Severe phenotypic spectrum of biallelic mutations in PRRT2 gene
Delcourt, Marion, Riant, Florence, Mancini, Josette, Milh, Mathieu, Navarro, Vincent, Roze, Emmanuel, Humbertclaude, Véronique, Korff, Christian, Des Portes, Vincent, Szepetowski, Pierre, Doummar, Diane, Echenne, Bernard, Quintin, Samuel, Leboucq, Nicolas, Singh Amrathlal, Rabbind, Rochette, Jacques, Roubertie, Agathe
Published in Journal of neurology, neurosurgery and psychiatry (01.07.2015)
Published in Journal of neurology, neurosurgery and psychiatry (01.07.2015)
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Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase
Tuffery-Giraud, Sylvie, Béroud, Christophe, Leturcq, France, Yaou, Rabah Ben, Hamroun, Dalil, Michel-Calemard, Laurence, Moizard, Marie-Pierre, Bernard, Rafaëlle, Cossée, Mireille, Boisseau, Pierre, Blayau, Martine, Creveaux, Isabelle, Guiochon-Mantel, Anne, de Martinville, Bérengère, Philippe, Christophe, Monnier, Nicole, Bieth, Eric, Van Kien, Philippe Khau, Desmet, François-Olivier, Humbertclaude, Véronique, Kaplan, Jean-Claude, Chelly, Jamel, Claustres, Mireille
Published in Human mutation (01.06.2009)
Published in Human mutation (01.06.2009)
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Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants
van den Bergen, Janneke C, Hiller, Monika, Böhringer, Stefan, Vijfhuizen, Linda, Ginjaar, Hendrika B, Chaouch, Amina, Bushby, Kate, Straub, Volker, Scoto, Mariacristina, Cirak, Sebahattin, Humbertclaude, Véronique, Claustres, Mireille, Scotton, Chiara, Passarelli, Chiara, Lochmüller, Hanns, Muntoni, Francesco, Tuffery-Giraud, Sylvie, Ferlini, Alessandra, Aartsma-Rus, Annemieke M, Verschuuren, Jan J G M, 't Hoen, Peter AC, Spitali, Pietro
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2015)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2015)
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Clinical phenotypes of infantile onset CACNA1A-related disorder
Gur-Hartman, Tamar, Berkowitz, Oren, Yosovich, Keren, Roubertie, Agathe, Zanni, Ginevra, Macaya, Alfons, Heimer, Gali, Dueñas, Belén Pérez, Sival, Deborah A., Pode-Shakked, Ben, López-Laso, Eduardo, Humbertclaude, Véronique, Riant, Florence, Bosco, Luca, Cayron, Lital Bachar, Nissenkorn, Andreea, Nicita, Francesco, Bertini, Enrico, Hassin, Sharon, Ben Zeev, Bruria, Zerem, Ayelet, Libzon, Stephanie, Lev, Dorit, Linder, Ilan, Lerman-Sagie, Tally, Blumkin, Lubov
Published in European journal of paediatric neurology (01.01.2021)
Published in European journal of paediatric neurology (01.01.2021)
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Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders
Humbertclaude, Véronique, Krams, Benjamin, Nogue, Erika, Nagot, Nicolas, Annequin, Daniel, Tourniaire, Barbara, Tournier‐Lasserve, Elisabeth, Riant, Florence, Roubertie, Agathe, Echenne, Bernard, Nguyen, Marie‐Ange, Doummar, Diane, Milh, Mathieu, Napuri, Silvia, Lion‐François, Laurence, Tardieu, Marc, Cheuret, Emmanuel, Spitz, Marie‐Aude, Saint Martin, Anne, Dubois, Fanny, Kossorotoff, Manoelle, Sarret, Catherine, Leboucq, Nicolas, Sanchez, Stéphanie, Préclaire, Elodie, Chabrier, Stéphane, Rivier, François, Panagiotakaki, Eleni, Bonnemains, Chrystelle, Walter‐Louvier, Ulrike
Published in Developmental medicine and child neurology (01.12.2018)
Published in Developmental medicine and child neurology (01.12.2018)
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Cognitive impairment in children with CACNA 1A mutations
Humbertclaude, Veronique, Riant, Florence, Krams, Benjamin, Zimmermann, Valerie, Nagot, Nicolas, Annequin, Daniel, Echenne, Bernard, Tournier‐Lasserve, Elisabeth, Roubertie, Agathe
Published in Developmental medicine and child neurology (01.03.2020)
Published in Developmental medicine and child neurology (01.03.2020)
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Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy
Béroud, Christophe, Tuffery-Giraud, Sylvie, Matsuo, Masafumi, Hamroun, Dalil, Humbertclaude, Véronique, Monnier, Nicole, Moizard, Marie-Pierre, Voelckel, Marie-Antoinette, Calemard, Laurence Michel, Boisseau, Pierre, Blayau, Martine, Philippe, Christophe, Cossée, Mireille, Pagès, Michel, Rivier, François, Danos, Olivier, Garcia, Luis, Claustres, Mireille
Published in Human mutation (01.02.2007)
Published in Human mutation (01.02.2007)
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Are Psychiatrists Trained to Address the Mental Health Needs of Young People Transitioning From Child to Adult Services? Insights From a European Survey
Russet, Frederick, Humbertclaude, Veronique, Davidovic Vrljicak, Nikolina, Dieleman, Gwen C, Dodig-Ćurković, Katarina, Franic, Tomislav, Gerritsen, Suzanne E, de Girolamo, Giovanni, Hendrickx, Gaelle, Kerbage, Hala, McNicholas, Fiona, Maras, Athanasios, Paramala, Santosh, Paul, Moli, Schandrin, Aurélie, Schulze, Ulrike M E, Street, Cathy, Tuomainen, Helena, Wolke, Dieter, Singh, Swaran P, Tremmery, Sabine, Purper-Ouakil, Diane
