E-LIB Suche - Ergebnisse für: Basak, Nazlı

1

Mutations in the tail and rod domains of the neurofilament ..:

Marriott, Heather ; Spargo, Thomas P. ; Al Khleifat, Ahmad...
Annals of Clinical and Translational Neurology. , 2024

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

2

α‐Synuclein Pathology in PRKN‐Linked Parkinson's Disease: N..:

Kluge, Annika ; Borsche, Max ; Streubel‐Gallasch, Linn...
Annals of Neurology. 95 (2024) 6 - p. 1173-1177 , 2024

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

3

Computing linkage disequilibrium aware genome embeddings us..:

Taş, Gizem ; Westerdijk, Timo ; Postma, Eric...
Bioinformatics. 40 (2024) 6 - p. , 2024

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

4

Non‐GAARepeat Expansions inFGF14Are Likely Not Pathogenic—R..:

Pellerin, David ; Iruzubieta, Pablo ; Tekgül, Şeyma...
Movement Disorders. 38 (2023) 8 - p. 1575-1577 , 2023

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

5

Large-scale analyses of CAV1 and CAV2 suggest their express..:

Adey, Brett N. ; Cooper-Knock, Johnathan ; Al Khleifat, Ahmad...
Frontiers in Cellular Neuroscience. 17 (2023) - p. , 2023

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

6

White matter abnormalities in 15 subjects with SPG76:

Alkhalifa, Abdulrahman ; Chen, Shihan ; Hasiloglu, Zehra Isik...
Journal of Neurology. 270 (2023) 12 - p. 5784-5792 , 2023

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

7

Another de novo mutation in the SOD1 gene: the first Turkis..:

Bayraktar, Elif ; Çiftçi, Vildan ; Uysal, Hilmi.
Frontiers in Genetics. 14 (2023) - p. , 2023

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

8

Genetic variability in sporadic amyotrophic lateral scleros..:

Van Daele, Sien Hilde ; Moisse, Matthieu ; van Vugt, Joke J F A...
Brain. 146 (2023) 9 - p. 3760-3769 , 2023

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

9

White Matter Involvement in SPG76. A Retrospective MRI Anal..:

Alkhalifa, Abdulrahman ; Chen, Shihan ; Filosto, Massimiliano...
Neurology. 98 (2022) 18_supplement - p. , 2022

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

10

Four Turkish families with hyperekplexia: A missense mutati..:

Tezen, Didem ; Şimşir, Gülşah ; Çokar, Özlem...
Parkinsonism & Related Disorders. 105 (2022) - p. 128-131 , 2022

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

11

The impact of age on genetic testing decisions in amyotroph..:

Mehta, Puja R ; Iacoangeli, Alfredo ; Opie-Martin, Sarah...
Brain. 145 (2022) 12 - p. 4440-4447 , 2022

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

12

Repeat expansion size predicts age of onset in RFC1 CANVAS ..:

Cortese, Andrea ; Curro', Riccardo ; Dominik, Natalia...
Neurology. 98 (2022) 18_supplement - p. , 2022

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

13

Sensory axonal neuropathy in RFC1-disease: tip of the icebe..:

Traschütz, Andreas ; Wilke, Carlo ; Haack, Tobias B....
Brain. 145 (2022) 3 - p. e6-e9 , 2022

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

14

Expanding PRDX3 disease: broad range of onset age and infra..:

Rebelo, Adriana P ; Bender, Benjamin ; Haack, Tobias B...
Brain. 145 (2022) 10 - p. e95-e98 , 2022

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

15

The ARCA Registry: A Collaborative Global Platform for Adva..:

Traschütz, Andreas ; Reich, Selina ; Adarmes, Astrid D....
Frontiers in Neurology. 12 (2021) - p. , 2021

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