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24 results for Vuillaumier,+Sandrine

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GGPS1‐associated muscular dystrophy with and without hearing loss
Author / Creator:Kaiyrzhanov, Rauan ; Perry, Luke ; Rocca, Clarissa ; Zaki, Maha S. ; Hosny, Heba ; Araujo Martins Moreno, Cristiane ; Phadke, Rahul ; Zaharieva, Irina ; Camelo Gontijo, Clara ; Beetz, Christian ; Pini, Veronica ; Movahedinia, Mojtaba ; Zanoteli, Edmar ; DiTroia, Stephanie ; Vuillaumier‐Barrot, Sandrine ; Isapof, Arnaud ; Mehrjardi, Mohammad Yahya Vahidi ; Ghasemi, Nasrin ; Sarkozy, Anna ; Muntoni, Francesco ; Whalen, Sandra ; Vona, Barbara ; Houlden, Henry ; Maroofian, Reza
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2022-09, Vol.9 (9), p.1465-1474
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An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA
Author / Creator:Vuillaumier-Barrot, Sandrine ; Dupré, Thierry ; Andriantsihoarana, Tiffany ; Desportes, Vincent ; Cheillan, David ; Moore, Stuart E. H. ; Chantret, Isabelle
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-02, Vol.20 (1), p.81-8, Article 81
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Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, T...
Author / Creator:Tucker, Elena J. ; Rius, Rocio ; Jaillard, Sylvie ; Bell, Katrina ; Lamont, Phillipa J. ; Travessa, André ; Dupont, Juliette ; Sampaio, Lurdes ; Dulon, Jérôme ; Vuillaumier-Barrot, Sandrine ; Whalen, Sandra ; Isapof, Arnaud ; Stojkovic, Tanya ; Quijano-Roy, Susana ; Robevska, Gorjana ; van den Bergen, Jocelyn ; Hanna, Chloe ; Simpson, Andrea ; Ayers, Katie ; Thorburn, David R. ; Christodoulou, John ; Touraine, Philippe ; Sinclair, Andrew H.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2020-10, Vol.139 (10), p.1325-1343
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Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene
Author / Creator:Clarke, Nigel F ; Maugenre, Svetlana ; Vandebrouck, Aurélie ; Urtizberea, J Andoni ; Willer, Tobias ; Peat, Rachel A ; Gray, Françoise ; Bouchet, Céline ; Manya, Hiroshi ; Vuillaumier-Barrot, Sandrine ; Endo, Tamao ; Chouery, Eliane ; Campbell, Kevin P ; Mégarbané, André ; Guicheney, Pascale
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.452-457
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ETB receptor polymorphism is associated with airway obstruction
Author / Creator:Taillé, Camille ; Guénégou, Armelle ; Almolki, Abdelhamid ; Piperaud, Marie ; Leynaert, Bénédicte ; Vuillaumier, Sandrine ; Neukirch, Françoise ; Boczkowski, Jorge ; Aubier, Michel ; Benessiano, Joëlle ; Crestani, Bruno
Publisher:England: BioMed Central Ltd
Journal title:BMC pulmonary medicine, 2007-04, Vol.7 (1), p.5-5
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Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping
Author / Creator:Vuillaumier-Barrot, Sandrine ; Barnier, Anne ; Cuer, Maryvonne ; Durand, Geneviève ; Grandchamp, Bernard ; Seta, Nathalie
Publisher:New York: John Wiley & Sons, Inc
Journal title:Human mutation, 1999-12, Vol.14 (6), p.543-544
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Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Author / Creator:Witters, Peter ; Honzik, Tomas ; Bauchart, Eric ; Altassan, Ruqaiah ; Pascreau, Tiffany ; Bruneel, Arnaud ; Vuillaumier, Sandrine ; Seta, Nathalie ; Borgel, Delphine ; Matthijs, Gert ; Jaeken, Jaak ; Meersseman, Wouter ; Cassiman, David ; Pascale de, Lonlay ; Morava, Eva
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-05, Vol.21 (5), p.1181-1188
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Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency
Author / Creator:Mochel, Fanny ; Hainque, Elodie ; Gras, Domitille ; Adanyeguh, Isaac M ; Caillet, Samantha ; Héron, Bénédicte ; Roubertie, Agathe ; Kaphan, Elsa ; Valabregue, Romain ; Rinaldi, Daisy ; Vuillaumier, Sandrine ; Schiffmann, Raphael ; Ottolenghi, Chris ; Hogrel, Jean-Yves ; Servais, Laurent ; Roze, Emmanuel
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2016-05, Vol.87 (5), p.550-553
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Dystonic tremor caused by mutation of the glucose transporter gene GLUT1
