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38 results for Billette+de+Villemeur,+Thierry

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ArticlesPeer ReviewedFull Text
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
Author / Creator:Stirnemann, Jérôme ; Belmatoug, Nadia ; Camou, Fabrice ; Serratrice, Christine ; Froissart, Roseline ; Caillaud, Catherine ; Levade, Thierry ; Astudillo, Leonardo ; Serratrice, Jacques ; Brassier, Anaïs ; Rose, Christian ; Billette de Villemeur, Thierry ; Berger, Marc
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2017-02, Vol.18 (2), p.441-441
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Quality of life in patients with locked-in syndrome: Evolution over a 6-year period
Author / Creator:Rousseau, Marie-Christine ; Baumstarck, Karine ; Alessandrini, Marine ; Blandin, Véronique ; Billette de Villemeur, Thierry ; Auquier, Pascal
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-07, Vol.10 (1), p.88-88, Article 88
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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
Author / Creator:Valence, Stéphanie ; Cochet, Emmanuelle ; Rougeot, Christelle ; Garel, Catherine ; Chantot-Bastaraud, Sandra ; Lainey, Elodie ; Afenjar, Alexandra ; Barthez, Marie-Anne ; Bednarek, Nathalie ; Doummar, Diane ; Faivre, Laurence ; Goizet, Cyril ; Haye, Damien ; Heron, Bénédicte ; Kemlin, Isabelle ; Lacombe, Didier ; Milh, Mathieu ; Moutard, Marie-Laure ; Riant, Florence ; Robin, Stéphanie ; Roubertie, Agathe ; Sarda, Pierre ; Toutain, Annick ; Villard, Laurent ; Ville, Dorothée ; Billette de Villemeur, Thierry ; Rodriguez, Diana ; Burglen, Lydie
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-03, Vol.21 (3), p.553-563
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Health care management adequacy among French persons with severe profound intellectual and multiple disabilities: a longitudinal study
Author / Creator:Baumstarck, Karine ; Hamouda, Ilyes ; Aim, Marie-Anastasie ; Anzola, Any Beltran ; Khaldi-Cherif, Sherezad ; Felce, Agnès ; Maincent, Kim ; Lind, Katia ; Auquier, Pascal ; Billette de Villemeur, Thierry ; Rousseau, Marie-Christine ; Boutalbi, Narjess ; Dany, Lionel ; Heng, Ponha ; Julien, Patrick ; Kemlin, Isabelle ; Lenormand, Stéphane ; Pietra, Stéphane ; Roger, Julie ; Valkov, Maria ; Willocq, Daniel
Publisher:England: BioMed Central Ltd
Journal title:BMC health services research, 2024-01, Vol.24 (1), p.99-99, Article 99
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Adequacy of care management of patients with polyhandicap in the French health system: A study of 782 patients
Author / Creator:Rousseau, Marie-Christine ; Billette de Villemeur, Thierry ; Khaldi-Cherif, Sherezad ; Brisse, Catherine ; Felce, Agnès ; Baumstarck, Karine ; Auquier, Pascal
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-07, Vol.13 (7), p.e0199986-e0199986
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Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses
Author / Creator:Maincent, Kim ; Héron, Bénédicte ; Billette de Villemeur, Thierry ; Mayer, Michèle
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-11, Vol.13 (1), p.209-209, Article 209
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Impact of severe polyhandicap on parents’ quality of life: A large French cross-sectional study
Author / Creator:Rousseau, Marie-Christine ; Baumstarck, Karine ; Khaldi-Cherif, Sherezad ; Brisse, Catherine ; Felce, Agnès ; Moheng, Benjamin ; Loundou, Anderson ; Billette de Villemeur, Thierry ; Auquier, Pascal
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-02, Vol.14 (2), p.e0211640-e0211640
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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
Author / Creator:Gonçalves, Sara ; Patat, Julie ; Guida, Maria Clara ; Lachaussée, Noelle ; Arrondel, Christelle ; Helmstädter, Martin ; Boyer, Olivia ; Gribouval, Olivier ; Gubler, Marie-Claire ; Mollet, Geraldine ; Rio, Marlène ; Charbit, Marina ; Bole-Feysot, Christine ; Nitschke, Patrick ; Huber, Tobias B. ; Wheeler, Patricia G. ; Haynes, Devon ; Juusola, Jane ; Billette de Villemeur, Thierry ; Nava, Caroline ; Afenjar, Alexandra ; Keren, Boris ; Bodmer, Rolf ; Antignac, Corinne ; Simons, Matias
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2018-05, Vol.14 (5), p.e1007386-e1007386
