Detalhe da pesquisa
1.
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
Am J Pathol
; 192(8): 1151-1166, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35605642
2.
Isolation of human fibroadipogenic progenitors and satellite cells from frozen muscle biopsies.
FASEB J
; 35(9): e21819, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405910
3.
High prevalence of paraspinal muscle involvement in adults with McArdle disease.
Muscle Nerve
; 65(5): 568-573, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35174518
4.
Autoantibody screening in Guillain-Barré syndrome.
J Neuroinflammation
; 18(1): 251, 2021 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34719386
5.
Clinical characteristics and outcomes of thymoma-associated myasthenia gravis.
Eur J Neurol
; 28(6): 2083-2091, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33721382
6.
A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
J Peripher Nerv Syst
; 26(1): 113-117, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33320396
7.
Serum neurofilament light chain predicts long-term prognosis in Guillain-Barré syndrome patients.
J Neurol Neurosurg Psychiatry
; 2020 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33154183
8.
Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes.
BMC Musculoskelet Disord
; 21(1): 784, 2020 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33246442
9.
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.
Mol Genet Metab
; 128(1-2): 129-136, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31378569
10.
JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis.
Brain
; 141(6): 1609-1621, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29741608
11.
Platelet-Derived Growth Factor BB Influences Muscle Regeneration in Duchenne Muscle Dystrophy.
Am J Pathol
; 187(8): 1814-1827, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28618254
12.
Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression.
Am J Pathol
; 186(3): 691-700, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26806087
13.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Hum Mutat
; 36(4): 395-402, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604253
14.
Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis.
J Pathol
; 233(3): 258-68, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24604766
15.
Genetic and epigenetic determinants of low dysferlin expression in monocytes.
Hum Mutat
; 35(8): 990-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24838345
16.
Dysferlin regulates cell adhesion in human monocytes.
J Biol Chem
; 288(20): 14147-14157, 2013 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23558685
17.
Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.
J Hum Genet
; 59(8): 465-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24849934
18.
Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy.
Ann Neurol
; 73(3): 370-80, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23280477
19.
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
J Neurol
; 271(2): 986-994, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37907725
20.
Inter-laboratory comparison of routine autoantibody detection methods for autoimmune neuropathies and myasthenia gravis.
J Neurol
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578496