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Di Fonzo, Alessio
309  Ergebnisse:
Personensuche X
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1

Soft cerebellar signs unveil RARS2‐related epilepsy:

Yahya, Vidal ; Dilena, Robertino ; Del Bo, Roberto...
Epileptic Disorders.  , 2024
Link: https://doi.org/10.1002/..
 
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2

The p.Val234Met LRP10 likely pathogenic variant associated ..:

Pilotto, Andrea ; Carini, Mattia ; Lupini, Alessandro...
Parkinsonism & Related Disorders.  123 (2024)  - p. 106973 , 2024
Link: https://doi.org/10.1016/..
 
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3

A Novel Pathogenic PSEN1 Variant in a Patient With Dystonia..:

Malaguti, Maria Chiara ; Di Fonzo, Alessio ; Longo, Chiara...
Journal of Movement Disorders.  17 (2024)  1 - p. 102-105 , 2024
Link: https://doi.org/10.14802..
 
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4

A Case of 18p Chromosomal Deletion Encompassing GNAL in a P..:

Di Rauso, Giulia ; Cavallieri, Francesco ; Monfrini, Edoardo...
Journal of Movement Disorders.  17 (2024)  2 - p. 236-238 , 2024
Link: https://doi.org/10.14802..
 
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5

Supplementing Best Care with Specialized Rehabilitation Tre..:

Ghilardi, Maria Felice ; Quartarone, Angelo ; Di Rocco, Alessandro...
Journal of Clinical Medicine.  13 (2024)  10 - p. 2999 , 2024
Link: https://doi.org/10.3390/..
 
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6

Ambrox through the Looking Glass: Chemoenzymatic Synthesis ..:

Flachsmann, Felix ; Aeberli, Natalie ; Dossenbach, Sandro...
Helvetica Chimica Acta.  , 2024
Link: https://doi.org/10.1002/..
 
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7

Unleashing the potential of mRNA therapeutics for inherited..:

Monfrini, Edoardo ; Baso, Giacomo ; Ronchi, Dario...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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8

Genotype–phenotype correlation in PRKN-associated Parkinson..:

Menon, Poornima Jayadev ; Sambin, Sara ; Criniere-Boizet, Baptiste...
npj Parkinson's Disease.  10 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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9

SCARB1 downregulation in adrenal insufficiency with Allgrov..:

Bitetto, Giacomo ; Lopez, Gianluca ; Ronchi, Dario...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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10

Speech, Gait, and Vestibular Function in Cerebellar Ataxia ..:

Di Rauso, Giulia ; Castellucci, Andrea ; Cavallieri, Francesco...
Brain Sciences.  13 (2023)  10 - p. 1467 , 2023
Link: https://doi.org/10.3390/..
 
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11

Recent Advances in the Treatment of Genetic Forms of Parkin..:

Cavallieri, Francesco ; Cury, Rubens G. ; Guimarães, Thiago...
Cells.  12 (2023)  5 - p. 764 , 2023
Link: https://doi.org/10.3390/..
 
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12

iPSC-Derived Striatal Medium Spiny Neurons from Patients wi..:

Henkel, Lisa M. ; Kankowski, Svenja ; Moellenkamp, Thiemo M....
Cells.  12 (2023)  2 - p. 223 , 2023
Link: https://doi.org/10.3390/..
 
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13

Deconstructing speech alterations in episodic ataxia type 2..:

Argenziano, Giacomo ; Cavallieri, Francesco ; Monfrini, Edoardo...
Parkinsonism & Related Disorders.  108 (2023)  - p. 105311 , 2023
Link: https://doi.org/10.1016/..
 
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14

Neuronopathic Gaucher disease models reveal defects in cell..:

Messelodi, Daria ; Strocchi, Silvia ; Bertuccio, Salvatore Nicola...
Communications Biology.  6 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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15

Genotype-Phenotype correlation in Parkin-Parkinson's diseas..:

Menon, Poornima Jayadev ; Sambin, Sara ; Criniere-Boizet, Baptiste...
Neurology.  100 (2023)  17_supplement_2 - p. , 2023
Link: https://doi.org/10.1212/..
 
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