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Lopergolo, Diego
30
results:
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1
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/..
?
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
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/..
?
4
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/..
?
5
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/..
?
6
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/..
?
7
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/..
?
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
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/..
?
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
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/..
?
12
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/..
?
13
A case of spastic paraplegia type 11 mimicking a GM2-gangli..:
Lopergolo, Diego
;
Berti, Gianna
;
Mari, Francesca
...
Neurological Sciences. 43 (2022) 4 - p. 2849-2852 , 2022
Link:
https://doi.org/10.1007/..
?
14
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/..
?
15
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/..
1-15