Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Laurence Lion François"'
Autor:
Sayaka Kayumi, Luis A. Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García-Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher P. Barnett, Fernando Santos-Simarro, Marta Pacio-Míguez, Angela del Pozo, Somayeh Bakhtiari, Matthew Deardorff, Holly A. Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth J. Bhoj, Dong Li, Xilma R. Ortiz-Gonzalez, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Perez de Nanclares, Arrate Pereda, Isabel Llano-Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin-Robinet, Laurence Faivre, Aurore Garde, Benoit Mazel, Ange-Line Bruel, Michael L. Tress, Eva Brilstra, Amena Smith Fine, Kylie E. Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi C.J. Stevens, Joost Nicolai, Gaetan Lesca, Laurence Lion-François, Damien Haye, Nicolas Chatron, Amelie Piton, Mathilde Nizon, Benjamin Cogne, Siddharth Srivastava, Jennifer Bassetti, Candace Muss, Karen W. Gripp, Rebecca A. Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andres Moreno-De-Luca, Shelagh Joss, Mark J. Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gecz, Mark A. Corbett
Publikováno v:
Genetics in Medicine, 24(11), 2351-2366. Nature Publishing Group
PURPOSE: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP). We investigated the ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39da46305e279508a3404a4fa7b9a021
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
Autor:
Aurélia Poujois, Rodolphe Sobesky, Wassilios G. Meissner, Anne-Sophie Brunet, Emmanuel Broussolle, Chloé Laurencin, Laurence Lion-François, Olivier Guillaud, Alain Lachaux, François Maillot, Jérémie Belin, Ephrem Salamé, Claire Vanlemmens, Bruno Heyd, Céline Bellesme, Dalila Habes, Christophe Bureau, Fabienne Ory-Magne, Pascal Chaine, Jean-Marc Trocello, Daniel Cherqui, Didier Samuel, Victor de Ledinghen, Jean-Charles Duclos-Vallée, France Woimant
Publikováno v:
Neurology
Neurology, American Academy of Neurology, 2020, 94 (21), pp.e2189--e2202. ⟨10.1212/wnl.0000000000009474⟩
Neurology, 2020, 94 (21), pp.e2189--e2202. ⟨10.1212/wnl.0000000000009474⟩
Neurology, American Academy of Neurology, 2020, 94 (21), pp.e2189--e2202. ⟨10.1212/wnl.0000000000009474⟩
Neurology, 2020, 94 (21), pp.e2189--e2202. ⟨10.1212/wnl.0000000000009474⟩
ObjectiveTo evaluate the effect of liver transplantation (LT) in patients with Wilson disease (WD) with severe neurologic worsening resistant to active chelation.MethodsFrench patients with WD who underwent LT for pure neurologic indication were retr
Autor:
Eduardo Couchonnal, Sophie Bouchard, Thomas Damgaard Sandahl, Cecile Pagan, Laurence Lion-François, Olivier Guillaud, Dalila Habes, Dominique Debray, Thierry Lamireau, Pierre Broué, Alexandre Fabre, Claire Vanlemmens, Rodolphe Sobesky, Frederic Gottrand, Laure Bridoux-Henno, Abdelouahed Belmalih, Aurelia Poujois, Corinne Collet, Micheline Misrahi, Bruno Francou, Anne Sophie Brunet, Alain Lachaux, Muriel Bost
Publikováno v:
Couchonnal, E, Bouchard, S, Sandahl, T D, Pagan, C, Lion-François, L, Guillaud, O, Habes, D, Debray, D, Lamireau, T, Broué, P, Fabre, A, Vanlemmens, C, Sobesky, R, Gottrand, F, Bridoux-Henno, L, Belmalih, A, Poujois, A, Brunet, A S, Lachaux, A & Bost, M 2021, ' Corrigendum to "ATP7B variant spectrum in a French pediatric Wilson disease cohort" [Eur. J. Med. Genet. 64(10) (2021) 104305] ', European Journal of Medical Genetics, vol. 64, no. 11, pp. 104341 . https://doi.org/10.1016/j.ejmg.2021.104341
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2021, 64 (11), pp.104341. ⟨10.1016/j.ejmg.2021.104341⟩
