Detalhe da pesquisa
1.
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Hum Mol Genet
; 31(14): 2307-2316, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137044
2.
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Am J Hum Genet
; 108(4): 722-738, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798445
3.
Recognition and epileptology of protracted CLN3 disease.
Epilepsia
; 64(7): 1833-1841, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37039534
4.
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.
Brain
; 145(2): 555-568, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022648
5.
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Brain
; 145(7): 2313-2331, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35786744
6.
SCN1A Variants in vaccine-related febrile seizures: A prospective study.
Ann Neurol
; 87(2): 281-288, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31755124
7.
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Brain
; 142(1): 59-69, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561534
8.
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.
Am J Hum Genet
; 99(2): 423-9, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27453577
9.
Cryo-EM-On-a-Chip: Custom-Designed Substrates for the 3D Analysis of Macromolecules.
Small
; 15(21): e1900918, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30963664
10.
Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.
Epilepsia
; 59(8): e125-e129, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974457
11.
Data Driven Decision Making: A Machine-Vision Approach to Real-Time Data Collection and Analysis for Transmission Electron Microscopy.
Microsc Microanal
; 29(Supplement_1): 2066-2067, 2023 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37612965
12.
Machine Vision Software Enables Normalization of Electron Dose Calibration Between Microscopes and Delivers Accurate Quantifiable Tracking of Electron Dose for In-Situ, Operando, and Dose Sensitive Experiments.
Microsc Microanal
; 29(Supplement_1): 1849-1850, 2023 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37613898
13.
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
Hum Mol Genet
; 24(16): 4483-90, 2015 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25954030
14.
De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.
Epilepsia
; 58(2): e26-e30, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28084635
15.
Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.
Epilepsia
; 58(3): e40-e43, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28098945
16.
Evaluation of non-coding variation in GLUT1 deficiency.
Dev Med Child Neurol
; 58(12): 1295-1302, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27265003
17.
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Hum Mol Genet
; 22(7): 1417-23, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23297359
18.
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
Am J Hum Genet
; 90(6): 1102-7, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22608501
19.
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Am J Hum Genet
; 88(5): 566-73, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549341
20.
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.
Ann Neurol
; 74(3): 496-501, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23686771