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

by Kim Maincent, Bénédicte Héron, Thierry Billette de Villemeur, Michèle Mayer
Published 2018-11-01

Type 3 Gaucher disease, diagnostic in adulthood

by Charles Detollenaere, Monia Benghergbia, Anaïs Brassier, Thierry Billette de Villemeur, Daniel Amsallem, Marc Berger, Jérôme Stirnemann, Nadia Belmatoug, Christian Rose
Published 2017-12-01

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

by Marie-Christine Rousseau, Thierry Billette de Villemeur, Sherezad Khaldi-Cherif, Catherine Brisse, Agnès Felce, Karine Baumstarck, Pascal Auquier, French Polyhandicap Group
Published 2018-01-01

Single-Step Rapid Diagnosis of Dopamine and Serotonin Metabolism Disorders

by Aurélien Lo, Pierre Guibal, Diane Doummar, Diana Rodriguez, Jean-Yves Hautem, Rémy Couderc, Thierry Billette De Villemeur, Emmanuel Roze, Pierre Chaminade, Fathi Moussa
Published 2017-09-01

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

by Marie-Christine Rousseau, Karine Baumstarck, Sherezad Khaldi-Cherif, Catherine Brisse, Agnès Felce, Benjamin Moheng, Anderson Loundou, Thierry Billette de Villemeur, Pascal Auquier, French Polyhandicap Group
Published 2019-01-01

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

by Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, Christine Serratrice, Roseline Froissart, Catherine Caillaud, Thierry Levade, Leonardo Astudillo, Jacques Serratrice, Anaïs Brassier, Christian Rose, Thierry Billette de Villemeur, Marc G. Berger
Published 2017-02-01

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings

by Tatiana Bremova-Ertl, Tatiana Bremova-Ertl, Raphael Schiffmann, Marc C. Patterson, Marc C. Patterson, Marc C. Patterson, Nadia Belmatoug, Thierry Billette de Villemeur, Stanislavs Bardins, Claudia Frenzel, Claudia Frenzel, Věra Malinová, Silvia Naumann, Juliane Arndt, Eugen Mengel, Jörg Reinke, Ralf Strobl, Ralf Strobl, Michael Strupp, Michael Strupp
Published 2018-01-01

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

by Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic
Published 2019-07-01

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

by Yann Nguyen, Jérôme Stirnemann, Florent Lautredoux, Bérengère Cador, Monia Bengherbia, Karima Yousfi, Dalil Hamroun, Leonardo Astudillo, Thierry Billette de Villemeur, Anaïs Brassier, Fabrice Camou, Florence Dalbies, Dries Dobbelaere, Francis Gaches, Vanessa Leguy-Seguin, Agathe Masseau, Yves-Marie Pers, Samia Pichard, Christine Serratrice, Marc G. Berger, Bruno Fantin, Nadia Belmatoug, on behalf of the French Evaluation of Gaucher Disease Treatment Committee
Published 2020-02-01

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

by Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons
Published 2018-05-01

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

by Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons
Published 2018-10-01

A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease

by Christine Serratrice, Jérôme Stirnemann, Amina Berrahal, Nadia Belmatoug, Fabrice Camou, Catherine Caillaud, Thierry Billette de Villemeur, Florence Dalbies, Bérengère Cador, Roseline Froissart, Agathe Masseau, Anaïs Brassier, Bénédicte Hivert, Laure Swiader, Ivan Bertchansky, Claire de Moreuil, Brigitte Chabrol, Isabelle Durieu, Vanessa Leguy Seguin, Leonardo Astudillo, Sébastien Humbert, Samia Pichard, Catherine Marcel, Isabelle Hau Rainsard, Monia Bengherbia, Karima Yousfi, Marc G. Berger
Published 2020-07-01