Detalhe da pesquisa
1.
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Brain
; 142(1): 59-69, 2019 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30561534
2.
Duplication 2p16 is associated with perisylvian polymicrogyria.
Am J Med Genet A
; 179(12): 2343-2356, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31660690
3.
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Ann Neurol
; 81(5): 677-689, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28380698
4.
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
Ann Neurol
; 77(4): 675-83, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25623524
5.
Brivaracetam in Unverricht-Lundborg disease (EPM1): Results from two randomized, double-blind, placebo-controlled studies.
Epilepsia
; 57(2): 210-21, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26666500
6.
The histopathology of polymicrogyria: a series of 71 brain autopsy studies.
Dev Med Child Neurol
; 58(1): 39-48, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26179148
7.
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
Inglês
| MEDLINE | ID: mdl-23297359
8.
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
Inglês
| MEDLINE | ID: mdl-21549341
9.
Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics.
Neurosurg Focus
; 34(6): E6, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23724840
10.
Hypothalamic hamartomas. Part 2. Surgical considerations and outcome.
Neurosurg Focus
; 34(6): E7, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23724841
11.
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
Neurogenetics
; 13(1): 31-47, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22218741
12.
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
J Neurosci
; 30(28): 9612-20, 2010 Jul 14.
Artigo
Inglês
| MEDLINE | ID: mdl-20631190
13.
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Am J Hum Genet
; 82(3): 673-84, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18308289
14.
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Brain
; 133(Pt 5): 1415-27, 2010 May.
Artigo
Inglês
| MEDLINE | ID: mdl-20403963
15.
Neurolathyrism in vapniarka: medical heroism in a concentration Camp.
Can J Neurol Sci
; 38(6): 839-44, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22030420
16.
The effective and ethical use of voluntary induction of psychogenic drop attacks in a patient with idiopathic generalized epilepsy.
Epilepsy Behav
; 17(4): 569-70, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20236869
17.
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Eur J Hum Genet
; 28(6): 783-789, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31919451
18.
Surgery for pharmacoresistant epilepsy in the developing world: A pilot study.
Epilepsia
; 50(5): 1256-61, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19175392
19.
Long-term seizure outcome after corpus callosotomy: a retrospective analysis of 95 patients.
J Neurosurg
; 110(2): 332-42, 2009 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19245287
20.
Small focal cortical dysplasia lesions are located at the bottom of a deep sulcus.
Brain
; 131(Pt 12): 3246-55, 2008 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-18812443