Detalhe da pesquisa
1.
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
J Inherit Metab Dis
; 46(1): 66-75, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088537
2.
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Clin Genet
; 102(1): 40-55, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35388452
3.
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Int J Mol Sci
; 23(19)2022 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233161
4.
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
J Inherit Metab Dis
; 43(4): 726-736, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32391929
5.
The impact of gender, puberty, and pregnancy in patients with POLG disease.
Ann Clin Transl Neurol
; 7(10): 2019-2025, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32949115
6.
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.
Neurology
; 95(21): e2866-e2879, 2020 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32913013
7.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
J Clin Med
; 8(1)2019 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30634555
8.
HaNDL syndrome in a 14-year-old girl.
BMJ Case Rep
; 20162016 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26768705
9.
Dr. Google: what about the human papillomavirus vaccine?
Hum Vaccin Immunother
; 9(8): 1712-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23744505
10.
[Tropical spastic paraparesis viewed from an Iberian context. Reply]. / Paraparesia espástica tropical vista desde un contexto ibérico. Réplica.
Rev Neurol
; 62(3): 144, 2016 Feb 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-26815855
11.
[Delusional parasitosis associated to mild cognitive impairment of vascular causation. Good response to low doses of quetiapine]. / Delirio de infestacion asociado a deterioro cognitivo leve de etiologia vascular. Buena respuesta a dosis bajas de quetiapina.
Rev Neurol
; 61(7): 334-5, 2015 Oct 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-26411279