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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
2025 4
2026 0

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52 results

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Page 1
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).
Curie A, Lion-François L, Valayannopoulos V, Perreton N, Gavanon M, Touil N, Brun-Laurisse A, Gheurbi F, Buchy M, Halep H, Cheillan D, Mercier C, Brassier A, Desnous B, Kassai B, De Lonlay P, Des Portes V. Curie A, et al. Among authors: lion francois l. Neurology. 2024 Apr 23;102(8):e209243. doi: 10.1212/WNL.0000000000209243. Epub 2024 Mar 26. Neurology. 2024. PMID: 38531017
STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia.
Pina D, Roubertie A, Spitz MA, Ravelli C, Bahi-Buisson N, Gheurbi F, Buchy M, Loppinet T, Chemaly-Perin N, Nougues MC, Heron B, Lopez R, Anheim M, Fradin M, Cances C, Avez-Couturier J, Dalmon F, Lesca G, Des Portes V, Lion-François L. Pina D, et al. Among authors: lion francois l. Mov Disord Clin Pract. 2025 Sep;12(9):1367-1373. doi: 10.1002/mdc3.70071. Epub 2025 Apr 7. Mov Disord Clin Pract. 2025. PMID: 40192101 Free PMC article.
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.
Cuinat S, Rollier P, Grand K, Sanchez-Lara PA, Allen-Sharpley M, Levade T, Vanier MT, Lion Francois L, Chemaly N, de Lattre C, Moreau C, Paquot A, Beghyn T, de Masfrand S, Bézieau S, Mercier S, Boespflug-Tanguy O. Cuinat S, et al. Among authors: lion francois l. Neurol Genet. 2025 Feb 26;11(2):e200243. doi: 10.1212/NXG.0000000000200243. eCollection 2025 Apr. Neurol Genet. 2025. PMID: 40017560 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
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
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
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.
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.
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
52 results