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Salviati, Leonardo
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1

Defective excitation-contraction coupling and mitochondrial..:

Marchioretti, Caterina ; Zanetti, Giulia ; Pirazzini, Marco...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9902403/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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2

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

Gragnaniello, Vincenza ; Rizzardi, Caterina ; Commone, Anna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10052533/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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3

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

Doni Davide ; Cavion Federica ; Bortolus Marco...
https://doi.org/10.1038/s41419-023-06320-y.  , 2023
Link: https://doi.org/10.1038/..
 
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4

Defective excitation-contraction coupling and mitochondrial..:

Marchioretti, Caterina ; Zanetti, Giulia ; Pirazzini, Marco...
info:eu-repo/semantics/altIdentifier/wos/WOS:000954587000004.  , 2023
Link: https://hdl.handle.net/1..
 
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5

Light and Shadows in Newborn Screening for Lysosomal Storag..:

Gragnaniello, Vincenza ; Cazzorla, Chiara ; Gueraldi, Daniela...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10801488/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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6

COQ4 is required for the oxidative decarboxylation of the C..:

Pelosi, Ludovic ; Morbiato, Laura ; Burgardt, Arthur...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10680789/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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7

Cyclic AMP induces reversible EPAC1 condensates that regula..:

Iannucci, Liliana Felicia ; D'Erchia, Anna Maria ; Picardi, Ernesto...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10491619/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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8

A novel RRM2B mutation associated with mitochondrial DNA de..:

Fumagalli, Monica ; Ronchi, Dario ; Bedeschi, Maria Francesca...
info:eu-repo/semantics/altIdentifier/pmid/35756861.  , 2022
Link: https://hdl.handle.net/2..
 
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9

Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:

Kim, Hong Joo ; Mohassel, Payam ; Donkervoort, Sandra...
https://discovery.ucl.ac.uk/id/eprint/10147964/1/s41467-022-30015-1.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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10

Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:

Kim, Hong Joo ; Mohassel, Payam ; Donkervoort, Sandra...
https://jdc.jefferson.edu/bmpfp/216.  , 2022
Link: https://jdc.jefferson.ed..
 
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11

Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:

Kim, Hong Joo ; Mohassel, Payam ; Donkervoort, Sandra...
https://boris.unibe.ch/169644/.  , 2022
Link: https://boris.unibe.ch/1..
 
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12

Analysis and pharmacological modulation of senescence in hu..:

Barbaro, Vanessa ; Orvieto, Antonio ; Alvisi, Gualtiero...
info:eu-repo/semantics/altIdentifier/doi/10.1111/jcmm.17434.  , 2022
Link: https://hdl.handle.net/2..
 
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13

OPA1 drives macrophage metabolism and functional commitment..:

Sánchez-Rodríguez, Ricardo ; Tezze, Caterina ; Agnellini, Andrielly H. R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9984365/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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14

Adult-onset KMT2B-related dystonia:

Monfrini, Edoardo ; Ciolfi, Andrea ; Cavallieri, Francesco...
info:eu-repo/semantics/altIdentifier/pmid/36483457.  , 2022
Link: https://hdl.handle.net/1..
 
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15

Analysis and pharmacological modulation of senescence in hu..:

Barbaro, Vanessa ; Orvieto, Antonio ; Alvisi, Gualtiero...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9279594/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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