, Maurizio ; Parini, Rossella...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S120 , 2022

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