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Danzi, Matt
115
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Online (115)
Mediatypes
Articles (Online) (56)
OpenAccess-fulltext (59)
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1
GAA-FGF14 disease: defining its frequency, molecular basis,..:
Pellerin, David
;
Heindl, Felix
;
Wilke, Carlo
...
eBioMedicine. 102 (2024) - p. 105076 , 2024
Link:
https://doi.org/10.1016/..
?
2
RExPRT: a machine learning tool to predict pathogenicity of..:
Fazal, Sarah
;
Danzi, Matt C.
;
Xu, Isaac
...
Genome Biology. 25 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
3
Recurrent ATP1A1 variant Gly903Arg causes developmental del..:
Dohrn, Maike F.
;
Bademci, Guney
;
Rebelo, Adriana P.
...
Annals of Clinical and Translational Neurology. 11 (2024) 4 - p. 1075-1079 , 2024
Link:
https://doi.org/10.1002/..
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4
A study concept of expeditious clinical enrollment for gene..:
Xu, Isaac R. L.
;
Danzi, Matt C.
;
Ruiz, Ariel
...
Journal of the Peripheral Nervous System. 29 (2024) 2 - p. 202-212 , 2024
Link:
https://doi.org/10.1111/..
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5
The genetic landscape and phenotypic spectrum of GAA-FGF14 ..:
Ouyang, Riwei
;
Wan, Linlin
;
Pellerin, David
...
eBioMedicine. 102 (2024) - p. 105077 , 2024
Link:
https://doi.org/10.1016/..
?
6
Spinocerebellar ataxia 27B: a frequent and slowly progressi..:
Satolli, Sara
;
Rossi, Salvatore
;
Vegezzi, Elisa
...
Journal of Neurology. , 2024
Link:
https://doi.org/10.1007/..
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7
Neurological disorders caused by novel non-coding repeat ex..:
Vegezzi, Elisa
;
Ishiura, Hiroyuki
;
Bragg, D Cristopher
...
The Lancet Neurology. 23 (2024) 7 - p. 725-739 , 2024
Link:
https://doi.org/10.1016/..
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8
Spinocerebellar ataxia 27B: A novel, frequent and potential..:
Pellerin, David
;
Danzi, Matt C.
;
Renaud, Mathilde
...
Clinical and Translational Medicine. 14 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1002/..
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9
Bi-allelic variants in RINT1 present as early-onset pure he..:
Quiroz, Vicente
;
Planas-Serra, Laura
;
Sveden, Abigail
...
Journal of Clinical Investigation. , 2024
Link:
https://doi.org/10.1172/..
?
10
A recurrent missense variant in ITPR3 causes demyelinating ..:
Beijer, Danique
;
Dohrn, Maike F
;
Rebelo, Adriana
...
Brain. , 2024
Link:
https://doi.org/10.1093/..
?
11
The FGF14GAA repeat expansion in Greek patients with late‐o..:
Kartanou, Chrisoula
;
Mitrousias, Alexandros
;
Pellerin, David
...
Clinical Genetics. 105 (2024) 4 - p. 446-452 , 2024
Link:
https://doi.org/10.1111/..
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12
Additional file 1 of RExPRT: a machine learning tool to pre..:
Sarah Fazal
;
Matt C. Danzi
;
Isaac Xu
...
doi:10.6084/m9.figshare.25123993.v1. , 2024
Link:
https://doi.org/10.6084/..
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13
Additional file 1 of RExPRT: a machine learning tool to pre..:
Sarah Fazal
;
Matt C. Danzi
;
Isaac Xu
...
doi:10.6084/m9.figshare.25123993.v1. , 2024
Link:
https://doi.org/10.6084/..
?
14
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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15
Standards of NGS Data Sharing and Analysis in Ataxias: Reco..:
Beijer, Danique
;
Fogel, Brent L.
;
Beltran, Sergi
...
The Cerebellum. 23 (2023) 2 - p. 391-400 , 2023
Link:
https://doi.org/10.1007/..
1-15