Detalhe da pesquisa
1.
Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease.
Genes Immun;
23(2): 66-72, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35264785
2.
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.
Blood;
136(9): 1055-1066, 2020 08 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32518946
3.
We Must Talk about Sex and Focal Dystonia.
Mov Disord;
36(3): 604-608, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33503303
4.
Severe brachial plexopathy secondary to shingles (herpes zoster).
Age Ageing;
50(3): 1001-1003, 2021 05 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33765117
5.
Slowed Luminance Reaction Times in Cervical Dystonia: Disordered Superior Colliculus Processing.
Mov Disord;
35(5): 877-880, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31984559
6.
A Case of Recurrent Painful Ophthalmoplegic Neuropathy with Associated Oculomotor Nerve Tumour.
Neuroophthalmology;
44(1): 28-33, 2020 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32076446
7.
Blood-brain barrier dysfunction in a boxer with chronic traumatic encephalopathy and schizophrenia.
Clin Neuropathol;
38(2): 51-58, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30574863
8.
Exploring the unknown: electrophysiological and behavioural measures of visuospatial learning.
Eur J Neurosci;
43(9): 1128-36, 2016 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26840918
9.
Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype.
J Clin Immunol;
41(5): 1123-1127, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33682069
10.
Sun exposure is an environmental factor for the development of blepharospasm.
J Neurol Neurosurg Psychiatry;
87(4): 420-4, 2016 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25904812
11.
An evaluation of the role of environmental factors in the disease penetrance of cervical dystonia.
J Neurol Neurosurg Psychiatry;
86(3): 331-5, 2015 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24963124
12.
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype.
J Clin Immunol;
39(3): 249-256, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30949876
13.
Temporal discrimination, a cervical dystonia endophenotype: penetrance and functional correlates.
Mov Disord;
29(6): 804-11, 2014 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24482092
14.
SGCE mutations cause psychiatric disorders: clinical and genetic characterization.
Brain;
136(Pt 1): 294-303, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23365103
15.
The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia.
Mov Disord;
28(13): 1766-74, 2013 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24108447
16.
The premotor syndrome of cervical dystonia: Disordered processing of salient environmental stimuli.
Mov Disord;
33(2): 232-237, 2018 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29205495
17.
Pallidal stimulation for cervical dystonia does not correct abnormal temporal discrimination.
Mov Disord;
28(13): 1874-7, 2013 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23853089
18.
Social cognition in cervical dystonia.
Clin Park Relat Disord;
9: 100217, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37711968
19.
Practice does not make perfect: Temporal discrimination in musicians with and without dystonia.
Mov Disord;
32(12): 1791-1792, 2017 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29076564
20.
Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.
Brain;
134(Pt 9): 2656-63, 2011 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21840890