Author / Creator:Roubergue, Anne ; Apartis, Emmanuelle ; Mesnage, Valérie ; Doummar, Diane ; Trocello, Jean-Marc ; Roze, Emmanuel ; Taieb, Guillaume ; De Villemeur, Thierry Billette ; Vuillaumier-Barrot, Sandrine ; Vidailhet, Marie ; Levy, Richard
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2011-04, Vol.34 (2), p.483-488
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The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic
Author / Creator:Vuillaumier-Barrot, Sandrine ; Le Bizec, Christiane ; Durand, Geneviève ; Seta, Nathalie
Publisher:Tokyo: Springer-Verlag
Journal title:Journal of human genetics, 2001-09, Vol.46 (9), p.547-548
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A new insight into PMM2 mutations in the French population
Author / Creator:Le Bizec, Christiane ; Vuillaumier-Barrot, Sandrine ; Barnier, Anne ; Dupré, Thierry ; Durand, Geneviève ; Seta, Nathalie
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-05, Vol.25 (5), p.504-505
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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
Author / Creator:Schiff, Manuel ; Roda, Céline ; Monin, Marie-Lorraine ; Arion, Alina ; Barth, Magali ; Bednarek, Nathalie ; Bidet, Maud ; Bloch, Catherine ; Boddaert, Nathalie ; Borgel, Delphine ; Brassier, Anaïs ; Brice, Alexis ; Bruneel, Arnaud ; Buissonnière, Roger ; Chabrol, Brigitte ; Chevalier, Marie-Chantal ; Cormier-Daire, Valérie ; De Barace, Claire ; De Maistre, Emmanuel ; De Saint-Martin, Anne ; Dorison, Nathalie ; Drouin-Garraud, Valérie ; Dupré, Thierry ; Echenne, Bernard ; Edery, Patrick ; Feillet, François ; Fontan, Isabelle ; Francannet, Christine ; Labarthe, François ; Gitiaux, Cyril ; Héron, Delphine ; Hully, Marie ; Lamoureux, Sylvie ; Martin-Coignard, Dominique ; Mignot, Cyril ; Morin, Gilles ; Pascreau, Tiffany ; Pincemaille, Olivier ; Polak, Michel ; Roubertie, Agathe ; Thauvin-Robinet, Christel ; Toutain, Annick ; Viot, Géraldine ; Vuillaumier-Barrot, Sandrine ; Seta, Nathalie ; De Lonlay, Pascale
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2017-12, Vol.54 (12), p.843-851
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Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG
Author / Creator:Pajusalu, Sander ; Vals, Mari-Anne ; Serrano, Mercedes ; Witters, Peter ; Cechova, Anna ; Honzik, Tomáš ; Edmondson, Andrew C. ; Ficicioglu, Can ; Barone, Rita ; De Lonlay, Pascale ; Bérat, Claire-Marine ; Vuillaumier-Barrot, Sandrine ; Lam, Christina ; Patterson, Marc C. ; Janssen, Mirian C. H. ; Martins, Esmeralda ; Quelhas, Dulce ; Sykut-Cegielska, Jolanta ; Mousa, Jehan ; Urreizti, Roser ; McWilliams, Peter ; Vernhes, Frederique ; Plotkin, Horacio ; Morava, Eva ; Õunap, Katrin
Publisher:United States: John Wiley & Sons, Inc
Journal title:Human mutation, 2024, Vol.2024 (1), p.8813121
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Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene
Author / Creator:Vuillaumier-Barrot, Sandrine ; Bizec, Christiane Le ; Durand, Geneviève ; Grandchamp, Bernard ; Seta, Nathalie
Publisher:New York: John Wiley & Sons, Inc
Journal title:Human mutation, 2000-05, Vol.15 (5), p.486-486
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Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient
Author / Creator:Vuillaumier-Barrot, Sandrine ; Schiff, Manuel ; Mattioli, Francesca ; Schaefer, Elise ; Dupont, Audrey ; Dancourt, Julia ; Dupré, Thierry ; Couvineau, Alain ; de Baulny, Hélène Ogier ; de Lonlay, Pascale ; Seta, Nathalie ; Moore, Stuart ; Chantret, Isabelle
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2019-02, Vol.85 (3), p.384-389
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A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity
Author / Creator:Sabry, S. ; Vuillaumier-Barrot, S. ; Mintet, E. ; Fasseu, M. ; Valayannopoulos, V. ; Héron, D. ; Dorison, N. ; Mignot, C. ; Seta, N. ; Chantret, I. ; Dupré, T. ; Moore, S. E. H.
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2016-06, Vol.11 (1), p.84-84, Article 84
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Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency
