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Ravenscroft, Gianina
207
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Online (207)
Mediatypes
Articles (Online) (76)
OpenAccess-fulltext (131)
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1
Generation of two iPSC lines from adult central core diseas..:
Clayton, Joshua S.
;
Vo, Christina
;
Crane, Jordan
...
Stem Cell Research. 77 (2024) - p. 103411 , 2024
Link:
https://doi.org/10.1016/..
?
2
Role of the repeat expansion size in predicting age of onse..:
Currò, Riccardo
;
Dominik, Natalia
;
Facchini, Stefano
...
Brain. 147 (2024) 5 - p. 1887-1898 , 2024
Link:
https://doi.org/10.1093/..
?
3
De novo variants in ATXN7L3 lead to developmental delay, hy..:
Harel, Tamar
;
Spicher, Camille
;
Scheer, Elisabeth
...
Brain. , 2024
Link:
https://doi.org/10.1093/..
?
4
Generation of two iPSC lines from patients with inherited c..:
Clayton, Joshua S.
;
Vo, Christina
;
Crane, Jordan
...
Stem Cell Research. 77 (2024) - p. 103410 , 2024
Link:
https://doi.org/10.1016/..
?
5
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/..
?
6
Genetics of inherited peripheral neuropathies and the next ..:
Parmar, Jevin M
;
Laing, Nigel G
;
Kennerson, Marina L
.
Journal of Neurology, Neurosurgery & Psychiatry. , 2024
Link:
https://doi.org/10.1136/..
?
7
PPP2R5D heterozygous pathogenic variant causes early-onset ..:
Yau, Wai Yan
;
Vijayan, Srimathy
;
Ravenscroft, Gianina
Parkinsonism & Related Disorders. 124 (2024) - p. 106976 , 2024
Link:
https://doi.org/10.1016/..
?
8
A novel phenotype of AChR-deficiency syndrome with predomin..:
Rodríguez Cruz, Pedro M
;
Ravenscroft, Gianina
;
Natera, Daniel
...
Neuromuscular Disorders. 33 (2023) 2 - p. 161-168 , 2023
Link:
https://doi.org/10.1016/..
?
9
Expanding the phenotype of DNMT3A as a cause a congenital m..:
Ghaoui, Roula
;
Ha, Thuong T.
;
Kerkhof, Jennifer
...
Neuromuscular Disorders. 33 (2023) 6 - p. 484-489 , 2023
Link:
https://doi.org/10.1016/..
?
10
Dynamic regulation of inter-organelle communication by ubiq..:
Mansur, Arian
;
Joseph, Remi
;
Kim, Euri S
...
eLife. 12 (2023) - p. , 2023
Link:
https://doi.org/10.7554/..
?
11
Generation of two induced pluripotent stem cell lines from ..:
Driver, Karrison
;
Vo, Christina
;
Scriba, Carolin K.
...
Stem Cell Research. 73 (2023) - p. 103258 , 2023
Link:
https://doi.org/10.1016/..
?
12
Ablation of the carboxy-terminal end of MAMDC2 causes a dis..:
Mavillard, Fabiola
;
Servian-Morilla, Emilia
;
Dofash, Lein
...
Brain. 146 (2023) 12 - p. 5235-5248 , 2023
Link:
https://doi.org/10.1093/..
?
13
A deep intronic FGF14 GAA repeat expansion causes late-onse..:
Pellerin, David
;
Danzi, Matt
;
Wilke, Carlo
...
Journal of the Neurological Sciences. 455 (2023) - p. 121139 , 2023
Link:
https://doi.org/10.1016/..
?
14
RFC1 in an Australasian neurological disease cohort: extend..:
Scriba, Carolin K
;
Stevanovski, Igor
;
Chintalaphani, Sanjog R
...
Brain Communications. 5 (2023) 4 - p. , 2023
Link:
https://doi.org/10.1093/..
?
15
Identification of a novel heterozygous DYSF variant in a la..:
Folland, Chiara
;
Johnsen, Russell
;
Botero Gomez, Adriana
...
Neuropathology and Applied Neurobiology. 48 (2022) 7 - p. , 2022
Link:
https://doi.org/10.1111/..
1-15