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Page 1
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L. Valence S, et al. Among authors: kemlin i. Genet Med. 2019 Mar;21(3):553-563. doi: 10.1038/s41436-018-0089-2. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997391 Free article.
Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders.
Flamand-Rouvière C, Guettard E, Moreau C, Bahi-Buisson N, Valayannopoulos V, Grabli D, Motte J, Rodriguez D, Roubertie A, Maintigneux L, Kemlin I, Ceballos-Picot I, Adams D, Vidailhet M, Roze E. Flamand-Rouvière C, et al. Among authors: kemlin i. Mov Disord. 2010 Aug 15;25(11):1605-11. doi: 10.1002/mds.23134. Mov Disord. 2010. PMID: 20629163
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D. Gras D, et al. Among authors: kemlin i. J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):956-62. doi: 10.1136/jnnp-2012-302505. Epub 2012 Jul 24. J Neurol Neurosurg Psychiatry. 2012. PMID: 22832740
Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort.
Blanchard G, Lafforgue MP, Lion-François L, Kemlin I, Rodriguez D, Castelnau P, Carneiro M, Meyer P, Rivier F, Barbarot S, Chaix Y; NF France network. Blanchard G, et al. Among authors: kemlin i. Eur J Paediatr Neurol. 2016 Mar;20(2):275-281. doi: 10.1016/j.ejpn.2015.12.002. Epub 2015 Dec 17. Eur J Paediatr Neurol. 2016. PMID: 26774135 Free article.
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. Coutinho V, et al. Among authors: kemlin i. Appl Neuropsychol Child. 2017 Oct-Dec;6(4):255-261. doi: 10.1080/21622965.2016.1146141. Epub 2016 May 16. Appl Neuropsychol Child. 2017. PMID: 27182681
Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach.
Moscoso A, Julien A, Tanet A, Consoli A, Pagnard M, Trevisan F, Kemlin I, Rodriguez D, Cohen D. Moscoso A, et al. Among authors: kemlin i. Case Rep Psychiatry. 2019 Dec 31;2019:4764031. doi: 10.1155/2019/4764031. eCollection 2019. Case Rep Psychiatry. 2019. PMID: 32089936 Free PMC article.
Implication of folate deficiency in CYP2U1 loss of function.
Pujol C, Legrand A, Parodi L, Thomas P, Mochel F, Saracino D, Coarelli G, Croon M, Popovic M, Valet M, Villain N, Elshafie S, Issa M, Zuily S, Renaud M, Marelli-Tosi C, Legendre M, Trimouille A, Kemlin I, Mathieu S, Gleeson JG, Lamari F, Galatolo D, Alkouri R, Tse C, Rodriguez D, Ewenczyk C, Fellmann F, Kuntzer T, Blond E, El Hachimi KH, Darios F, Seyer A, Gazi AD, Giavalisco P, Perin S, Boucher JL, Le Corre L, Santorelli FM, Goizet C, Zaki MS, Picaud S, Mourier A, Steculorum SM, Mignot C, Durr A, Trifunovic A, Stevanin G. Pujol C, et al. Among authors: kemlin i. J Exp Med. 2021 Nov 1;218(11):e20210846. doi: 10.1084/jem.20210846. Epub 2021 Sep 21. J Exp Med. 2021. PMID: 34546337 Free PMC article.
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, Combemale P, Ferkal S, Vidaud M, Aubourg P, Vidaud D, Wolkenstein P; members of the NF France Network. Sabbagh A, et al. Hum Mol Genet. 2009 Aug 1;18(15):2768-78. doi: 10.1093/hmg/ddp212. Epub 2009 May 5. Hum Mol Genet. 2009. PMID: 19417008 Free PMC article.
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