Neurofibromatose de type 1 et formes variantes

Autor: P. Combemale, L. Lion-François, S. Pinson

Publikováno v: Annales de Dermatologie et de Vénéréologie - FMC. 2:362-375

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cebd8b2d7fea0657e1800d06b23f24cf
https://doi.org/10.1016/j.fander.2022.01.005

Normal intellectual skills in patients with Rhombencephalosynapsis

Autor: L. Lion-François, Juan Velazquez-Dominguez, L. Guibaud, Christelle Rougeot-Jung, Hélène Laurichesse Delmas, Emeline Peyric, Vincent des Portes, Massimiliano Rossi, Mona Massoud, Marie-France Bonnetain, O. Revol, Catherine Sarret, Anne Miret

Publikováno v: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, 2020, 29, pp.92-100. ⟨10.1016/j.ejpn.2020.09.007⟩
European Journal of Paediatric Neurology, Elsevier, 2020, 29, pp.92-100. ⟨10.1016/j.ejpn.2020.09.007⟩

Objectives Rhombencephalosynapsis (RES) is a very rare cerebellar malformation. Neurodevelopmental outcome of apparently isolated RES remains poorly documented and standardized cognitive assessment, reported in only nine published cases so far, is la

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::153e00d3aff3aa7921713468fe2984f3
https://hal.science/hal-03124493

Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients

Autor: Magalie Barth, S. Fournier-Favre, Sandrine Roche, M. A. Spitz, P. de Lonlay, Bénédicte Héron, Mathieu Milh, H. Testard, Sylvia Napuri, Christine Vianey-Saban, L. Lion-François, Laurence Christa, C. Corne, Agathe Roubertie, M. A. Nguyen

Publikováno v: JIMD Reports ISBN: 9783662541180

Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive inborn error of metabolism, affecting catecholamines and serotonin biosynthesis. Cardinal signs consist in psychomotor delay, hypotonia, oculogyric crises, dystonia, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd7bc958c10252489e05d0be66826e91
https://doi.org/10.1007/8904_2016_550

Developmental trajectories of 31 French Creatine Transporter Deficiency (SLC6A8) patients: New insights into outcome measures selection

Autor: L. Roche, A. Brun-Laurisse, A. Curie, V. Valayannopoulos, M. Gavanon, Brigitte Chabrol, Behrouz Kassai, P. Roy, P. de Lonlay, David Cheillan, H. Halep, M.P. Reymond, L. Lion-François, Nathalie Perreton, Nathalie Touil, Catherine Mercier, Anaïs Brassier, V. des Portes

Publikováno v: European Journal of Paediatric Neurology. 21:e64-e65

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::48e7629c11f3e01fec9461729858a87d
https://doi.org/10.1016/j.ejpn.2017.04.933

Hémiparésie aiguë révélatrice d’une neuroborréliose chronique chez un enfant

Autor: L. Guibaud, C. Roure-Sobas, V. des Portes, L. Lion-François, S. Marignier, C. Rénard, Y. Gillet

Publikováno v: Archives de Pédiatrie. 15:41-44

Resume Nous rapportons le cas d’un garcon de 11 ans qui a presente 2 episodes d’hemiparesie droite en 1 mois revelant une maladie de Lyme. Depuis 1 an, il se plaignait d’asthenie et de cephalees. Le diagnostic de neuroborreliose a ete porte mal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::54dab8d6afe6617bdd9888967b8b0af5
https://doi.org/10.1016/j.arcped.2007.10.008