Detalhe da pesquisa
1.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain
; 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38527963
2.
MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.
Brain
; 146(3): 858-864, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36417180
3.
Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.
Neuropediatrics
; 52(4): 302-309, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34192786
4.
Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.
Neuropediatrics
; 49(5): 339-341, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30011403
5.
Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology.
J Appl Genet
; 60(1): 49-56, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30284680
6.
A Case of Progressive Chorea Resulting From GLUT1 Deficiency.
Mov Disord Clin Pract
; 2(4): 424-425, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30363555