Detalhe da pesquisa
1.
Mutations in SCN3A cause early infantile epileptic encephalopathy.
Ann Neurol
; 83(4): 703-717, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29466837
2.
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Ann Neurol
; 82(3): 466-478, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28856709
3.
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Mol Genet Metab
; 120(4): 342-349, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28202214
4.
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Mol Genet Metab
; 120(3): 213-222, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27913098
5.
Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN).
Neurocase
; 22(5): 476-483, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27801611
6.
Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation.
Can J Neurol Sci
; 48(3): 433-434, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32959737
7.
Chorea in the Elderly: A Differential Diagnosis and Case Report of Late-Onset Huntington's Disease in an Octogenarian.
J Huntingtons Dis
; 12(4): 377-380, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38073394
8.
A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia.
Tremor Other Hyperkinet Mov (N Y)
; 13: 24, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37637852
9.
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
Mol Genet Metab
; 107(3): 394-402, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23021068
10.
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.
JIMD Rep
; 48(1): 26-35, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31392110
11.
Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.
Pediatr Clin North Am
; 65(2): 209-230, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29502910
12.
Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.
Pediatr Neurol
; 73: 101-105, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28647130
13.
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
PLoS One
; 10(5): e0127045, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25996915
14.
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.
Mitochondrion
; 14(1): 26-33, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23891656
15.
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
PLoS One
; 10(8): e0137370, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26322789