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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Author / Creator:Burglen, Lydie ; Chantot-Bastaraud, Sandra ; Garel, Catherine ; Milh, Mathieu ; Touraine, Renaud ; Zanni, Ginevra ; Petit, Florence ; Afenjar, Alexandra ; Goizet, Cyril ; Barresi, Sabina ; Coussement, Aurélie ; Ioos, Christine ; Lazaro, Leila ; Joriot, Sylvie ; Desguerre, Isabelle ; Lacombe, Didier ; des Portes, Vincent ; Bertini, Enrico ; Siffroi, Jean-Pierre ; Billette de Villemeur, Thierry ; Rodriguez, Diana
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-03, Vol.7 (1), p.18-18
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ArticlesPeer ReviewedFull Text
Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency
Author / Creator:Casrouge, Armanda ; Zhang, Shen-Ying ; Eidenschenk, Céline ; Jouanguy, Emmanuelle ; Puel, Anne ; Yang, Kun ; Alcais, Alexandre ; Picard, Capucine ; Mahfoufi, Nora ; Nicolas, Nathalie ; Lorenzo, Lazaro ; Plancoulaine, Sabine ; Sénéchal, Brigitte ; Geissmann, Frédéric ; Tabeta, Koichi ; Hoebe, Kasper ; Du, Xin ; Miller, Richard L ; Héron, Bénédicte ; Mignot, Cyril ; Villemeur, Thierry Billette de ; Lebon, Pierre ; Dulac, Olivier ; Rozenberg, Flore ; Beutler, Bruce ; Tardieu, Marc ; Abel, Laurent ; Casanova, Jean-Laurent
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2006-10, Vol.314 (5797), p.308-312
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Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations
Author / Creator:Cameron, Jillian M. ; Maljevic, Snezana ; Nair, Umesh ; Aung, Ye Htet ; Cogné, Benjamin ; Bézieau, Stéphane ; Blair, Edward ; Isidor, Bertrand ; Zweier, Christiane ; Reis, André ; Koenig, Mary Kay ; Maarup, Timothy ; Sarco, Dean ; Afenjar, Alexandra ; Huq, A. H. M. Mahbubul ; Kukolich, Mary ; Billette de Villemeur, Thierry ; Nava, Caroline ; Héron, Bénédicte ; Petrou, Steven ; Berkovic, Samuel F.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-07, Vol.6 (7), p.1263-1272
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Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
Author / Creator:Gonçalves, Sara ; Patat, Julie ; Guida, Maria Clara ; Lachaussée, Noelle ; Arrondel, Christelle ; Helmstädter, Martin ; Boyer, Olivia ; Gribouval, Olivier ; Gubler, Marie-Claire ; Mollet, Geraldine ; Rio, Marlène ; Charbit, Marina ; Bole-Feysot, Christine ; Nitschke, Patrick ; Huber, Tobias B. ; Wheeler, Patricia G. ; Haynes, Devon ; Juusola, Jane ; Villemeur, Thierry Billette de ; Nava, Caroline ; Afenjar, Alexandra ; Keren, Boris ; Bodmer, Rolf ; Antignac, Corinne ; Simons, Matias
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2018-10, Vol.14 (10), p.e1007748-e1007748
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Astrocytic Demise in the Developing Rat and Human Brain after Hypoxic-Ischemic Damage
Author / Creator:Gelot, Antoinette ; Villapol, S. ; Billette de Villemeur, Thierry ; Renolleau, Sylvain ; Charriaut-Marlangue, Christiane
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Developmental neuroscience, 2009-01, Vol.31 (5), p.459-470
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Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome
Author / Creator:Hainque, Elodie ; Meneret, Aurélie ; Gras, Domitille ; Atencio, Mariana ; Luton, Marie-Pierre ; Barbier, Magali ; De Saint Martin, Anne ; Billette de Villemeur, Thierry ; Ottolenghi, Chris ; Roze, Emmanuel ; Mochel, Fanny
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2020-04, Vol.91 (4), p.444-445
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Health status of individuals with polyhandicap across a 5-year follow-up period
Author / Creator:Rousseau, Marie-Christine ; Hamouda, Ilyes ; Aim, Marie-Anastasie ; Anzola, Any Beltran ; Maincent, Kim ; Lind, Katia ; Felce, Agnès ; Auquier, Pascal ; De Villemeur, Thierry Billette ; Baumstarck, Karine
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-10, Vol.14 (1), p.23197-10, Article 23197
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Effects of sphingolipids overload on red blood cell properties in Gaucher disease
Author / Creator:Dupuis, Lucie ; Chipeaux, Caroline ; Bourdelier, Emmanuelle ; Martino, Suella ; Reihani, Nelly ; Belmatoug, Nadia ; Billette de Villemeur, Thierry ; Hivert, Bénédicte ; Moussa, Fathi ; Le Van Kim, Caroline ; Person, Marine ; Franco, Mélanie
Publisher:England: John Wiley & Sons, Inc
Journal title:Journal of cellular and molecular medicine, 2020-09, Vol.24 (17), p.9726-9736