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2021, 64 (11), pp.104341. ⟨10.1016/j.ejmg.2021.104341⟩
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a648abc67dca1b7458242e2fc0865d
http://hdl.handle.net/20.500.12278/123774
http://hdl.handle.net/20.500.12278/123774
Autor:
Pierre Broué, Anne Sophie Brunet, Dominique Debray, Alain Lachaux, Muriel Bost, Abdelouahed Belmalih, Thierry Lamireau, Eduardo Couchonnal, Olivier Guillaud, Claire Vanlemmens, Dalila Habes, Frédéric Gottrand, Laurence Lion-François, Aurélia Poujois, Jérôme Dumortier, Emmanuel Jacquemin, Alexandre Fabre, Rodolphe Sobesky, Laure Bridoux-Henno
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2021, ⟨10.1097/mpg.0000000000003196⟩
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2021, ⟨10.1097/mpg.0000000000003196⟩
OBJECTIVES To describe a cohort of Wilson disease (WD) pediatric cases, and to point out the diagnostic particularities of this age group and the long-term outcome. METHODS Clinical data of 182 pediatric patients included in the French WD national re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aab9f3bd34236e7e2308481f18d82264
http://hdl.handle.net/20.500.12278/109258
http://hdl.handle.net/20.500.12278/109258
Autor:
Pauline Garel, Gaetan Lesca, Dorothée Ville, Anne-Lise Poulat, Nicolas Chatron, Damien Sanlaville, Vincent Des Portes, Alexis Arzimanoglou, Laurence Lion-François
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 37
CNTNAP1 encodes CASPR1, involved in the paranodal junction. Thirty-three patients, with CNTNAP1 biallelic mutations have been described previously. Most of them had a very severe neurological impairment and passed away in the first months of life. We
Autor:
Muriel Bost, Vincent Balter, Laurence Lion-François, Abdelouahed Belmalih, Olivier Guillaud, Aline Lamboux, Elisabeth Mintz, Alain Lachaux, Chloé Laurencin, Eduardo Couchonnal-Bedoya, Virginie Brun
Publikováno v:
Metallomics
Metallomics, Royal Society of Chemistry, 2020, 12 (11), pp.1781-1790. ⟨10.1039/d0mt00167h⟩
Metallomics, 2020, 12 (11), pp.1781-1790. ⟨10.1039/d0mt00167h⟩
Metallomics, Royal Society of Chemistry, 2020, 12 (11), pp.1781-1790. ⟨10.1039/d0mt00167h⟩
Metallomics, 2020, 12 (11), pp.1781-1790. ⟨10.1039/d0mt00167h⟩
Wilson disease (WD) is an autosomal recessive disorder of copper (Cu) metabolism. The gene responsible for WD, ATP7B, is involved in the cellular transport of Cu, and mutations in the ATP7B gene induce accumulation of Cu in the liver and ultimately i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1db48ea39519c215c1f861b4537f3286
https://hal.archives-ouvertes.fr/hal-03044206
https://hal.archives-ouvertes.fr/hal-03044206
Autor:
Eduardo Couchonnal, Sophie Bouchard, Thomas Damgaard Sandahl, Cecile Pagan, Laurence Lion-François, Olivier Guillaud, Dalila Habes, Dominique Debray, Thierry Lamireau, Pierre Broué, Alexandre Fabre, Claire Vanlemmens, Rodolphe Sobesky, Frederic Gottrand, Laure Bridoux-Henno, Abdelouahed Belmalih, Aurelia Poujois, Corinne Collet, Bruno Francou, Anne Sophie Brunet, Alain Lachaux, Micheline Misrahi, Muriel Bost
Publikováno v:
European Journal of Medical Genetics. 65:104453
Autor:
Nihr BioResource, F. Lucy Raymond, Shekeeb S. Mohammad, TD Graves, Susan J. Hayflick, Bert B.A. de Vries, Katy Barwick, Conor Fearon, Dora Steel, Mark Hallett, Asif Doja, Emilie Chan Seng, Camilo Toro, Fiona Stewart, Diane Demailly, Suh Young Jeong, Claudio M. de Gusmao, Frédérique Pavillard, Nutan Sharma, Fabienne Cyprien, Juan C Pallais, Brent L. Fogel, David R. FitzPatrick, Lucia Abela, Russell C. Dale, Bettina Balint, Natalie Trump, Michel Tchan, Sony Malhotra, Swasti Pal, Maya Topf, Manju A. Kurian, Michelle Sahagian, Julia Rankin, Laila Selim, Jeff