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Nicholson, Garth A.
344  results:
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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/..
 
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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/..
 
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3

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/..
 
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4

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/..
 
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5

Hippocampal aggregation signatures of pathogenic UBQLN2 in ..:

Thumbadoo, Kyrah M ; Dieriks, Birger V ; Murray, Helen C...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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6

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/..
 
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7

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/..
 
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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/..
 
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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/..
 
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10

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/..
 
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11

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/..
 
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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/..
 
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13

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/..
 
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14

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/..
 
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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/..
 
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