Mortality in French people with polyhandicap/profound intellectual and multiple disabilities
Hamouda, I., Baumstarck, K., Aim, M.‐A., Beltran Anzola, A., Loundou, A., Billette de Villemeur, T., Boyer, L., Auquier, P., Rousseau, M.‐C.
Published in Journal of intellectual disability research (01.08.2024)
Published in Journal of intellectual disability research (01.08.2024)
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Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients
Chérot, E., Keren, B., Dubourg, C., Carré, W., Fradin, M., Lavillaureix, A., Afenjar, A., Burglen, L., Whalen, S., Charles, P., Marey, I., Heide, S., Jacquette, A., Heron, D., Doummar, D., Rodriguez, D., Billette de Villemeur, T., Moutard, M.‐L., Guët, A., Xavier, J., Périsse, D., Cohen, D., Demurger, F., Quélin, C., Depienne, C., Odent, S., Nava, C., David, V., Pasquier, L., Mignot, C.
Published in Clinical genetics (01.03.2018)
Published in Clinical genetics (01.03.2018)
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Health issues in polyhandicapped patients according to age: Results of a large French cross-sectional study
Rousseau, M.-C., Baumstarck, K., Khaldi-Cherif, N., Felce, A., Valkov, M., Brisse, C., Loundou, A., Auquier, P., Billette de Villemeur, T.
Published in Revue neurologique (01.05.2020)
Published in Revue neurologique (01.05.2020)
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Journal Article
Development and initial validation of the polyhandicap severity scale
Rousseau, M.-C., Baumstarck, K., Hamouda, I., Valkov, M., Felce, A., Khaldi-Cherif, S., Brisse, C., Loundou, A., Auquier, P., Billette de Villemeur, T.
Published in Revue neurologique (01.06.2021)
Published in Revue neurologique (01.06.2021)
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Health characteristics and health care trajectory of polyhandicaped person before and after 1990
Rousseau, M.-C., Baumstarck, K., Auquier, P., Billette de Villemeur, T.
Published in Revue neurologique (01.01.2020)
Published in Revue neurologique (01.01.2020)
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Journal Article
GLUT1 deficiency syndrome: An update
Gras, D., Roze, E., Caillet, S., Méneret, A., Doummar, D., Billette de Villemeur, T., Vidailhet, M., Mochel, F.
Published in Revue neurologique (01.02.2014)
Published in Revue neurologique (01.02.2014)
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Clinical characteristics of COVID-19 infection in polyhandicapped persons in France
Rousseau, M.-C., Hully, M., Milh, M., Juzeau, D., Pollez, B., Peudenier, S., Bahi Buisson, N., Gautheron, V., Chabrol, B., Billette de Villemeur, T.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.07.2021)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.07.2021)
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Monoamine neurotransmitters and movement disorders in children and adults
Doummar, D., Moussa, F., Nougues, M.-C., Ravelli, C., Louha, M., Whalen, S., Burglen, L., Rodriguez, D., Billette de Villemeur, T.
Published in Revue neurologique (01.11.2018)
Published in Revue neurologique (01.11.2018)
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Neuropsychological evaluation and parental assessment of behavioral and motor difficulties in children with neurofibromatosis type 1
Coutinho, V., Kemlin, I., Dorison, N., Billette de Villemeur, T., Rodriguez, D., Dellatolas, G.
Published in Research in developmental disabilities (01.01.2016)
Published in Research in developmental disabilities (01.01.2016)
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Advances in the metabolic profiling of acidic compounds in children’s urines achieved by comprehensive two-dimensional gas chromatography
Vasquez, N. Pérez, Crosnier de bellaistre-Bonose, M., Lévêque, N., Thioulouse, E., Doummar, D., Billette de Villemeur, T., Rodriguez, D., Couderc, R., Robin, S., Courderot-Masuyer, C., Moussa, F.
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (01.10.2015)
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (01.10.2015)
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The Discrepancy between Performance-Based Measures and Questionnaires when Assessing Clinical Outcomes and Quality of Life in Pediatric Patients with Neurological Disorders
Coutinho, V., Câmara-Costa, H., Kemlin, I., Billette de Villemeur, T., Rodriguez, D., Dellatolas, G.
Published in Applied neuropsychology. Child (02.10.2017)
Published in Applied neuropsychology. Child (02.10.2017)
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Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder
Gérard, M, Morin, G, Bourillon, A, Colson, C, Mathieu, S, Rabier, D, Billette de Villemeur, T, Ogier de Baulny, H, Benoist, J.F
Published in European journal of medical genetics (01.03.2015)
Published in European journal of medical genetics (01.03.2015)
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Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder
Lion-Francois, L, Mignot, C, Vicart, S, Manel, V, Sternberg, D, Landrieu, P, Lesca, G, Broussolle, E, Billette de Villemeur, T, Napuri, S, des Portes, V, Fontaine, B
Published in Neurology (17.08.2010)
Published in Neurology (17.08.2010)
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Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations
Passemard, S, Titomanlio, L, Elmaleh, M, Afenjar, A, Alessandri, J-L, Andria, G, de Villemeur, T Billette, Boespflug-Tanguy, O, Burglen, L, Del Giudice, E, Guimiot, F, Hyon, C, Isidor, B, Mégarbané, A, Moog, U, Odent, S, Hernandez, K, Pouvreau, N, Scala, I, Schaer, M, Gressens, P, Gerard, B, Verloes, Alain
Published in Neurology (22.09.2009)
Published in Neurology (22.09.2009)
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Creutzfeldt-Jakob disease from contaminated growth hormone extracts in France
Billette de Villemeur, T, Deslys, J P, Pradel, A, Soubrié, C, Alpérovitch, A, Tardieu, M, Chaussain, J L, Hauw, J J, Dormont, D, Ruberg, M, Agid, Y
Published in Neurology (01.09.1996)
Published in Neurology (01.09.1996)
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Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum
Ewenczyk, C., Leroux, A., Roubergue, A., Laugel, V., Afenjar, A., Saudubray, J. M., Beauvais, P., de Villemeur, T. Billette, Vidailhet, M., Roze, E.
Published in Brain (London, England : 1878) (01.03.2008)
Published in Brain (London, England : 1878) (01.03.2008)
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Perinatal-lethal Gaucher disease
Mignot, C., Gelot, A., Bessières, B., Daffos, F., Voyer, M., Menez, F., Fallet Bianco, C., Odent, S., Le Duff, D., Loget, P., Fargier, P., Costil, J., Josset, P., Roume, J., Vanier, MT, Maire, I., Billette de Villemeur, T.
Published in American journal of medical genetics. Part A (30.07.2003)
Published in American journal of medical genetics. Part A (30.07.2003)
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A public hearing “Shaken baby syndrome: Guidelines on establishing a robust diagnosis and the procedures to be adopted by healthcare and social services staff”. Guidelines issued by the Hearing Commission
Laurent-Vannier, A, Nathanson, M, Quiriau, F, Briand-Huchet, E, Cook, J, Billette de Villemeur, T, Chazal, J, Christophe, C, Defoort-Dhellemmes, S, Fortin, G, Rambaud, C, Raul, J.S, Rey-Salmon, C, Sottet, F, Vieux, E, Vinchon, M, Willinger, R
Published in Annals of physical and rehabilitation medicine (01.12.2011)
Published in Annals of physical and rehabilitation medicine (01.12.2011)
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