E-LIB Suche - Ergebnisse für: Indelicato, Elisabetta

1

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/..

2

WED-183-YI Neurodegeneration in aceruloplasminemia and carr..:

Panzer, Marlene ; Birkl, Christoph ; Indelicato, Elisabetta...
Journal of Hepatology. 80 (2024) - p. S722 , 2024

Link: https://doi.org/10.1016/..

3

Approval of omaveloxolone for Friedreich ataxia:

Boesch, Sylvia ; Indelicato, Elisabetta
Nature Reviews Neurology. , 2024

Link: https://doi.org/10.1038/..

4

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/..

5

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/..

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/..

7

Genetic Determined Iron Starvation Signature in Friedreich'..:

Grander, Manuel ; Haschka, David ; Indelicato, Elisabetta...
Movement Disorders. , 2024

Link: https://doi.org/10.1002/..

8

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/..

9

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/..

10

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/..

11

Dystonia in ATP Synthase Defects: Reconnecting Mitochondria..:

Indelicato, Elisabetta ; Boesch, Sylvia ; Mencacci, Niccolo' E....
Movement Disorders. 39 (2023) 1 - p. 29-35 , 2023

Link: https://doi.org/10.1002/..

12

CACNA1A-Related Channelopathies: Clinical Manifestations an..:

, In: Voltage-gated Ca2+ Channels: Pharmacology, Modulation and their Role in Human Disease; Handbook of Experimental Pharmacology,

Indelicato, Elisabetta ; Boesch, Sylvia - p. 227-248 , 2023

Link: https://doi.org/10.1007/..

13

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/..

14

Skeletal muscle proteome analysis underpins multifaceted mi..:

Indelicato, Elisabetta ; Faserl, Klaus ; Amprosi, Matthias...
Frontiers in Neuroscience. 17 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

15

Reply to: "Early Onset Nonprogressive Generalized Dystonia ..:

Indelicato, Elisabetta ; Boesch, Sylvia ; Zech, Michael
Movement Disorders. 38 (2023) 6 - p. 1119-1120 , 2023

Link: https://doi.org/10.1002/..