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Page 1
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: louha m. 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
Molecular diagnosis of genetic deafness.
Jonard L, Marlin S, Louha M, Bonnet C, Couderc R, Garabedian N, Denoyelle F; all the team of Centre de Référence des Surdités Génétiques, Hôpital Trousseau, APHP, Paris, France. Jonard L, et al. Among authors: louha m. Clin Biochem. 2011 May;44(7):510-511. doi: 10.1016/j.clinbiochem.2011.02.031. Clin Biochem. 2011. PMID: 22036352 No abstract available.
Discovery of a large deletion of KAL1 in 2 deaf brothers.
Marlin S, Chantot-Bastaraud S, David A, Loundon N, Jonard L, Portnoï MF, Bonnet C, Louha M, Gherbi S, Garabedian EN, Couderc R, Denoyelle F. Marlin S, et al. Among authors: louha m. Otol Neurotol. 2013 Dec;34(9):1590-4. doi: 10.1097/MAO.0000000000000228. Otol Neurotol. 2013. PMID: 24232061
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.
Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C. Riahi Z, et al. Among authors: louha m. PLoS One. 2014 Jun 13;9(6):e99797. doi: 10.1371/journal.pone.0099797. eCollection 2014. PLoS One. 2014. PMID: 24926664 Free PMC article.
Benign hereditary chorea, not only chorea: a family case presentation.
Koht J, Løstegaard SO, Wedding I, Vidailhet M, Louha M, Tallaksen CM. Koht J, et al. Among authors: louha m. Cerebellum Ataxias. 2016 Feb 2;3:3. doi: 10.1186/s40673-016-0041-7. eCollection 2016. Cerebellum Ataxias. 2016. PMID: 26839702 Free PMC article.
Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.
Nattes E, Lejeune S, Carsin A, Borie R, Gibertini I, Balinotti J, Nathan N, Marchand-Adam S, Thumerelle C, Fauroux B, Bosdure E, Houdouin V, Delestrain C, Louha M, Couderc R, De Becdelievre A, Fanen P, Funalot B, Crestani B, Deschildre A, Dubus JC, Epaud R. Nattes E, et al. Among authors: louha m. Respir Med. 2017 Aug;129:16-23. doi: 10.1016/j.rmed.2017.05.014. Epub 2017 May 26. Respir Med. 2017. PMID: 28732825 Free article. Clinical Trial.
Monoamine neurotransmitters and movement disorders in children and adults.
Doummar D, Moussa F, Nougues MC, Ravelli C, Louha M, Whalen S, Burglen L, Rodriguez D, Billette de Villemeur T. Doummar D, et al. Among authors: louha m. Rev Neurol (Paris). 2018 Nov;174(9):581-588. doi: 10.1016/j.neurol.2018.07.002. Epub 2018 Aug 27. Rev Neurol (Paris). 2018. PMID: 30166070 Review.
New insights into CC2D2A-related Joubert syndrome.
Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L. Harion M, et al. Among authors: louha m. J Med Genet. 2023 Jun;60(6):578-586. doi: 10.1136/jmg-2022-108754. Epub 2022 Nov 1. J Med Genet. 2023. PMID: 36319078
27 results