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Santorelli, Filippo M.
~ 800  results:
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1

Digital Gait Outcomes for Autosomal Recessive Spastic Ataxi..:

Beichert, Lukas ; Ilg, Winfried ; Kessler, Christoph...
Movement Disorders.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Decreasing ganglioside synthesis delays motor and cognitive..:

Fortier, Manon ; Cauhapé, Margaux ; Buono, Suzie...
Neurobiology of Disease.  199 (2024)  - p. 106564 , 2024
Link: https://doi.org/10.1016/..
 
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3

FARS‐ADL across Ataxias: Construct Validity, Sensitivity to..:

Traschütz, Andreas ; Fleszar, Zofia ; Hengel, Holger...
Movement Disorders.  39 (2024)  6 - p. 965-974 , 2024
Link: https://doi.org/10.1002/..
 
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4

Targeting autophagy impairment improves the phenotype of a ..:

Marchese, Maria ; Bernardi, Sara ; Ogi, Asahi...
Neurobiology of Disease.  197 (2024)  - p. 106536 , 2024
Link: https://doi.org/10.1016/..
 
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5

OPA1 mutation affects autophagy and triggers senescence in ..:

Zanfardino, Paola ; Amati, Alessandro ; Doccini, Stefano...
Human Molecular Genetics.  33 (2024)  9 - p. 768-786 , 2024
Link: https://doi.org/10.1093/..
 
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6

Plasma Neurofilament Light Chain Is Elevated in Adaptor Pro..:

Alecu, Julian E. ; Saffari, Afshin ; Ziegler, Marvin...
Movement Disorders.  38 (2023)  9 - p. 1742-1750 , 2023
Link: https://doi.org/10.1002/..
 
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7

PPAR-gamma agonist pioglitazone recovers mitochondrial qual..:

Di Donfrancesco, Alessia ; Berlingieri, Christian ; Giacomello, Marta...
Frontiers in Pharmacology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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8

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency..:

Traschütz, Andreas ; Adarmes‐Gomez, Astrid D. ; Anheim, Mathieu...
Movement Disorders.  38 (2023)  6 - p. 1109-1112 , 2023
Link: https://doi.org/10.1002/..
 
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9

A new genetic cause of spastic ataxia: the p.Glu415Lys vari..:

Torella, Annalaura ; Ricca, Ivana ; Piluso, Giulio...
Journal of Neurology.  270 (2023)  10 - p. 5057-5063 , 2023
Link: https://doi.org/10.1007/..
 
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10

Short-Term Effects of Human versus Bovine Sialylated Milk O..:

Licitra, Rosario ; Naef, Valentina ; Marchese, Maria...
International Journal of Molecular Sciences.  24 (2023)  6 - p. 5456 , 2023
Link: https://doi.org/10.3390/..
 
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11

Extreme phenotypic heterogeneity in non-expansion spinocere..:

Cunha, Paulina ; Petit, Emilien ; Coutelier, Marie...
The American Journal of Human Genetics.  110 (2023)  7 - p. 1098-1109 , 2023
Link: https://doi.org/10.1016/..
 
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12

GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural hist..:

Wilke, Carlo ; Pellerin, David ; Mengel, David...
Brain.  146 (2023)  10 - p. 4144-4157 , 2023
Link: https://doi.org/10.1093/..
 
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13

New cellular imaging‐based method to distinguish the SPG4 s..:

Sardina, Francesca ; Valente, Davide ; Fattorini, Gaia...
European Journal of Neurology.  30 (2023)  6 - p. 1734-1744 , 2023
Link: https://doi.org/10.1111/..
 
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14

Power of NGS-based tests in HSP diagnosis: analysis of mass..:

Galatolo, Daniele ; Trovato, Rosanna ; Scarlatti, Arianna...
neurogenetics.  , 2023
Link: https://doi.org/10.1007/..
 
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15

Converging Role for REEP1/SPG31 in Oxidative Stress:

Naef, Valentina ; Meschini, Maria C. ; Tessa, Alessandra...
International Journal of Molecular Sciences.  24 (2023)  4 - p. 3527 , 2023
Link: https://doi.org/10.3390/..
 
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