E-LIB Suche - Ergebnisse für: Currò, Riccardo

1

Neurological disorders caused by novel non-coding repeat ex..:

Vegezzi, Elisa ; Ishiura, Hiroyuki ; Bragg, D Cristopher...
The Lancet Neurology. 23 (2024) 7 - p. 725-739 , 2024

2

Heterozygous APTX mutation associated with atypical multipl..:

Imarisio, Alberto ; Pilotto, Andrea ; Lupini, Alessandro...
Parkinsonism & Related Disorders. 123 (2024) - p. 106943 , 2024

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

3

Pathologic RFC1 repeat expansions do not contribute to the ..:

Nagy, Sara ; Carr, Aisling ; Mroczek, Magdalena...
Brain Communications. , 2024

Link: https://doi.org/10.1093/..

4

Role of the repeat expansion size in predicting age of onse..:

Currò, Riccardo ; Dominik, Natalia ; Facchini, Stefano...
Brain. 147 (2024) 5 - p. 1887-1898 , 2024

Link: https://doi.org/10.1093/..

5

Serum Neurofilament Light Chain in Replication Factor Compl..:

Quartesan, Ilaria ; Vegezzi, Elisa ; Currò, Riccardo...
Movement Disorders. 39 (2023) 1 - p. 209-214 , 2023

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

6

Intronic FGF14 GAA repeat expansions are a common cause of ..:

Pellerin, David ; Wilke, Carlo ; Traschütz, Andreas...
Journal of the Neurological Sciences. 455 (2023) - p. 121185 , 2023

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

7

Progressive post infectious neurological syndromes with a p..:

Businaro, Pietro ; Currò, Riccardo ; Vegezzi, Elisa...
Multiple Sclerosis and Related Disorders. 76 (2023) - p. 104781 , 2023

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

8

Normal and pathogenic variation of RFC1 repeat expansions: ..:

Dominik, Natalia ; Magri, Stefania ; Currò, Riccardo...
Brain. 146 (2023) 12 - p. 5060-5069 , 2023

Link: https://doi.org/10.1093/..

9

Truncating Variants inRFC1in Cerebellar Ataxia, Neuropathy,..:

Ronco, Riccardo ; Perini, Cecilia ; Currò, Riccardo...
Neurology. 100 (2023) 5 - p. , 2023

Link: https://doi.org/10.1212/..

10

Mutations in alpha‐B‐crystallin cause autosomal dominant ax..:

Cortese, Andrea ; Currò, Riccardo ; Ronco, Riccardo...
European Journal of Neurology. 31 (2023) 1 - p. , 2023

Link: https://doi.org/10.1111/..

11

Optical Genome Mapping Enables Detection and Accurate Sizin..:

Facchini, Stefano ; Dominik, Natalia ; Manini, Arianna...
Biomolecules. 13 (2023) 10 - p. 1546 , 2023

Link: https://doi.org/10.3390/..

12

IntronicFGF14GAA repeat expansions are a common cause of at..:

Pellerin, David ; Wilke, Carlo ; Traschütz, Andreas...
Journal of Neurology, Neurosurgery & Psychiatry. 95 (2023) 2 - p. 175-179 , 2023

Link: https://doi.org/10.1136/..

13

Can CANVAS due toRFC1biallelic expansions present with pure..:

Hadjivassiliou, Marios ; Currò, Riccardo ; Beauchamp, Nick...
Journal of Neurology, Neurosurgery & Psychiatry. 95 (2023) 2 - p. 171-174 , 2023

Link: https://doi.org/10.1136/..

14

Muscle quantitative MRI as a novel biomarker in hereditary ..:

Vegezzi, Elisa ; Cortese, Andrea ; Bergsland, Niels...
Journal of Neurology. 270 (2022) 1 - p. 328-339 , 2022

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

15

Severe distinct dysautonomia in RFC1‐related disease associ..:

Record, Christopher J. ; Alsukhni, Rana Alnasser ; Curro, Riccardo...
Journal of the Peripheral Nervous System. 27 (2022) 4 - p. 311-315 , 2022

Link: https://doi.org/10.1111/..