L. Waugh, Sidney Krystal, Gustavo Polo, Caleb Rogers, Michel Mondain, Kailash P. Bhatia, Ishwar C. Verma, Marisela Dy-Hollins, Kelly A. Mills, Derek Wong, Laura Cif, William A. Gahl, Meredith W Allain, Sanaz Attaripour Isfahani, Agathe Roubertie, Jenny L. Wilson, Allison Gregory, Victoria Gonzalez, Carolyn D. Applegate, Nathalie Dorison, Jennifer A. Bassetti, Catherine Blanchet, Ada Hamosh, Deciphering Developmental Disorders Study, Hane Lee, Julien Baleine, Emma L. Baple, Gaetan Lesca, Anna Znaczko, Thomas Roujeau, Mario Sa, Laurence Lion François, Neil Mahant, Diane Doummar, Sandra Jansen, Marie Hully, Christine Coubes, Eva B. Forman, Victor S.C. Fung, Gaëtan Poulen, Raghda Zaitoun, Serena Galosi, Timothy Lynch, Xavier Vasques, Elise Schaefer, Richard Selway, Adeline Ngoh, Tuula Rinne, Philippe Coubes, Elizabeth L. Fieg, Rachel Fox, Jennifer Friedman, Andrea K. Petersen, Hugo Morales-Briceño, Rebecca Signer, Luis Rohena, Sandra Chantot Bastaraud, Chloé Laurencin, Kishore R. Kumar, Julian A. Martinez-Agosto, Ellyn Farrelly, Kathleen M. Gorman, Esther Meyer, Joel B. Krier, Ariane Soldatos, Lydie Burglen, Jean-Pierre Lin, Pierre-François Perrigault, Dolly Zhen, Harutomo Hasegawa, Mary D. King, Alba Sanchis-Juan, David A. Stevenson, Gilles Cambonie, Wui K. Chong, Christophe Milési, Vincent d'Hardemare, John R. Østergaard
Publikováno v:
Cif, L, Demailly, D, Lin, J P, Barwick, K E, Sa, M, Abela, L, Malhotra, S, Chong, W K, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, M W, Applegate, C D, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, J A, Baple, E L, Bhatia, K P, Blanchet, C, Burglen, L, Cambonie, G, Seng, E C, Bastaraud, S C, Cyprien, F, Coubes, C, d'Hardemare, V, Deciphering Developmental Disorders Study, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, M E, Farrelly, E, Fitzpatrick, D R, Fearon, C, Fieg, E L, Fogel, B L, Forman, E B, Fox, R G, Genomics England Research Consortium, Gahl, W A, Galosi, S, Gonzalez, V, Graves, T D, Gregory, A, Hallett, M, Hasegawa, H, Hayflick, S J, Hamosh, A, Hully, M, Jansen, S, Jeong, S Y, Krier, J B, Krystal, S, Kumar, K R, Laurencin, C, Lee, H, Lesca, G, François, L L, Lynch, T, Mahant, N, Martinez-Agosto, J A, Milesi, C, Mills, K A, Mondain, M, Morales-Briceno, H, NIHR BioResource, Ostergaard, J R & Undiagnosed Diseases Network 2020, ' KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation ', Brain : a journal of neurology, vol. 143, no. 11, pp. 3242-3261 . https://doi.org/10.1093/brain/awaa304
Brain
Brain, 143, 3242-3261
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, ⟨10.1093/brain/awaa304⟩
Brain, 143, 11, pp. 3242-3261
Cif, L, Demailly, D, Lin, J-P, Barwick, K E, Sa, M, Abela, L, Malhotra, S, Chong, W K, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, M W, Applegate, C D, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, J A, Baple, E L, Bhatia, K P, Blanchet, C, Burglen, L, Cambonie, G, Seng, E C, Bastaraud, S C, Cyprien, F, Coubes, C, d'Hardemare, V, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, M E, Farrelly, E, Fitzpatrick, D R, Fearon, C, Fieg, E L, Fogel, B L, Forman, E B, Fox, R G, Gahl, W A, Galosi, S, Gonzalez, V, Graves, T D, Gregory, A, Hallett, M, Hasegawa, H & Ostergaard, J R 2020, ' KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation ', Brain : a journal of neurology, vol. 143, no. 11, pp. 3242-3261 . https://doi.org/10.1093/brain/awaa304
Brain
Brain, 143, 3242-3261
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, ⟨10.1093/brain/awaa304⟩
Brain, 143, 11, pp. 3242-3261
