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Boesch, Sylvia
262  results:
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1

Genetic Determined Iron Starvation Signature in Friedreich'..:

Grander, Manuel ; Haschka, David ; Indelicato, Elisabetta...
Movement Disorders.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Dystonia and mitochondrial disease: the movement disorder c..:

Indelicato, Elisabetta ; Schlieben, Lea D. ; Stenton, Sarah L....
Journal of Neurology.  , 2024
Link: https://doi.org/10.1007/..
 
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3

GAA/FGF14 ataxia: an ode to the phenotype-first approach:

Indelicato, Elisabetta ; Boesch, Sylvia
eBioMedicine.  103 (2024)  - p. 105131 , 2024
Link: https://doi.org/10.1016/..
 
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4

CHD8-related disorders redefined: an expanding spectrum of ..:

Sorrentino, Ugo ; Boesch, Sylvia ; Doummar, Diane...
Journal of Neurology.  271 (2024)  5 - p. 2859-2865 , 2024
Link: https://doi.org/10.1007/..
 
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5

Approval of omaveloxolone for Friedreich ataxia:

Boesch, Sylvia ; Indelicato, Elisabetta
Nature Reviews Neurology.  , 2024
Link: https://doi.org/10.1038/..
 
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6

Heterogeneous Phenotypic Evolution in ANO3‐Related Dystonia..:

Indelicato, Elisabetta ; Boesch, Sylvia ; Zech, Michael
Movement Disorders.  39 (2024)  3 - p. 631-632 , 2024
Link: https://doi.org/10.1002/..
 
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7

SOXopathies and dystonia: Consolidation of a recurrent asso..:

Indelicato, Elisabetta ; Boesch, Sylvia ; Havrankova, Petra...
Parkinsonism & Related Disorders.  119 (2024)  - p. 105960 , 2024
Link: https://doi.org/10.1016/..
 
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8

Evolution of Clinical Outcome Measures and Biomarkers in Sp..:

Oender, Demet ; Faber, Jennifer ; Wilke, Carlo...
Movement Disorders.  38 (2023)  4 - p. 654-664 , 2023
Link: https://doi.org/10.1002/..
 
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9

Skeletal muscle transcriptomics dissects the pathogenesis o..:

Indelicato, Elisabetta ; Kirchmair, Alexander ; Amprosi, Matthias...
Human Molecular Genetics.  32 (2023)  13 - p. 2241-2250 , 2023
Link: https://doi.org/10.1093/..
 
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10

Predictors of Survival in Friedreich's Ataxia: A Prospectiv..:

Indelicato, Elisabetta ; Reetz, Kathrin ; Maier, Sarah...
Movement Disorders.  39 (2023)  3 - p. 510-518 , 2023
Link: https://doi.org/10.1002/..
 
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11

Consensus Recommendations for Clinical Outcome Assessments ..:

Klockgether, Thomas ; Synofzik, Matthis ; Alhusaini, Saud...
The Cerebellum.  23 (2023)  3 - p. 924-930 , 2023
Link: https://doi.org/10.1007/..
 
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12

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of..:

Harrer, Philip ; Škorvánek, Matej ; Kittke, Volker...
Movement Disorders.  38 (2023)  10 - p. 1914-1924 , 2023
Link: https://doi.org/10.1002/..
 
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13

Spinocerebellar ataxia 27B: episodic symptoms and acetazola..:

Ashton, Catherine ; Indelicato, Elisabetta ; Pellerin, David...
Brain Communications.  5 (2023)  5 - p. , 2023
Link: https://doi.org/10.1093/..
 
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14

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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15

Development and Validation of a Prognostic Model to Predict..:

Eschlboeck, Sabine ; Goebel, Georg ; Eckhardt, Christine...
Movement Disorders Clinical Practice.  10 (2023)  9 - p. 1368-1376 , 2023
Link: https://doi.org/10.1002/..
 
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