Published in Frontiers in psychiatry (09.02.2022)
Published in Frontiers in psychiatry (09.02.2022)
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Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene
ISHMUKHAMETOVA, Aliya, VAN KIEN, Philippe Khau, MECHIN, Deborah, THOREL, Delphine, VINCENT, Marie-Claire, RIVIER, François, COUBES, Christine, HUMBERTCLAUDE, Véronique, CLAUSTRES, Mireille, TUFFERY-GIRAUD, Sylvie
Published in European journal of human genetics : EJHG (01.10.2012)
Published in European journal of human genetics : EJHG (01.10.2012)
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FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9
Piarroux, Julie, Riant, Florence, Humbertclaude, Véronique, Remerand, Ganaelle, Hadjadj, Jessica, Rejou, Franck, Coubes, Christine, Pinson, Lucile, Meyer, Pierre, Roubertie, Agathe
Published in Annals of clinical and translational neurology (01.04.2020)
Published in Annals of clinical and translational neurology (01.04.2020)
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Journal Article
Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome)
Roubertie, Agathe, Semprino, Marcos, Chaze, Anne Marie, Rivier, François, Humbertclaude, Véronique, Cheminal, Renée, Lefort, Geneviève, Echenne, Bernard
Published in Brain & development (Tokyo. 1979) (01.12.2001)
Published in Brain & development (Tokyo. 1979) (01.12.2001)
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Journal Article
Cognitive impairment in children with CACNA1A mutations
Humbertclaude, Veronique, Riant, Florence, Krams, Benjamin, Zimmermann, Valerie, Nagot, Nicolas, Annequin, Daniel, Echenne, Bernard, Tournier‐Lasserve, Elisabeth, Roubertie, Agathe, Bonnemains, Chrystelle, Chabrier, Stéphane, Cheuret, Emmanuel, Doummar, Diane, Dubois, Fanny, Kossorotoff, Manoelle, Leboucq, Nicolas, Leydet, Julie, Lion‐François, Laurence, Meyer, Pierre, Milh, Mathieu, Napuri, Silvia, Nguyen, Marie‐Ange, Nogue, Erika, Panagiotakaki, Eleni, Préclaire, Elodie, Rivier, François, Saint Martin, Anne, Sanchez, Stéphanie, Sarret, Catherine, Spitz, Marie‐Aude, Tardieu, Marc, Tourniaire, Barbara, Walther‐Louvier, Ulrike
Published in Developmental medicine and child neurology (01.03.2020)
Published in Developmental medicine and child neurology (01.03.2020)
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Journal Article
Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis Syndrome
Caraballo, Roberto, Pavek, Sylvana, Lemainque, Arnaud, Gastaldi, Marguerite, Echenne, Bernard, Motte, Jacques, Genton, Pierre, Cersósimo, Ricardo, Humbertclaude, Véronique, Fejerman, Natalio, Monaco, Anthony P., Lathrop, Mark G., Rochette, Jacques, Szepetowski, Pierre
Published in American journal of human genetics (01.03.2001)
Published in American journal of human genetics (01.03.2001)
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Training of adult psychiatrists and child and adolescent psychiatrists in europe: a systematic review of training characteristics and transition from child/adolescent to adult mental health services
Russet, Frederick, Humbertclaude, Veronique, Dieleman, Gwen, Dodig-Ćurković, Katarina, Hendrickx, Gaelle, Kovač, Vlatka, McNicholas, Fiona, Maras, Athanasios, Paramala, Santosh, Paul, Moli, Schulze, Ulrike M E, Signorini, Giulia, Street, Cathy, Tah, Priya, Tuomainen, Helena, Singh, Swaran P, Tremmery, Sabine, Purper-Ouakil, Diane
Published in BMC medical education (13.06.2019)
Published in BMC medical education (13.06.2019)
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Journal Article
Partial Epilepsy and 47,XXX Karyotype: Report of Four Cases
Roubertie, Agathe, Humbertclaude, Véronique, Leydet, Julie, Lefort, Geneviève, Echenne, Bernard
Published in Pediatric neurology (01.07.2006)
Published in Pediatric neurology (01.07.2006)
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Cryptogenic epilepsies in children: when and how to look for a neurological disorder?
Echenne, Bernard, Roubertie, Agathe, Humbertclaude, Véronique, Rivier, François
Published in Epileptic disorders (01.04.2006)
Published in Epileptic disorders (01.04.2006)
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Journal Article
Cognitive disorders in patients with CACNA1A mutations
Agathe, Roubertie, Véronique, Humbertclaude, Florence, Riant, Valérie, Zimmermann, Benjamin, Krams, Nicolas, Nagot, Diane, Doummar, Erika, Nogue, Elisabeth, Tournier-Lasserve
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance
Humbertclaude, V, Rivier, F, Roubertie, A, Echenne, B, Bellet, H, Vallat, C, Morin, D
Published in Journal of child neurology (01.08.2001)
Published in Journal of child neurology (01.08.2001)
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