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Anna Rubegni
161
results:
Search for persons
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Online (161)
Mediatypes
Articles (Online) (65)
Bookchapter (Online) (2)
OpenAccess-fulltext (94)
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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
Congenital Myopathy as a Phenotypic Expression of CACNA1S G..:
Marinella, Gemma
;
Orsini, Alessandro
;
Scacciati, Massimo
...
Genes. 14 (2023) 7 - p. 1363 , 2023
Link:
https://doi.org/10.3390/..
?
3
Additive effect of DNAJC30 and NDUFA9 mutations causing Lei..:
Nesti, Claudia
;
Ticci, Chiara
;
Rubegni, Anna
...
Journal of Neurology. , 2023
Link:
https://doi.org/10.1007/..
?
4
Novel COX11 Mutations Associated with Mitochondrial Disorde..:
Caron-Godon, Chenelle A.
;
Della Vecchia, Stefania
;
Romano, Alessandro
...
International Journal of Molecular Sciences. 24 (2023) 23 - p. 16636 , 2023
Link:
https://doi.org/10.3390/..
?
5
InGene 2.0: a step towards the ICT-based diagnosis and moni..:
, In:
2023 Zooming Innovation in Consumer Technologies Conference (ZINC)
,
Sansone, Francesco
;
Tonacci, Alessandro
;
Astrea, Guja
... - p. 74-76 , 2023
Link:
https://doi.org/10.1109/..
?
6
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/..
?
7
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy..:
Baldacci, Jacopo
;
Calderisi, Marco
;
Fiorillo, Chiara
..
Healthcare. 10 (2022) 3 - p. 574 , 2022
Link:
https://doi.org/10.3390/..
?
8
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/..
?
9
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/..
?
10
Bi‐allelic variants in MDH2: Expanding the clinical phenoty..:
Ticci, Chiara
;
Nesti, Claudia
;
Rubegni, Anna
...
Clinical Genetics. 101 (2021) 2 - p. 260-264 , 2021
Link:
https://doi.org/10.1111/..
?
11
The Diagnostic Approach to Mitochondrial Disorders in Child..:
Tolomeo, Deborah
;
Orsucci, Daniele
;
Nesti, Claudia
...
Journal of Clinical Medicine. 10 (2021) 15 - p. 3222 , 2021
Link:
https://doi.org/10.3390/..
?
12
NGS in Hereditary Ataxia: When Rare Becomes Frequent:
Galatolo, Daniele
;
De Michele, Giovanna
;
Silvestri, Gabriella
...
International Journal of Molecular Sciences. 22 (2021) 16 - p. 8490 , 2021
Link:
https://doi.org/10.3390/..
?
13
Movement Disorders in Children with a Mitochondrial Disease..:
Ticci, Chiara
;
Orsucci, Daniele
;
Ardissone, Anna
...
Journal of Clinical Medicine. 10 (2021) 10 - p. 2063 , 2021
Link:
https://doi.org/10.3390/..
?
14
Phenotypic Definition and Genotype-Phenotype Correlates in ..:
Serpieri, Valentina
;
Biagini, Tommaso
;
Mazzotta, Concetta
...
Applied Sciences. 11 (2021) 2 - p. 748 , 2021
Link:
https://doi.org/10.3390/..
?
15
Expanding the clinical and genetic spectrum of pathogenic v..:
Ticci, Chiara
;
Cassandrini, Denise
;
Rubegni, Anna
...
Muscle & Nerve. 64 (2021) 5 - p. 567-575 , 2021
Link:
https://doi.org/10.1002/..
1-15