Author / Creator:Anheim, Mathieu ; Maillart, Elisabeth ; Vuillaumier-Barrot, Sandrine ; Flamand-Rouvière, Constance ; Pineau, Fanny ; Ewenczyk, Claire ; Riant, Florence ; Apartis, Emmanuelle ; Roze, Emmanuel
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of neurology, 2011-02, Vol.258 (2), p.316-317
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ETBreceptor polymorphism is associated with airway obstruction
Author / Creator:Taillé, Camille ; Guénégou, Armelle ; Almolki, Abdelhamid ; Piperaud, Marie ; Leynaert, Bénédicte ; Vuillaumier, Sandrine ; Neukirch, Françoise ; Boczkowski, Jorge ; Aubier, Michel ; Benessiano, Joëlle ; Crestani, Bruno
Journal title:BMC pulmonary medicine, 2007-04, Vol.7 (1), Article 5
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ET.sub.B receptor polymorphism is associated with airway obstruction
Author / Creator:Taille, Camille ; Guenegou, Armelle ; Almolki, Abdelhamid ; Piperaud, Marie ; Leynaert, Benedicte ; Vuillaumier, Sandrine ; Neukirch, Francoise ; Boczkowski, Jorge ; Aubier, Michel ; Benessiano, Joelle ; Crestani, Bruno
Publisher:BioMed Central Ltd
Journal title:BMC pulmonary medicine, 2007-04, Vol.7, p.5
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GDP-mannose: GlcNAc2-PP-dolichol mannosyltransferase deficiency (CDG Ik): 5 new patients and 7 novel mutations
Author / Creator:Dupré, Thierry ; Vuillaumier-Barrot, Sandrine ; Chantret, Isabelle ; Sadou Yayé, Hassane ; Le Bizec, Christiane ; Afenjar, Alexandra ; Altuzarra, Cecilia ; Barnérias, Christine ; Burglen, Lydie ; de Lonlay, Pascale ; Feillet, François ; Napuri, Silvia ; Seta, Nathalie ; Moore, Stuart E. H.
Publisher:BMJ Publishing Group
Journal title:Journal of medical genetics, 2010-08, Vol.47 (11)
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Showing 1 to 20 of 24 results

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GGPS1‐associated muscular dystrophy with and without hearing loss

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An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA

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Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, T...

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Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

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ETB receptor polymorphism is associated with airway obstruction

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Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping

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Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

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Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency

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Dystonic tremor caused by mutation of the glucose transporter gene GLUT1

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The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic

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A new insight into PMM2 mutations in the French population

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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

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Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG

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Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene

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Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient

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A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

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Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency

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ETBreceptor polymorphism is associated with airway obstruction

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ET.sub.B receptor polymorphism is associated with airway obstruction

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GDP-mannose: GlcNAc2-PP-dolichol mannosyltransferase deficiency (CDG Ik): 5 new patients and 7 novel mutations

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