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Nicholson Garth
338
results:
Search for persons
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Format
Online (337)
Print (1)
Mediatypes
Books (1)
Articles (Online) (180)
OpenAccess-fulltext (157)
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1
A deep intronic variant in MME causes autosomal recessive C..:
Grosz, Bianca R.
;
Parmar, Jevin M.
;
Ellis, Melina
...
Journal of the Peripheral Nervous System. 29 (2024) 2 - p. 262-274 , 2024
Link:
https://doi.org/10.1111/..
?
2
Treatment with sodium butyrate induces autophagy resulting ..:
Watchon, Maxinne
;
Robinson, Katherine J.
;
Luu, Luan
...
The FASEB Journal. 38 (2024) 2 - p. , 2024
Link:
https://doi.org/10.1096/..
?
3
Hippocampal aggregation signatures of pathogenic UBQLN2 in ..:
Thumbadoo, Kyrah M
;
Dieriks, Birger V
;
Murray, Helen C
...
Brain. , 2024
Link:
https://doi.org/10.1093/..
?
4
Author Correction: The SOD1-mediated ALS phenotype shows a ..:
Opie-Martin, Sarah
;
Iacoangeli, Alfredo
;
Topp, Simon D.
...
Nature Communications. 15 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
5
C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-G..:
Sultana, Jessica
;
Ragagnin, Audrey M. G.
;
Parakh, Sonam
...
Molecular Neurobiology. , 2024
Link:
https://doi.org/10.1007/..
?
6
Distribution of ubiquilin 2 and TDP‐43 aggregates throughou..:
Nementzik, Laura R.
;
Thumbadoo, Kyrah M.
;
Murray, Helen C.
...
Brain Pathology. 34 (2023) 3 - p. , 2023
Link:
https://doi.org/10.1111/..
?
7
A humanized yeast model reveals dominant-negative propertie..:
Meyer-Schuman, Rebecca
;
Marte, Sheila
;
Smith, Tyler J
...
Human Molecular Genetics. 32 (2023) 13 - p. 2177-2191 , 2023
Link:
https://doi.org/10.1093/..
?
8
Long read sequencing overcomes challenges in the diagnosis ..:
Grosz, Bianca R.
;
Stevanovski, Igor
;
Negri, Sara
...
Journal of the Peripheral Nervous System. 27 (2022) 2 - p. 120-126 , 2022
Link:
https://doi.org/10.1111/..
?
9
Novel gene–intergenic fusion involving ubiquitin E3 ligase ..:
Cutrupi, Anthony N
;
Narayanan, Ramesh K
;
Perez-Siles, Gonzalo
...
Brain. 146 (2022) 3 - p. 880-897 , 2022
Link:
https://doi.org/10.1093/..
?
10
Identity-by-descent analysis of CMTX3 links three families ..:
Henden, Lyndal
;
Grosz, Bianca R.
;
Ellis, Melina
...
Journal of Human Genetics. 68 (2022) 1 - p. 47-49 , 2022
Link:
https://doi.org/10.1038/..
?
11
The SOD1-mediated ALS phenotype shows a decoupling between ..:
Opie-Martin, Sarah
;
Iacoangeli, Alfredo
;
Topp, Simon D.
...
Nature Communications. 13 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
?
12
Sodium valproate increases activity of the sirtuin pathway ..:
Watchon, Maxinne
;
Luu, Luan
;
Robinson, Katherine J.
...
Molecular Brain. 14 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
13
Charcot–Marie–tooth disease causing mutation (p.R158H) in p..:
Narayanan, Ramesh K
;
Brewer, Megan H
;
Perez-Siles, Gonzalo
...
Human Molecular Genetics. 31 (2021) 1 - p. 133-145 , 2021
Link:
https://doi.org/10.1093/..
?
14
Polygenic risk score analysis for amyotrophic lateral scler..:
Restuadi, Restuadi
;
Garton, Fleur C.
;
Benyamin, Beben
...
European Journal of Human Genetics. 30 (2021) 5 - p. 532-539 , 2021
Link:
https://doi.org/10.1038/..
?
15
Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-1..:
Grosz, Bianca R.
;
Svaren, John
;
Perez-Siles, Gonzalo
..
neurogenetics. 22 (2021) 3 - p. 149-160 , 2021
Link:
https://doi.org/10.1007/..
1-15