受强制性开放获取政策约束的文章 - nathalie seta了解详情
无法在其他位置公开访问的文章：5 篇
Guanosine diphosphate-mannose: GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
T Dupré, S Vuillaumier-Barrot, I Chantret, HS Yayé, C Le Bizec, A Afenjar, ...
Journal of medical genetics 47 (11), 729-735, 2010
强制性开放获取政策： National Institute of Health and Medical Research, France
Long term outcome of MPI‐CDG patients on D‐mannose therapy
M Girard, C Douillard, D Debray, F Lacaille, M Schiff, S Vuillaumier‐Barrot, ...
Journal of Inherited Metabolic Disease 43 (6), 1360-1369, 2020
强制性开放获取政策： European Commission, Agence Nationale de la Recherche
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies
W Haouari, J Dubail, S Lounis‐Ouaras, P Prada, R Bennani, C Roseau, ...
Journal of Inherited Metabolic Disease 43 (6), 1349-1359, 2020
强制性开放获取政策： European Commission, Agence Nationale de la Recherche
Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC)
S Vuillaumier-Barrot, E Panagiotakaki, C Le Bizec, C El Baba, B Fontaine, ...
Neuropediatrics 41 (06), 267-269, 2010
强制性开放获取政策： National Institute of Health and Medical Research, France
Two novel homozygous mutations in phosphoglucomutase 3 leading to severe combined immunodeficiency, skeletal dysplasia, and malformations
M Fusaro, A Vincent, M Castelle, J Rosain, B Fournier, M Veiga-da-Cunha, ...
Journal of clinical immunology 41, 958-966, 2021
强制性开放获取政策： National Fund for Scientific Research, Belgium, Agence Nationale de la Recherche
可在其他位置公开访问的文章：20 篇
Clinical features and prognostic factors of listeriosis: the MONALISA national prospective cohort study
C Charlier, É Perrodeau, A Leclercq, B Cazenave, B Pilmis, B Henry, ...
The Lancet Infectious Diseases 17 (5), 510-519, 2017
强制性开放获取政策： National Institute of Health and Medical Research, France
Congenital disorders of glycosylation (CDG): Quo vadis?
R Péanne, P De Lonlay, F Foulquier, U Kornak, DJ Lefeber, E Morava, ...
European journal of medical genetics 61 (11), 643-663, 2018
强制性开放获取政策： European Commission
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan
I Gerin, B Ury, I Breloy, C Bouchet-Seraphin, J Bolsée, M Halbout, J Graff, ...
Nature communications 7 (1), 11534, 2016
强制性开放获取政策： National Fund for Scientific Research, Belgium, German Research Foundation
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity
S Sabry, S Vuillaumier-Barrot, E Mintet, M Fasseu, V Valayannopoulos, ...
Orphanet journal of rare diseases 11, 1-14, 2016
强制性开放获取政策： National Institute of Health and Medical Research, France
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
P Witters, T Honzik, E Bauchart, R Altassan, T Pascreau, A Bruneel, ...
Genetics in Medicine 21 (5), 1181-1188, 2019
强制性开放获取政策： Research Foundation (Flanders), Agence Nationale de la Recherche
Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review
EJ Footitt, A Karimova, M Burch, T Yayeh, T Dupre, S Vuillaumier‐Barrot, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009
强制性开放获取政策： National Institute of Health and Medical Research, France
A genome-wide CRISPR-Cas9 screen identifies the dolichol-phosphate mannose synthase complex as a host dependency factor for dengue virus infection
A Labeau, E Simon-Loriere, ML Hafirassou, L Bonnet-Madin, S Tessier, ...
Journal of virology 94 (7), 10.1128/jvi. 01751-19, 2020
强制性开放获取政策： National Institute of Health and Medical Research, France, Agence Nationale …
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype
S Vuillaumier-Barrot, S Quijano-Roy, C Bouchet-Seraphin, S Maugenre, ...
Neuromuscular Disorders 19 (3), 182-188, 2009
强制性开放获取政策： National Institute of Health and Medical Research, France
Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies
H Manya, C Bouchet, A Yanagisawa, S Vuillaumier-Barrot, S Quijano-Roy, ...
Neuromuscular Disorders 18 (1), 45-51, 2008
强制性开放获取政策： National Institute of Health and Medical Research, France
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
M Krahn, V Biancalana, M Cerino, A Perrin, L Michel-Calemard, ...
European Journal of Human Genetics 27 (3), 349-352, 2019
强制性开放获取政策： Fondazione Telethon, Italy
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation
A Yanagisawa, C Bouchet, S Quijano-Roy, S Vuillaumier-Barrot, N Clarke, ...
European journal of medical genetics 52 (4), 201-206, 2009
强制性开放获取政策： National Institute of Health and Medical Research, France
CCDC115-CDG: A new rare and misleading inherited cause of liver disease
M Girard, A Poujois, M Fabre, F Lacaille, D Debray, M Rio, F Fenaille, ...
Molecular Genetics and Metabolism 124 (3), 228-235, 2018
强制性开放获取政策： US National Institutes of Health, European Commission
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
BG Ng, P Sosicka, F Fenaille, A Harroche, S Vuillaumier-Barrot, ...
The American Journal of Human Genetics 108 (6), 1040-1052, 2021
强制性开放获取政策： US National Institutes of Health, European Commission, Agence Nationale de …
Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine …
N Himmelreich, B Dimitrov, V Geiger, M Zielonka, AM Hutter, L Beedgen, ...
Human Mutation 40 (7), 938-951, 2019
强制性开放获取政策： German Research Foundation, European Commission, Federal Ministry of …
Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies
T Pascreau, ME de la Morena‐Barrio, D Lasne, M Serrano, E Bianchini, ...
Journal of Thrombosis and Haemostasis 17 (11), 1798-1807, 2019
强制性开放获取政策： European Commission, Agence Nationale de la Recherche, Government of Spain
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