Cif, L, Demailly, D, Lin, J-P, Barwick, K E, Sa, M, Abela, L, Malhotra, S, Chong, W K, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, M W, Applegate, C D, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, J A, Baple, E L, Bhatia, K P, Blanchet, C, Burglen, L, Cambonie, G, Seng, E C, Bastaraud, S C, Cyprien, F, Coubes, C, d'Hardemare, V, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, M E, Farrelly, E, Fitzpatrick, D R, Fearon, C, Fieg, E L, Fogel, B L, Forman, E B, Fox, R G, Gahl, W A, Galosi, S, Gonzalez, V, Graves, T D, Gregory, A, Hallett, M, Hasegawa, H & Ostergaard, J R 2020, ' KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation ', Brain : a journal of neurology, vol. 143, no. 11, pp. 3242-3261 . https://doi.org/10.1093/brain/awaa304
Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454b73289249592eb28ef6cf30506835
https://doi.org/10.1093/brain/awaa304
https://doi.org/10.1093/brain/awaa304
Autor:
Jamel Chelly, Cécile Laroche, Aurélie Méneret, Pierre Burbaud, Emmanuelle Ollivier, Marie-Aude Spitz, Cyril Mignot, Matthieu Bereau, Laurence Lion-François, Christine Tranchant, Mathieu Anheim, Emmanuel Roze, Diane Doummar, Laura Cif, Gabrielle Rudolf, Romain Lefaucheur, Stéphanie Bannier, Thomas Wirth, Domitille Gras, Nathalie Drouot, Vincent Laugel, Patrick Nitschke, Ouhaid Lagha-Boukbiza, Boris Keren
Publikováno v:
Parkinsonism and Related Disorders
Parkinsonism and Related Disorders, Elsevier, 2020, 74, pp.50-56. ⟨10.1016/j.parkreldis.2020.04.003⟩
Parkinsonism and Related Disorders, Elsevier, 2020, 74, pp.50-56. ⟨10.1016/j.parkreldis.2020.04.003⟩
A strategy based on targeted gene panel sequencing identifies possibly pathogenic variants in fewer than 20% of cases in early-onset and familial form of dystonia. By using Whole Exome Sequencing (WES), we aimed to identify the missing genetic causes
Autor:
Alicia Chan, Gaele Pitelet, Sarah Sidky, Dwight D. Koeberl, Thierry Billette de Villemeur, K. Mention, Floris C. Hofstede, Declan O'Rourke, Laurence Lion-François, Gajja S. Salomons, Diana Ballhausen, Jose E. Abdenur, Marie-Line Jacquemont, Maria Tassini, David Cheillan, Nathalie Dorison, Miquel Raspall-Chaure, Monique Williams, Jennifer L. Goldstein, Alice Goldenberg, Arnaud Anastasi, Sabrina Buoni, Saadet Mercimek-Andrews, Helen Mundy, Allan M. Lund, Yannay Khaikin
Publikováno v:
European journal of paediatric neurology : EJPN, 22(3), 369-379. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 22(3), 369. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders Ltd
Khaikin, Y, Sidky, S, Abdenur, J, Anastasi, A, Ballhausen, D, Buoni, S, Chan, A, Cheillan, D, Dorison, N, Goldenberg, A, Goldstein, J, Hofstede, F C, Jacquemont, M-L, Koeberl, D D, Lion-Francois, L, Lund, A M, Mention, K, Mundy, H, O'Rourke, D, Pitelet, G, Raspall-Chaure, M, Tassini, M, Billette de Villemeur, T, Williams, M, Salomons, G S & Mercimek-Andrews, S 2018, ' Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study ', European Journal of Paediatric Neurology, vol. 22, no. 3, pp. 369-379 . https://doi.org/10.1016/j.ejpn.2018.02.007
European Journal of Paediatric Neurology, 22(3), 369. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders Ltd
Khaikin, Y, Sidky, S, Abdenur, J, Anastasi, A, Ballhausen, D, Buoni, S, Chan, A, Cheillan, D, Dorison, N, Goldenberg, A, Goldstein, J, Hofstede, F C, Jacquemont, M-L, Koeberl, D D, Lion-Francois, L, Lund, A M, Mention, K, Mundy, H, O'Rourke, D, Pitelet, G, Raspall-Chaure, M, Tassini, M, Billette de Villemeur, T, Williams, M, Salomons, G S & Mercimek-Andrews, S 2018, ' Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study ', European Journal of Paediatric Neurology, vol. 22, no. 3, pp. 369-379 . https://doi.org/10.1016/j.ejpn.2018.02.007
Purpose Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorde