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Garavaglia, Barbara
296  results:
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1

Myoclonus and Dystonia as Recurrent Presenting Features in ..:

Sorrentino, Ugo ; Romito, Luigi M. ; Garavaglia, Barbara...
Tremor and Other Hyperkinetic Movements.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.5334/..
 
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2

Genome Aggregation Database Version 4—New Challenges of Var..:

Indelicato, Elisabetta ; Romito, Luigi Michele ; Harrer, Philip...
Movement Disorders.  , 2024
Link: https://doi.org/10.1002/..
 
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3

Aceruloplasminemia: Unique Clinical and MRI Findings in a P..:

Colucci, Fabiana ; Barca, Silvia ; Cilia, Roberto...
Movement Disorders Clinical Practice.  , 2024
Link: https://doi.org/10.1002/..
 
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4

Childhood‐Onset Lower Limb Focal Dystonia Due to a NAA15 Va..:

Danti, Federica Rachele ; Sarmiento, Ignacio Juan Keller ; Moloney, Patrick B....
Movement Disorders.  39 (2024)  4 - p. 747-749 , 2024
Link: https://doi.org/10.1002/..
 
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5

Reply to: "Heterogeneous Phenotypic Evolution in ANO3‐Relat..:

Romito, Luigi M. ; Leta, Valentina ; Garavaglia, Barbara...
Movement Disorders.  39 (2024)  3 - p. 632-633 , 2024
Link: https://doi.org/10.1002/..
 
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6

Illustration of the long-term efficacy of pallidal deep bra..:

Romito, Luigi M. ; Colucci, Fabiana ; Zorzi, Giovanna...
Parkinsonism & Related Disorders.  123 (2024)  - p. 106977 , 2024
Link: https://doi.org/10.1016/..
 
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7

Pure Parkinsonism as Possible Phenotype Expansion of THAP1‐..:

Ambrosini, Enrico ; Cancilla, Rita ; Paul, Jefri Jeya...
Movement Disorders.  39 (2024)  6 - p. 1072-1074 , 2024
Link: https://doi.org/10.1002/..
 
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8

The Clinical Spectrum of ANO3—Report of a New Family and Li..:

Percetti, Marco ; Zini, Michela ; Soliveri, Paola...
Movement Disorders Clinical Practice.  11 (2024)  3 - p. 289-297 , 2024
Link: https://doi.org/10.1002/..
 
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9

A novel GNAL pathogenic variant leading to generalized dyst..:

Romito, Luigi Michele ; Paio, Fabio ; Andreasi, Nico Golfrè...
Parkinsonism & Related Disorders.  115 (2023)  - p. 105833 , 2023
Link: https://doi.org/10.1016/..
 
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10

Two Cases of TMEM151A‐Associated Paroxysmal Dyskinesia in a..:

Satolli, Sara ; Invernizzi, Federica ; Danti, Federica Rachele...
Movement Disorders Clinical Practice.  10 (2023)  5 - p. 842-844 , 2023
Link: https://doi.org/10.1002/..
 
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11

Harmonizing Genetic Testing for Parkinson's Disease: Result..:

Di Fonzo, Alessio ; Percetti, Marco ; Monfrini, Edoardo...
Movement Disorders.  38 (2023)  12 - p. 2241-2248 , 2023
Link: https://doi.org/10.1002/..
 
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12

Episignature analysis of moderate effects and mosaics:

Oexle, Konrad ; Zech, Michael ; Stühn, Lara G....
European Journal of Human Genetics.  31 (2023)  9 - p. 1032-1039 , 2023
Link: https://doi.org/10.1038/..
 
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13

ANO3 as a Cause of Early‐Onset Chorea Combined with Dystoni..:

Romito, Luigi M. ; Leta, Valentina ; Garavaglia, Barbara...
Movement Disorders.  39 (2023)  1 - p. 220-221 , 2023
Link: https://doi.org/10.1002/..
 
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14

NGS-Based Genetic Analysis in a Cohort of Italian Patients ..:

Invernizzi, Federica ; Izzo, Rossella ; Colangelo, Isabel...
Genes.  14 (2023)  7 - p. 1393 , 2023
Link: https://doi.org/10.3390/..
 
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15

Sex distribution and classification of GBA1 variants in an ..:

Panteghini, Celeste ; Reale, Chiara ; Colangelo, Isabel...
Parkinsonism & Related Disorders.  117 (2023)  - p. 105919 , 2023
Link: https://doi.org/10.1016/..
 
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