E-LIB Suche - Ergebnisse für: Lopergolo, Diego

1

Oculomotor features in SCA27B patients:

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

2

FOXG1 variants can be associated with milder phenotypes tha..:

Mazel, Benoit ; Delanne, Julian ; Garde, Aurore...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. , 2024

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

3

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD):

Aguti, Sara ; Gallus, Gian Nicola ; Bianchi, Silvia...
Cells. 13 (2024) 4 - p. 329 , 2024

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

4

Autosomal recessive cerebellar ataxias: a diagnostic classi..:

Lopergolo, Diego ; Rosini, Francesca ; Pretegiani, Elena...
Frontiers in Integrative Neuroscience. 17 (2024) - p. , 2024

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

5

CUL4B-associated epilepsy: Report of a novel truncating var..:

Della Vecchia, Stefania ; Lopergolo, Diego ; Trovato, Rosanna...
Seizure: European Journal of Epilepsy. 104 (2023) - p. 32-37 , 2023

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

6

Correction to: Monoallelic KIF1A-related disorders: a multi..:

Della Vecchia, Stefania ; Tessa, Alessandra ; Dosi, Claudia...
Journal of Neurology. 270 (2023) 4 - p. 2345-2346 , 2023

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

7

Natural Course of IQSEC2-Related Encephalopathy: An Italian..:

Leoncini, Silvia ; Boasiako, Lidia ; Lopergolo, Diego...
Children. 10 (2023) 9 - p. 1442 , 2023

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

8

Using Cluster Analysis to Overcome the Limits of Traditiona..:

Dosi, Claudia ; Rubegni, Anna ; Baldacci, Jacopo...
Genes. 14 (2023) 2 - p. 298 , 2023

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

9

Early-onset motor polyneuropathy associated with a novel do..:

Lopergolo, Diego ; Salvatore, Simona ; Sorrentino, Vincenzo...
Neurological Sciences. 44 (2023) 4 - p. 1415-1418 , 2023

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

10

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

Fortunato, Fernanda ; Bianchi, Francesca ; Ricci, Giulia...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

11

Different epilepsy course of a novel AHDC1 mutation in a fe..:

Salvati, Andrea ; Biagioni, Tommaso ; Ferrari, Anna Rita...
Seizure: European Journal of Epilepsy. 99 (2022) - p. 127-130 , 2022

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

12

The microRNA processorDROSHAis a candidate gene for a sever..:

Barish, Scott ; Senturk, Mumine ; Schoch, Kelly...
Human Molecular Genetics. 31 (2022) 17 - p. 2934-2950 , 2022

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

13

A Schematic Approach to Defining the Prevalence of COL VI V..:

Marinella, Gemma ; Astrea, Guja ; Buchignani, Bianca...
International Journal of Molecular Sciences. 23 (2022) 23 - p. 14567 , 2022

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

14

Novel biomarkers for limb girdle muscular dystrophy (LGMD) ..:

Lopergolo, Diego ; Gallus, Gian Nicola ; Aguti, Sara...
Neurology. 98 (2022) 18_supplement - p. , 2022

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

15

Natural history of KBG syndrome in a large European cohort:

Loberti, Lorenzo ; Bruno, Lucia Pia ; Granata, Stefania...
Human Molecular Genetics. 31 (2022) 24 - p. 4131-4142 , 2022

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