Detalhe da pesquisa
1.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis
; 44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677093
2.
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Mol Genet Metab
; 107(3): 409-15, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22980518
3.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Neurology
; 98(9): e912-e923, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35012964
4.
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.
Neuromuscul Disord
; 30(9): 719-726, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32819792
5.
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
J Clin Invest
; 129(3): 1240-1256, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30620337