Detalhe da pesquisa
1.
Early-onset phenotype of bi-allelic GRN mutations.
Brain
; 144(2): e22, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33351065
2.
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.
Neurology
; 93(7): e647-e652, 2019 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337714
3.
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
Neuromuscul Disord
; 28(4): 350-360, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29398297
4.
Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation.
Neurobiol Aging
; 41: 200.e1-200.e5, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27021778