Detalhe da pesquisa
1.
Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
Metab Brain Dis
; 32(6): 2149-2154, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28868593
2.
Genetic findings in adolescent and adult-onset leukodystrophies with hypomyelinating features.
J Neurol Neurosurg Psychiatry
; 90(7): 836-838, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30389777
3.
New Insights in Vanishing White Matter Disease: Isolated Bilateral Optic Neuropathy in Adult-Onset Disease: Response.
J Neuroophthalmol
; 38(4): 571-572, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30157060
4.
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Mol Genet Genomic Med
; 7(9): e914, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31368241
5.
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.
Neurol Genet
; 4(6): e289, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30584594
6.
Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.
Pediatr Neurol
; 100: 97-99, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31262560
7.
Alanyl-tRNA Synthetase 2-Related Dementia with Selective Bilateral Frontal Cystic Leukoencephalopathy.
J Clin Neurol
; 14(3): 420-422, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29971983
8.
Clinico-radiological and genetic features of a common neuro-ichthyotic syndrome.
Indian J Pediatr
; 82(5): 487-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25532748