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Basak, Nazlı
373  results:
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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.  11 (2024)  7 - p. 1775-1786 , 2024
Link: https://doi.org/10.1002/..
 
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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/..
 
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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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

The Effect of SMN Gene Dosage on ALS Risk and Disease Sever..:

Moisse, Matthieu ; Zwamborn, Ramona A. J. ; van Vugt, Joke...
Annals of Neurology.  89 (2021)  4 - p. 686-697 , 2021
Link: https://doi.org/10.1002/..
 
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