Detalhe da pesquisa
1.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
2.
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Brain
; 147(4): 1264-1277, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37939785
3.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Am J Hum Genet
; 104(5): 914-924, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982611
4.
Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.
Int J Mol Sci
; 23(3)2022 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163267
5.
The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease.
Mov Disord
; 33(2): 196-207, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315801
6.
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Am J Hum Genet
; 95(6): 729-35, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434005
7.
HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.
Mov Disord
; 29(7): 940-3, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24390816
8.
Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia.
Epilepsia Open
; 8(1): 205-210, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36461712
9.
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
Am J Med Genet A
; 173(3): 820-823, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28168832
10.
Resection of tuber centers only for seizure control in tuberous sclerosis complex.
Epilepsy Res
; 171: 106572, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662678
11.
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.
Ann Clin Transl Neurol
; 8(2): 485-490, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33434304
12.
Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort.
Front Neurol
; 11: 523, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32670181
13.
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.
Neurology
; 95(18): e2542-e2551, 2020 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32847954
14.
Distribution of Parkinson's disease associated RAB39B in mouse brain tissue.
Mol Brain
; 13(1): 52, 2020 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32228644
15.
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Ann Clin Transl Neurol
; 6(7): 1338-1344, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353856
16.
Cytokine receptor signaling through the Jak-Stat-Socs pathway in disease.
Mol Immunol
; 44(10): 2497-506, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17208301
17.
Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line.
Sci Rep
; 8(1): 7528, 2018 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29760428
18.
Constitutive activation of zebrafish Stat5 expands hematopoietic cell populations in vivo.
Exp Hematol
; 34(2): 179-87, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16459186
19.
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Nat Genet
; 49(4): 511-514, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28250454
20.
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels.
J Neurol
; 262(5): 1344-53, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25845763