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Salviati, Leonardo
354  results:
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1

C16ORF70/Mytho promotes healthy ageing in C. elegans and pr..:

Franco-Romero, Anais ; Morbidoni, Valeria ; Milan, Giulia...
Journal of Clinical Investigation.  , 2024
Link: https://doi.org/10.1172/..
 
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2

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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3

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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4

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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5

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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6

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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7

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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8

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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9

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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10

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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11

Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Com..:

Gragnaniello, Vincenza ; Rizzardi, Caterina ; Commone, Anna...
Journal of Clinical Medicine.  12 (2023)  6 - p. 2365 , 2023
Link: https://doi.org/10.3390/..
 
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12

Human frataxin, the Friedreich ataxia deficient protein, in..:

Doni, Davide ; Cavion, Federica ; Bortolus, Marco...
Cell Death & Disease.  14 (2023)  12 - p. , 2023
Link: https://doi.org/10.1038/..
 
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13

Distal hereditary motor neuropathy caused by coenzyme Q def..:

Desbats, Maria Andrea ; Salviati, Leonardo
Brain.  146 (2023)  10 - p. 3958-3959 , 2023
Link: https://doi.org/10.1093/..
 
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14

Correction to: A case of childhood‑onset dystonia‑parkinson..:

Garrì, Federica ; Ciprietti, Dario ; Lerjefors, Lisa...
Neurological Sciences.  44 (2023)  9 - p. 3373-3373 , 2023
Link: https://doi.org/10.1007/..
 
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15

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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