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Filocamo, Mirella
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1

Predicting the probability of Gaucher disease in subjects w..:

Motta, Irene ; Consonni, Dario ; Stroppiano, Marina...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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2

Changes in global gene expression indicate disordered autop..:

Hetmańczyk-Sawicka, Katarzyna ; Iwanicka-Nowicka, Roksana ; Fogtman, Anna...
neurogenetics.  21 (2020)  2 - p. 105-119 , 2020
Link: https://doi.org/10.1007/..
 
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3

An Alu-mediated duplication in NMNAT1, involved in NAD bios..:

Bedoni, Nicola ; Quinodoz, Mathieu ; Pinelli, Michele...
Human Molecular Genetics.  29 (2020)  13 - p. 2250-2260 , 2020
Link: https://doi.org/10.1093/..
 
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4

Gene expression profile in patients with Gaucher disease in..:

Ługowska, Agnieszka ; Hetmańczyk-Sawicka, Katarzyna ; Iwanicka-Nowicka, Roksana...
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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5

A transcriptional and post-transcriptional dysregulation of..:

Costa, Roberto ; Bellesso, Stefania ; Lualdi, Susanna...
Human Molecular Genetics.  29 (2019)  2 - p. 274-285 , 2019
Link: https://doi.org/10.1093/..
 
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6

FGF signaling deregulation is associated with early develop..:

Bellesso, Stefania ; Salvalaio, Marika ; Lualdi, Susanna...
Human Molecular Genetics.  27 (2018)  13 - p. 2262-2275 , 2018
Link: https://doi.org/10.1093/..
 
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7

FGF signaling deregulation is associated with early develop..:

Bellesso, Stefania ; Salvalaio, Marika ; Lualdi, Susanna...
Human Molecular Genetics.  27 (2018)  13 - p. 2407-2407 , 2018
Link: https://doi.org/10.1093/..
 
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8

A new case report of severe mucopolysaccharidosis type VII:..:

Furlan, Francesca ; Rovelli, Attilio ; Rigoldi, Miriam...
Italian Journal of Pediatrics.  44 (2018)  S2 - p. , 2018
Link: https://doi.org/10.1186/..
 
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9

UPR activation and CHOP mediated induction of GBA1 transcri..:

Braunstein, Hila ; Maor, Gali ; Chicco, Gaya...
Blood Cells, Molecules, and Diseases.  68 (2018)  - p. 21-29 , 2018
Link: https://doi.org/10.1016/..
 
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10

Biochemical and molecular analysis in mucopolysaccharidoses..:

Filocamo, Mirella ; Tomanin, Rosella ; Bertola, Francesca.
Italian Journal of Pediatrics.  44 (2018)  S2 - p. , 2018
Link: https://doi.org/10.1186/..
 
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11

Human iPSC-based models highlight defective glial and neuro..:

Frati, Giacomo ; Luciani, Marco ; Meneghini, Vasco...
Cell Death & Disease.  9 (2018)  6 - p. , 2018
Link: https://doi.org/10.1038/..
 
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12

The RD-Connect Registry & Biobank Finder: a tool for sharin..:

Gainotti, Sabina ; Torreri, Paola ; Wang, Chiuhui Mary...
European Journal of Human Genetics.  26 (2018)  5 - p. 631-643 , 2018
Link: https://doi.org/10.1038/..
 
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13

Unusual white matter involvement in EAST syndrome associate..:

Severino, Mariasavina ; Lualdi, Susanna ; Fiorillo, Chiara...
Journal of Neurology.  265 (2018)  6 - p. 1419-1425 , 2018
Link: https://doi.org/10.1007/..
 
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14

Patients derived cellular models to investigate the pathoge..:

Ronchi, Dario ; Ribaudo, Federico ; Aureli, Massimo...
Neurology.  88 (2017)  16_supplement - p. , 2017
Link: https://doi.org/10.1212/..
 
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15

Perturbations in cell signaling elicit early cardiac defect..:

Costa, Roberto ; Urbani, Andrea ; Salvalaio, Marika...
Human Molecular Genetics.  26 (2017)  9 - p. 1643-1655 , 2017
Link: https://doi.org/10.1093/..
 
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