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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: camuzat a. 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
Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort.
Samra K, MacDougall AM, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL; Genetic FTD Initiative (GENFI). Samra K, et al. J Neurol Sci. 2023 Aug 15;451:120711. doi: 10.1016/j.jns.2023.120711. Epub 2023 Jun 10. J Neurol Sci. 2023. PMID: 37348248 Free article.
C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.
Lopez-Herdoiza MB, Bauché S, Wilmet B, Le Duigou C, Roussel D, Frah M, Béal J, Devely G, Boluda S, Frick P, Bouteiller D, Dussaud S, Guillabert P, Dalle C, Dumont M, Camuzat A, