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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 3
2007 1
2008 1
2009 3
2010 2
2011 1
2012 4
2013 4
2014 4
2015 1
2016 3
2017 5
2018 4
2019 3
2020 7
2021 3
2022 4
2023 2
2024 2

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48 results

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Page 1
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Kayumi S, et al. Among authors: lion francois l. Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083290 Free PMC article.
Cognitive impairment in children with CACNA1A mutations.
Humbertclaude V, Riant F, Krams B, Zimmermann V, Nagot N, Annequin D, Echenne B, Tournier-Lasserve E, Roubertie A; Episodic Syndrome Consortium. Humbertclaude V, et al. Dev Med Child Neurol. 2020 Mar;62(3):330-337. doi: 10.1111/dmcn.14261. Epub 2019 May 21. Dev Med Child Neurol. 2020. PMID: 31115040 Free article.
Normal intellectual skills in patients with Rhombencephalosynapsis.
Bonnetain MF, Rougeot-Jung C, Sarret C, Lion-François L, Revol O, Peyric E, Velazquez-Dominguez J, Miret A, Rossi M, Massoud M, Laurichesse-Delmas H, Guibaud L, des Portes V. Bonnetain MF, et al. Among authors: lion francois l. Eur J Paediatr Neurol. 2020 Nov;29:92-100. doi: 10.1016/j.ejpn.2020.09.007. Epub 2020 Sep 30. Eur J Paediatr Neurol. 2020. PMID: 33046393
CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.
Garel P, Lesca G, Ville D, Poulat AL, Chatron N, Sanlaville D, Des Portes V, Arzimanoglou A, Lion-François L. Garel P, et al. Among authors: lion francois l. Eur J Paediatr Neurol. 2022 Mar;37:98-104. doi: 10.1016/j.ejpn.2022.01.015. Epub 2022 Jan 29. Eur J Paediatr Neurol. 2022. PMID: 35182943
ATP7B variant spectrum in a French pediatric Wilson disease cohort.
Couchonnal E, Bouchard S, Sandahl TD, 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 AS, Lachaux A, Bost M. Couchonnal E, et al. Among authors: lion francois l. Eur J Med Genet. 2021 Oct;64(10):104305. doi: 10.1016/j.ejmg.2021.104305. Epub 2021 Aug 13. Eur J Med Genet. 2021. PMID: 34400371
Increased diagnostic yield in complex dystonia through exome sequencing.
Wirth T, Tranchant C, Drouot N, Keren B, Mignot C, Cif L, Lefaucheur R, Lion-François L, Méneret A, Gras D, Roze E, Laroche C, Burbaud P, Bannier S, Lagha-Boukbiza O, Spitz MA, Laugel V, Bereau M, Ollivier E, Nitschke P, Doummar D, Rudolf G, Anheim M, Chelly J. Wirth T, et al. Among authors: lion francois l. Parkinsonism Relat Disord. 2020 May;74:50-56. doi: 10.1016/j.parkreldis.2020.04.003. Epub 2020 Apr 20. Parkinsonism Relat Disord. 2020. PMID: 32334381
Craniofacial bone alterations in patients with neurofibromatosis type 1.
Chauvel-Picard J, Lion-Francois L, Beuriat PA, Paulus C, Szathmari A, Mottolese C, Gleizal A, Di Rocco F. Chauvel-Picard J, et al. Among authors: lion francois l. Childs Nerv Syst. 2020 Oct;36(10):2391-2399. doi: 10.1007/s00381-020-04749-6. Epub 2020 Jun 25. Childs Nerv Syst. 2020. PMID: 32583151
Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France.
Couchonnal E, Lion-François L, Guillaud O, Habes D, Debray D, Lamireau T, Broué P, Fabre A, Vanlemmens C, Sobesky R, Gottrand F, Bridoux-Henno L, Dumortier J, Belmalih A, Poujois A, Jacquemin E, Brunet AS, Bost M, Lachaux A. Couchonnal E, et al. Among authors: lion francois l. J Pediatr Gastroenterol Nutr. 2021 Oct 1;73(4):e80-e86. doi: 10.1097/MPG.0000000000003196. J Pediatr Gastroenterol Nutr. 2021. PMID: 34091542
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.
Piarroux J, Dimopoulou E, Taieb G, Souvannanorath S, Roze E, Lion-François L, Spitz MA, Broussolle E, Laurencin C, Chanson JB, Belleville-Goffeney J, François-Heude MC, Meyer P, Khalil M, Dereure M, Doummar D, Chevassus H, Apartis E, Roubertie A. Piarroux J, et al. Among authors: lion francois l. Tremor Other Hyperkinet Mov (N Y). 2023 Dec 20;13:46. doi: 10.5334/tohm.803. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 38145278 Free PMC article.
Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1.
Chaix Y, Lauwers-Cancès V, Faure-Marie N, Gentil C, Lelong S, Schweitzer E, Rodriguez D, Iannuzzi S, Kemlin I, Dorison N, Rivier F, Carniero M, Preclaire E, Barbarot S, Lion-François L, Castelnau P. Chaix Y, et al. Among authors: lion francois l. Child Neuropsychol. 2018 May;24(4):558-574. doi: 10.1080/09297049.2017.1313970. Epub 2017 Apr 10. Child Neuropsychol. 2018. PMID: 28393676
48 results