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The French EVAL-PLH cohort of persons with polyhandicap
Author / Creator:Hamouda, Ilyes ; Rousseau, Marie-Christine ; Beltran Anzola, Any ; Aim, Marie-Anastasie ; de Villemeur, Thierry Billette ; Auquier, Pascal ; Baumstarck, Karine
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-07, Vol.12 (1), p.12512-12512, Article 12512
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Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study
Author / Creator:Aim, Marie‐Anastasie ; Rousseau, Marie‐Christine ; Hamouda, Ilyes ; Anzola, Any Beltran ; Villemeur, Thierry Billette ; Milh, Mathieu ; Maincent, Kim ; Lind, Katia ; Auquier, Pascal ; Baumstarck, Karine ; Dany, Lionel
Publisher:England: John Wiley & Sons, Inc
Journal title:Health expectations : an international journal of public participation in health care and health policy, 2024-02, Vol.27 (1), p.e13910-n/a
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The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers
Author / Creator:Haut, Sandrine ; Villemeur, Thierry Billette de ; Brivet, Michèle ; Guiochon-Mantel, Anne ; Boutron, Audrey ; Rustin, Pierre ; Legrand, Alain ; Slama, Abdelhamid
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2004-03, Vol.12 (3), p.220-224
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Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry
Author / Creator:Nguyen, Yann ; Stirnemann, Jérôme ; Lautredoux, Florent ; Cador, Bérengère ; Bengherbia, Monia ; Yousfi, Karima ; Hamroun, Dalil ; Astudillo, Leonardo ; Billette de Villemeur, Thierry ; Brassier, Anaïs ; Camou, Fabrice ; Dalbies, Florence ; Dobbelaere, Dries ; Gaches, Francis ; Leguy-Seguin, Vanessa ; Masseau, Agathe ; Pers, Yves-Marie ; Pichard, Samia ; Serratrice, Christine ; Berger, Marc G. ; Fantin, Bruno ; Belmatoug, Nadia
Publisher:Switzerland: MDPI
Journal title:International journal of molecular sciences, 2020-02, Vol.21 (4), p.1247
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A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

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Quality of life in patients with locked-in syndrome: Evolution over a 6-year period

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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

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Health care management adequacy among French persons with severe profound intellectual and multiple disabilities: a longitudinal study

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Adequacy of care management of patients with polyhandicap in the French health system: A study of 782 patients

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Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses

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Impact of severe polyhandicap on parents’ quality of life: A large French cross-sectional study

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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

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Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency

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Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

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Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

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Astrocytic Demise in the Developing Rat and Human Brain after Hypoxic-Ischemic Damage

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Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome

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Health status of individuals with polyhandicap across a 5-year follow-up period

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Effects of sphingolipids overload on red blood cell properties in Gaucher disease

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The French EVAL-PLH cohort of persons with polyhandicap

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Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study

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The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers

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Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry

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