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Ravenscroft, Gianina
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1

Three novel missense variants in two families with JAG2-ass..:

Dofash, Lein ; Lyengar, Krishnan ; Pereira, Nolette...
Neuromuscular Disorders.  , 2024
Link: https://doi.org/10.1016/..
 
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2

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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3

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/..
 
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4

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/..
 
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5

A splice-altering homozygous variant in COX18 causes severe..:

Mavillard, Fabiola ; Guerra-Castellano, Alejandra ; Guerrero-Gómez, David...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1870 (2024)  7 - p. 167330 , 2024
Link: https://doi.org/10.1016/..
 
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6

Generation of iPSC lines from three Laing distal myopathy p..:

Clayton, Joshua S. ; Vo, Christina ; Crane, Jordan...
Stem Cell Research.  , 2024
Link: https://doi.org/10.1016/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

De novo variants in ATXN7L3 lead to developmental delay, hy..:

Harel, Tamar ; Spicher, Camille ; Scheer, Elisabeth...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

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/..
 
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