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1.
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).
Clin Genet
; 102(2): 155-156, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35524423
2.
Induction of a transmissible tau pathology by traumatic brain injury.
Brain
; 141(9): 2685-2699, 2018 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30084913
3.
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.
Front Neurol
; 14: 1296924, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38145127
4.
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.
Genes (Basel)
; 12(5)2021 05 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-34069712
5.
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4.
Front Neurol
; 10: 1331, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-32010037
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