Detalhe da pesquisa
1.
Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
Am J Med Genet A
; : e63578, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425142
2.
CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
Mol Genet Metab
; 140(4): 107713, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37922835
3.
Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder.
Mult Scler
; 29(7): 892-897, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37227101
4.
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.
Hum Mutat
; 43(7): 869-876, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332613
5.
Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB.
Mol Genet Metab
; 133(2): 193-200, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33962822
6.
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
Am J Med Genet A
; 182(3): 557-560, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833174
7.
Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders.
Pediatr Neurol
; 150: 17-23, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37939453
8.
Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings
Neurol Neuroimmunol Neuroinflamm
; 11(2): e200194, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181317
9.
Pearls & Oy-sters: CSF1R-Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis.
Neurology
; 101(11): e1178-e1181, 2023 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407261
10.
Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series.
Pediatr Neurol
; 142: 47-50, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36907087
11.
Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review.
Brain Sci
; 13(7)2023 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37508961
12.
Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction.
Clin Case Rep
; 10(2): e05277, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35169466
13.
Editorial commentary on "Gait phenotype in Batten disease: A marker of disease progression".
Eur J Paediatr Neurol
; 35: A2, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34844861
14.
Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy.
Pediatr Pulmonol
; 56(4): 710-720, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32886442
15.
Emerging Subspecialties in Neurology: Neurodevelopmental disabilities.
Neurology
; 95(24): 1113-1115, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817183