Detalhe da pesquisa
1.
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Genet Med
; 22(1): 53-59, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273341
2.
Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.
Genet Med
; 21(7): 1525-1533, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30523344
3.
Schwannomatosis: a genetic and epidemiological study.
J Neurol Neurosurg Psychiatry
; 89(11): 1215-1219, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909380
4.
A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.
Hum Mol Genet
; 23(1): 247-58, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23962720
5.
Characterization of corticobulbar pharyngeal neurophysiology in dysphagic patients with Parkinson's disease.
Clin Gastroenterol Hepatol
; 12(12): 2037-45.e1-4, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24681075
6.
Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants.
Eur J Hum Genet
; 30(4): 458-464, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35067678
7.
Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.
Laryngoscope
; 129(4): 967-973, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30325044
8.
The SANAD study of effectiveness of carbamazepine, gabapentin, lamotrigine, oxcarbazepine, or topiramate for treatment of partial epilepsy: an unblinded randomised controlled trial.
Lancet
; 369(9566): 1000-15, 2007 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-17382827
9.
The SANAD study of effectiveness of valproate, lamotrigine, or topiramate for generalised and unclassifiable epilepsy: an unblinded randomised controlled trial.
Lancet
; 369(9566): 1016-26, 2007 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-17382828
10.
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.
Brain
; 130(Pt 1): 110-9, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17142829
11.
High-Grade Glioma is not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient.
Neurosurgery
; 83(2): 193-196, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973691
12.
Malignant Peripheral Nerve Sheath Tumors are not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient.
Neurosurgery
; 83(1): 38-42, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973692
13.
Dystonia Associated with Idiopathic Slow Orthostatic Tremor.
Tremor Other Hyperkinet Mov (N Y)
; 5: 351, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26877891
14.
Pramipexole and gender identity disorder: expanding the phenotype of hypersexuality in Parkinson's disease.
Mov Disord
; 24(16): 2434-5, 2009 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19891000
15.
HIV-associated Parkinsonism with levodopa-induced dyskinesia and response to highly-active antiretroviral therapy.
Mov Disord
; 24(16): 2441-2, 2009 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19908326
16.
Randomized clinical trial of topiramate for levodopa-induced dyskinesia in Parkinson's disease.
Parkinsonism Relat Disord
; 20(4): 452-5, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24521874
17.
Topiramate-responsive cerebellar axial postural tremor.
Mov Disord
; 23(8): 1189-91, 2008 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18442113
18.
The effect of gym training on multiple outcomes in Parkinson's disease: a pilot randomised waiting-list controlled trial.
NeuroRehabilitation
; 32(1): 125-34, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23422465
19.
Novel PTEN mutation with leukoencephalopathy, basal ganglia calcification and action tremor.
Parkinsonism Relat Disord
; 28: 163-5, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066848
20.
"Reverse Hoover's sign" demonstrated by neurophysiology in a patient with functional dystonia.
Parkinsonism Relat Disord
; 29: 125-6, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27161826