Detalhe da pesquisa
1.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Am J Hum Genet
; 111(4): 761-777, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503299
2.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Nature
; 592(7852): 93-98, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568816
3.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580113
4.
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Genet Mol Biol
; 47(1): e20230285, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488524
5.
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Am J Med Genet A
; 191(9): 2274-2289, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37387251
6.
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Am J Med Genet A
; 188(3): 760-767, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34806811
7.
TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms.
J Med Genet
; 58(3): 213-216, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32332102
8.
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
BMC Pediatr
; 22(1): 492, 2022 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986266
9.
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.
Mov Disord
; 36(9): 2027-2035, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33893680
10.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
11.
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.
Neurogenetics
; 19(2): 123-130, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423566
12.
SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response.
Mov Disord
; 33(10): 1650-1656, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30306626
13.
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Brain
; 140(12): 3112-3127, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29126212
14.
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
Hum Mol Genet
; 24(12): 3497-505, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25788519
15.
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Am J Hum Genet
; 95(6): 698-707, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434003
16.
Epilepsy in mucopolysaccharidosis disorders.
Mol Genet Metab
; 122S: 55-61, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29170080
17.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917586
18.
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
Am J Hum Genet
; 93(1): 118-23, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746551
19.
De novo DNM1 mutations in two cases of epileptic encephalopathy.
Epilepsia
; 57(1): e18-23, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26611353
20.
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Brain
; 137(Pt 1): 69-77, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24355708