Detalhe da pesquisa
1.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477332
2.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet
; 59(4): 377-384, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33737400
3.
Cerebral Palsy in Very Preterm Infants: A Nine-Year Prospective Study in a French Population-Based Tertiary Center.
J Pediatr
; 237: 183-189.e6, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34144033
4.
Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients.
J Pediatr Orthop
; 41(9): 549-558, 2021 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34411042
5.
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Circulation
; 140(4): 293-302, 2019 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155932
6.
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.
Muscle Nerve
; 58(6): 812-817, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30066418
7.
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Muscle Nerve
; 58(2): 224-234, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29624713
8.
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.
Eur Radiol
; 28(12): 5293-5303, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29802573
9.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012042
10.
Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.
Cardiol Young
; 27(6): 1076-1082, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27938454
11.
An Unusual Peak in a Common Clinical Presentation.
Clin Chem
; 67(5): 799-801, 2021 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33928370
12.
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.
Muscle Nerve
; 54(2): 192-202, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26670690
13.
Neuromuscular disorders in the omics era.
Clin Chim Acta
; 553: 117691, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38081447
14.
Ischemic stroke on SARS-CoV2 vasculitis in a healthy young girl.
Health Sci Rep
; 6(1): e1046, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36704422
15.
Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.
Front Cell Dev Biol
; 11: 1142937, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36968203
16.
Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.
J Clin Med
; 11(15)2022 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35893425
17.
Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.
Front Genet
; 13: 955041, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36968005
18.
[The Double degree in Health and Sciences Curriculum at the Rouen Health UFR: Current situation and perspectives]. / Le Double Cursus Santé Sciences à l'UFR Santé de Rouen - États des lieux et perspectives.
Med Sci (Paris)
; 38(8-9): 698-706, 2022.
Artigo
em Francês
| MEDLINE | ID: mdl-36094241
19.
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
J Neurol
; 269(5): 2414-2429, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559299
20.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Genome Med
; 14(1): 62, 2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35698242