Detalhe da pesquisa
1.
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Mol Genet Metab
; 139(4): 107650, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454519
2.
Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children.
J Pediatr
; 247: 22-28.e2, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577119
3.
Efficacy and tolerance of corticosteroids and methotrexate in patients with juvenile dermatomyositis: a retrospective cohort study.
Rheumatology (Oxford)
; 61(11): 4514-4520, 2022 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35199139
4.
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.
J Med Genet
; 58(11): 737-742, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32928894
5.
JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study.
Rheumatology (Oxford)
; 60(12): 5801-5808, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576769
6.
Cardiac valve involvement in ADAR-related type I interferonopathy.
J Med Genet
; 57(7): 475-478, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31772029
7.
Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling.
Rheumatology (Oxford)
; 59(8): 1927-1937, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31755959
8.
Severe Abdominal Manifestations in Juvenile Dermatomyositis.
J Pediatr Gastroenterol Nutr
; 70(2): 247-251, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31978027
9.
Orofacial motor dysfunction in Moebius syndrome.
Dev Med Child Neurol
; 62(4): 521-527, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31713842
10.
TIF1-gamma IgG2 isotype is not associated with malignancy in juvenile dermatomyositis patients.
Rheumatology (Oxford)
; 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38498839
11.
Cell sorting of various cell types from mouse and human skeletal muscle.
Methods
; 134-135: 50-55, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29269151
12.
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Hum Mutat
; 39(3): 319-332, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29243349
13.
Osteonecrosis in patients with juvenile dermatomyositis: is it associated with anti-MDA5 autoantibody?
Rheumatology (Oxford)
; 62(8): e242-e245, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36592036
14.
Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis.
Rheumatology (Oxford)
; 57(5): 873-879, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474663
15.
Clinical features and evolution of juvenile myasthenia gravis in a French cohort.
Muscle Nerve
; 57(4): 603-609, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28877546
16.
Pathogenesis of cranial neuropathies in Moebius syndrome: Electrodiagnostic orofacial studies.
Muscle Nerve
; 2018 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29424937
17.
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
J Med Genet
; 54(12): 843-851, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28954837
18.
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.
Am J Med Genet A
; 173(3): 706-711, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28168853
19.
Skeletal Muscle Microvasculature: A Highly Dynamic Lifeline.
Physiology (Bethesda)
; 30(6): 417-27, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26525341
20.
Vasculopathy-related clinical and pathological features are associated with severe juvenile dermatomyositis.
Rheumatology (Oxford)
; 55(3): 470-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26424834