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Salviati, Leonardo
354
results:
Search for persons
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Format
Online (354)
Mediatypes
E-Books (1)
Articles (Online) (151)
Bookchapter (Online) (3)
OpenAccess-fulltext (199)
Languages
english (312)
italian (17)
Sorted by: Year
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1
Correction: Human frataxin, the Friedreich ataxia deficient..:
Doni, Davide
;
Cavion, Federica
;
Bortolus, Marco
...
Cell Death & Disease. 15 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
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2
Genetic mutations in Parkinson's disease: screening of a se..:
Bonato, Giulia
;
Antonini, Angelo
;
Pistonesi, Francesca
...
Neurological Sciences. , 2024
Link:
https://doi.org/10.1007/..
?
3
TP53 DNA binding domain mutational status and rituximab-bas..:
Martire, Gaia
;
Lovisa, Federica
;
Carraro, Elisa
...
Haematologica. , 2024
Link:
https://doi.org/10.3324/..
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4
Multiple colorectal adenomas syndrome: The role of MUTYH mu..:
Negro, Silvia
;
Bao, Quoc Riccardo
;
Scarpa, Marco
...
Digestive and Liver Disease. 56 (2024) 6 - p. 1087-1094 , 2024
Link:
https://doi.org/10.1016/..
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5
COQ4 is required for the oxidative decarboxylation of the C..:
Pelosi, Ludovic
;
Morbiato, Laura
;
Burgardt, Arthur
...
Molecular Cell. 84 (2024) 5 - p. 981-989.e7 , 2024
Link:
https://doi.org/10.1016/..
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6
A yeast based assay establishes the pathogenicity of novel ..:
Calderan, Cristina
;
Sorrentino, Ugo
;
Persano, Luca
...
European Journal of Human Genetics. 32 (2024) 7 - p. 804-812 , 2024
Link:
https://doi.org/10.1038/..
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7
Mutations of GEMIN5 are associated with coenzyme Q10 defici..:
Cascajo-Almenara, Marivi V.
;
Juliá-Palacios, Natalia.
;
Urreizti, Roser
...
European Journal of Human Genetics. 32 (2024) 4 - p. 426-434 , 2024
Link:
https://doi.org/10.1038/..
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8
Pseudodominant inheritance of retinitis pigmentosa in a fam..:
Di Iorio, Enzo
;
Adamo, Ginevra Giovanna
;
Sorrentino, Ugo
...
Scientific Reports. 14 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
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9
C16ORF70/MYTHO promotes healthy aging in C.elegans and prev..:
Franco-Romero, Anais
;
Morbidoni, Valeria
;
Milan, Giulia
...
Journal of Clinical Investigation. 134 (2024) 15 - p. , 2024
Link:
https://doi.org/10.1172/..
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10
Non-Motor Symptoms in Primary Familial Brain Calcification:
Bonato, Giulia
;
Cimino, Paola
;
Pistonesi, Francesca
...
Journal of Clinical Medicine. 13 (2024) 13 - p. 3873 , 2024
Link:
https://doi.org/10.3390/..
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11
A case of childhood-onset dystonia-parkinsonism due to homo..:
Garrì, Federica
;
Ciprietti, Dario
;
Lerjefors, Lisa
...
Neurological Sciences. 44 (2023) 9 - p. 3323-3326 , 2023
Link:
https://doi.org/10.1007/..
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12
Light and Shadows in Newborn Screening for Lysosomal Storag..:
Gragnaniello, Vincenza
;
Cazzorla, Chiara
;
Gueraldi, Daniela
...
International Journal of Neonatal Screening. 10 (2023) 1 - p. 3 , 2023
Link:
https://doi.org/10.3390/..
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13
Abnormal activation of MAPKs pathways and inhibition of aut..:
Gragnaniello, Vincenza
;
Gueraldi, Daniela
;
Puma, Andrea
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
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14
Electroclinical Features in Two Novel STRADA Patients and a..:
Ancora, Caterina
;
Marchi, Marco
;
Bonardi, Claudia Maria
...
Pediatric Neurology. 148 (2023) - p. 152-156 , 2023
Link:
https://doi.org/10.1016/..
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15
Defective excitation-contraction coupling and mitochondrial..:
Marchioretti, Caterina
;
Zanetti, Giulia
;
Pirazzini, Marco
...
Nature Communications. 14 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
1-15