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Salviati, Leonardo
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1

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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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

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/..
 
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5

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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6

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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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

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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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

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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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

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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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

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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15

ZFHX4 truncating variant and orofacial clefting:

Sorrentino, Ugo ; Fedrigo, Marny ; Calò, Anna Paola...
American Journal of Medical Genetics Part A.  194 (2023)  1 - p. 115-116 , 2023
Link: https://doi.org/10.1002/..
 
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