Detalhe da pesquisa
1.
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
Hum Mol Genet
; 31(24): 4255-4274, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908287
2.
Conduction slowing, conduction block and temporal dispersion in demyelinating, dysmyelinating and axonal neuropathies: Electrophysiology meets pathology.
J Peripher Nerv Syst
; 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38600691
3.
Successful autologous hematopoietic stem cell transplantation in a refractory anti-Caspr1 antibody nodopathy.
J Peripher Nerv Syst
; 29(1): 116-119, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38123899
4.
First Case of Lethal Encephalitis in Western Europe Due to European Bat Lyssavirus Type 1.
Clin Infect Dis
; 74(3): 461-466, 2022 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991184
5.
New classification of autoimmune neuropathies based on target antigens and involved domains of myelinated fibres.
J Neurol Neurosurg Psychiatry
; 93(1): 57-67, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34373238
6.
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
Neurogenetics
; 22(4): 333-341, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405299
7.
Hereditary neuropathies: A pathological perspective.
J Peripher Nerv Syst
; 26 Suppl 2: S42-S60, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34499384
8.
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.
J Med Genet
; 57(12): 835-842, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32179706
9.
Guillain-Barré syndrome in SARS-CoV-2 infection: an instant systematic review of the first six months of pandemic.
J Neurol Neurosurg Psychiatry
; 91(10): 1105-1110, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32855289
10.
Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health.
PLoS Genet
; 13(4): e1006597, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28376083
11.
Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.
Hum Genet
; 138(5): 455-466, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30955094
12.
Autoimmune nodo-paranodopathies of peripheral nerve: the concept is gaining ground.
J Neurol Neurosurg Psychiatry
; 89(6): 627-635, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29248893
13.
Regulatory T cell frequency, but not plasma IL-33 levels, represents potential immunological biomarker to predict clinical response to intravenous immunoglobulin therapy.
J Neuroinflammation
; 14(1): 58, 2017 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28320438
14.
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
Am J Hum Genet
; 92(2): 271-8, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332920
15.
Diagnosis and treatment of chronic inflammatory demyelinating polyneuropathy: A "grand cru" of updated data.
Eur J Neurol
; 28(11): 3545-3546, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34152068
16.
Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.
J Med Genet
; 52(10): 681-90, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246519
17.
Intravenous immunoglobulin expands regulatory T cells via induction of cyclooxygenase-2-dependent prostaglandin E2 in human dendritic cells.
Blood
; 122(8): 1419-27, 2013 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23847198
18.
Natalizumab as a Disease-Modifying Therapy in Chronic Inflammatory Demyelinating Polyneuropathy - A Report of Three Cases.
Eur Neurol
; 73(5-6): 294-302, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25925430
19.
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
N Engl J Med
; 365(25): 2377-88, 2011 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22187985
20.
The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?
Brain
; 141(9): e70, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30084872