Detalhe da pesquisa
1.
Detection of TDP-43 seeding activity in the olfactory mucosa from patients with frontotemporal dementia.
Alzheimers Dement
; 20(2): 1156-1165, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37908186
2.
Adaptive behaviour in adolescents and adults with Dravet syndrome.
Dev Med Child Neurol
; 65(6): 838-846, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36316303
3.
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
Am J Med Genet A
; 188(2): 522-533, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713950
4.
Efficacy and safety of anti-CD45-saporin as conditioning agent for RAG deficiency.
J Allergy Clin Immunol
; 147(1): 309-320.e6, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32387109
5.
The relationship between alexithymia, sensory phenotype and neurophysiological parameters in patients with chronic upper limb neuropathy.
J Neural Transm (Vienna)
; 128(1): 61-71, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33315145
6.
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome.
J Allergy Clin Immunol
; 146(5): 1165-1179.e11, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32311393
7.
Dravet syndrome: Early electroclinical findings and long-term outcome in adolescents and adults.
Epilepsia
; 60 Suppl 3: S49-S58, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31904122
8.
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.
J Allergy Clin Immunol
; 142(3): 928-941.e8, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29241731
9.
Neutrophils drive type I interferon production and autoantibodies in patients with Wiskott-Aldrich syndrome.
J Allergy Clin Immunol
; 142(5): 1605-1617.e4, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29447842
10.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain
; 140(5): 1316-1336, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28379373
11.
IL-10 critically modulates B cell responsiveness in Rankl-/- mice.
J Immunol
; 194(9): 4144-53, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25825446
12.
Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study.
Epilepsia
; 57(11): 1808-1816, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27762437
13.
Contact Sensitization in Children: A Retrospective Study of 2,614 Children from a Single Center.
Pediatr Dermatol
; 33(4): 399-404, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27241536
14.
Patch test results in children and adolescents across Europe. Analysis of the ESSCA Network 2002-2010.
Pediatr Allergy Immunol
; 26(5): 446-55, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25939691
15.
Clinical Remission of Loricrin Keratoderma with Tamoxifen: A Case Report.
Acta Derm Venereol
; 100(16): adv00272, 2020 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32852565
16.
Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome.
J Allergy Clin Immunol
; 133(4): 1116-23, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24332219
17.
Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications.
Blood
; 120(5): 1005-14, 2012 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22723555
18.
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
Epilepsia
; 55(11): 1748-53, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25266480
19.
Refractory tonic-myoclonic status epilepticus with catamenial recurrence in epilepsy with myoclonic atonic seizures: A case report.
Heliyon
; 10(2): e24747, 2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38304836
20.
Autoimmunity in thymic epithelial tumors: a not yet clarified pathologic paradigm associated with several unmet clinical needs.
Front Immunol
; 15: 1288045, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38629065