E-LIB Suche - Ergebnisse für: Danzi, Matt C.

1

The genetic landscape and phenotypic spectrum of GAA-FGF14 ..:

Ouyang, Riwei ; Wan, Linlin ; Pellerin, David...
eBioMedicine. 102 (2024) - p. 105077 , 2024

2

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/..

3

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/..

4

Spinocerebellar ataxia 27B: a frequent and slowly progressi..:

Satolli, Sara ; Rossi, Salvatore ; Vegezzi, Elisa...
Journal of Neurology. , 2024

Link: https://doi.org/10.1007/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

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

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/..

12

Biallelic variants in COQ7 cause distal hereditary motor ne..:

Rebelo, Adriana P ; Tomaselli, Pedro J ; Medina, Jessica...
Brain. 146 (2023) 10 - p. 4191-4199 , 2023

Link: https://doi.org/10.1093/..

13

GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural hist..:

Wilke, Carlo ; Pellerin, David ; Mengel, David...
Brain. 146 (2023) 10 - p. 4144-4157 , 2023

Link: https://doi.org/10.1093/..

14

Frequency and phenotypic spectrum of spinocerebellar ataxia..:

Iruzubieta, Pablo ; Pellerin, David ; Bergareche, Alberto...
European Journal of Neurology. 30 (2023) 12 - p. 3828-3833 , 2023

Link: https://doi.org/10.1111/..

15

Spinocerebellar ataxia 27B: episodic symptoms and acetazola..:

Ashton, Catherine ; Indelicato, Elisabetta ; Pellerin, David...
Brain Communications. 5 (2023) 5 - p. , 2023

Link: https://doi.org/10.1093/..