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Rebelo, Adriana
247
results:
Search for persons
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Format
Online (247)
Mediatypes
Articles (Online) (113)
Bookchapter (Online) (1)
OpenAccess-fulltext (133)
Languages
english (202)
portuguese (21)
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1
A common flanking variant is associated with enhanced stabi..:
Pellerin, David
;
Del Gobbo, Giulia F.
;
Couse, Madeline
...
Nature Genetics. 56 (2024) 7 - p. 1366-1370 , 2024
Link:
https://doi.org/10.1038/..
?
2
A recurrent missense variant in ITPR3 causes demyelinating ..:
Beijer, Danique
;
Dohrn, Maike F
;
Rebelo, Adriana
...
Brain. , 2024
Link:
https://doi.org/10.1093/..
?
3
Customized antisense oligonucleotide-based therapy for neur..:
Medina, Jessica
;
Rebelo, Adriana
;
Danzi, Matt C
...
Brain. , 2024
Link:
https://doi.org/10.1093/..
?
4
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/..
?
5
Bioassay-confirmed Pathogenic De Novo ATP1A1 Variants Cause..:
Dohrn, Maike
;
Rebelo, Adriana
;
Srivastava, Siddharth
...
Neurology. 98 (2022) 18_supplement - p. , 2022
Link:
https://doi.org/10.1212/..
?
6
SORD NEUROPATHY: GENE IDENTIFICATION AND PROPOSAL FOR A FOL..:
Cortese, Andrea
;
Dohrn, Maike
;
Zhu, Yi
...
Neurology. 96 (2021) 15_supplement - p. , 2021
Link:
https://doi.org/10.1212/..
?
7
Loss of Function, Loss of Pain? Novel Variants in SCN9A to ..:
Cintra, Vivian Pedigone
;
Dohrn, Maike
;
Tomaselli, Pedro
...
Neurology. 96 (2021) 15_supplement - p. , 2021
Link:
https://doi.org/10.1212/..
?
8
Author Correction: Biallelic expansion of an intronic repea..:
Cortese, Andrea
;
Simone, Roberto
;
Sullivan, Roisin
...
Nature Genetics. 51 (2019) 5 - p. 920-920 , 2019
Link:
https://doi.org/10.1038/..
?
9
Kinase Inhibitors Improve Neurofilament Distribution in CMT..:
Saporta, Mario
;
Maciel, Renata
;
Cutrupi, Anthony
..
Neurology. 92 (2019) 15_supplement - p. , 2019
Link:
https://doi.org/10.1212/..
?
10
Biallelic expansion of an intronic repeat in RFC1 is a comm..:
Cortese, Andrea
;
Simone, Roberto
;
Sullivan, Roisin
...
Nature Genetics. 51 (2019) 4 - p. 649-658 , 2019
Link:
https://doi.org/10.1038/..
?
11
Myopathy associated BAG3 mutations lead to protein aggregat..:
Meister-Broekema, Melanie
;
Freilich, Rebecca
;
Jagadeesan, Chandhuru
...
Nature Communications. 9 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1038/..
?
12
Cryptic amyloidogenic elements in mutant NEFH causing Charc..:
Jacquier, Arnaud
;
Delorme, Cécile
;
Belotti, Edwige
...
Acta Neuropathologica Communications. 5 (2017) 1 - p. , 2017
Link:
https://doi.org/10.1186/..
?
13
AXONAL RNA PROFILING OF HUMAN MOTOR NEURONS AS A NOVEL APPR..:
Saporta, Mario
;
de Moraes Maciel, Renata
;
Rebelo, Adriana
...
Neurology. 88 (2017) 16_supplement - p. , 2017
Link:
https://doi.org/10.1212/..
?
14
An Ugo1-like protein is associated with optic atrophy 'plus..:
Abrams, Alexander J.
;
Hufnagel, Robert B.
;
Rebelo, Adriana
...
Mitochondrion. 24 (2015) - p. S16 , 2015
Link:
https://doi.org/10.1016/..
?
15
Mutations in SLC25A46, encoding a UGO1-like protein, cause ..:
Abrams, Alexander J
;
Hufnagel, Robert B
;
Rebelo, Adriana
...
Nature Genetics. 47 (2015) 8 - p. 926-932 , 2015
Link:
https://doi.org/10.1038/..
1-15