Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-33798445
2.
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
Ann Neurol
; 89(2): 402-407, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33085104
3.
Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis.
Neurobiol Dis
; 156: 105418, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34102276
4.
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Brain
; 140(5): 1267-1279, 2017 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28335020
5.
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.
Neuropediatrics
; 49(4): 256-261, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29801191
6.
Brain inflammation is accompanied by peripheral inflammation in Cstb -/- mice, a model for progressive myoclonus epilepsy.
J Neuroinflammation
; 13(1): 298, 2016 11 28.
Artigo
Inglês
| MEDLINE | ID: mdl-27894304
7.
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1.
Glia
; 63(3): 400-11, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25327891
8.
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Nat Genet
; 37(12): 1309-11, 2005 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16282978
9.
Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes.
Epilepsia Open
; 2024 May 24.
Artigo
Inglês
| MEDLINE | ID: mdl-38785332
10.
Cystatin B deficiency results in sustained histone H3 tail cleavage in postnatal mouse brain mediated by increased chromatin-associated cathepsin L activity.
Front Mol Neurosci
; 15: 1069122, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36533126
11.
Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1.
J Neurosci
; 29(18): 5910-5, 2009 May 06.
Artigo
Inglês
| MEDLINE | ID: mdl-19420257
12.
Development of a genotyping microarray for Usher syndrome.
J Med Genet
; 44(2): 153-60, 2007 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-16963483
13.
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
Eur J Hum Genet
; 15(2): 185-93, 2007 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-17003839
14.
Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing.
Gene
; 366(1): 180-8, 2006 Jan 17.
Artigo
Inglês
| MEDLINE | ID: mdl-16310976
15.
Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia.
PLoS One
; 11(6): e0158195, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27355630
16.
Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study.
Neurology
; 84(15): 1529-36, 2015 Apr 14.
Artigo
Inglês
| MEDLINE | ID: mdl-25770194
17.
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Nat Genet
; 47(1): 39-46, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25401298
18.
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
Eur J Hum Genet
; 10(6): 339-50, 2002 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-12080385
19.
Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation.
PLoS One
; 9(2): e89321, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24586687
20.
Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1.
J Neuropathol Exp Neurol
; 71(1): 40-53, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22157618