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Travaglini, Lorena
145  results:
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1

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From ..:

Sartorelli, Jacopo ; Travaglini, Lorena ; Macchiaiolo, Marina...
Genes.  15 (2024)  4 - p. 508 , 2024
Link: https://doi.org/10.3390/..
 
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2

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition w..:

Ortigoza‐Escobar, Juan Darío ; Zamani, Mina ; Dorison, Nathalie...
Movement Disorders.  , 2024
Link: https://doi.org/10.1002/..
 
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3

Acute Ophthalmoplegia with Wernicke‐Like MRI Pattern in a P..:

Sartorelli, Jacopo ; Longo, Daniela ; Travaglini, Lorena...
Movement Disorders Clinical Practice.  , 2024
Link: https://doi.org/10.1002/..
 
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4

Modeling riboflavin transporter deficiency type 2: from iPS..:

Magliocca, Valentina ; Lanciotti, Angela ; Ambrosini, Elena...
Frontiers in Cellular Neuroscience.  18 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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5

Case report: A novel mutation of glial fibrillary acidic pr..:

Romano, Carmela ; Morena, Emanuele ; Petrucci, Simona...
Frontiers in Neurology.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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6

BCL11B‐Related Dystonia: Further Evidence of an Emerging Ca..:

Garone, Giacomo ; Capuano, Alessandro ; Amodio, Donato...
Movement Disorders Clinical Practice.  11 (2024)  7 - p. 897-901 , 2024
Link: https://doi.org/10.1002/..
 
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7

Leukoencephalopathy with spot-like calcifications caused by..:

Nicita, Francesco ; Aiello, Chiara ; Carboni, Alessia...
Clinical Neurology and Neurosurgery.  225 (2023)  - p. 107584 , 2023
Link: https://doi.org/10.1016/..
 
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8

Type I Interferon Signature in NOTCH1‐Related Leukoencephal..:

Nicita, Francesco ; Travaglini, Lorena ; Matteo, Valentina...
Annals of Neurology.  93 (2023)  5 - p. 1041-1043 , 2023
Link: https://doi.org/10.1002/..
 
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9

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose IT..:

Romaniello, Romina ; Pasca, Ludovica ; Panzeri, Elena...
International Journal of Molecular Sciences.  23 (2022)  12 - p. 6723 , 2022
Link: https://doi.org/10.3390/..
 
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10

Deep Molecular Characterization of Milder Spinal Muscular A..:

Blasco-Pérez, Laura ; Costa-Roger, Mar ; Leno-Colorado, Jordi...
International Journal of Molecular Sciences.  23 (2022)  15 - p. 8289 , 2022
Link: https://doi.org/10.3390/..
 
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11

Cerebellar Agenesis and Bilateral Polimicrogyria Associated..:

Costanzo, Floriana ; Zanni, Ginevra ; Fucà, Elisa...
International Journal of Environmental Research and Public Health.  19 (2022)  3 - p. 1224 , 2022
Link: https://doi.org/10.3390/..
 
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12

"Atypical" Krabbe disease in two siblings harboring biallel..:

Nicita, Francesco ; Stregapede, Fabrizia ; Deodato, Federica...
European Journal of Human Genetics.  30 (2022)  8 - p. 984-988 , 2022
Link: https://doi.org/10.1038/..
 
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13

Hypoventilation and sleep hypercapnia in a case of congenit..:

Ghirardo, Sergio ; Sabatini, Letizia ; Onofri, Alessandro...
Italian Journal of Pediatrics.  48 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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14

Expanding phenotype of FAM111B‐related disease focusing on ..:

Macchiaiolo, Marina ; Panfili, Filippo M. ; Vecchio, Davide...
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 2920-2931 , 2022
Link: https://doi.org/10.1002/..
 
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15

Mild Neurological Phenotype Associated with Hypomorphic Var..:

Caputi, Caterina ; Federici, Giulia ; Soddu, Silvia...
Movement Disorders Clinical Practice.  10 (2022)  1 - p. 124-129 , 2022
Link: https://doi.org/10.1002/..
 
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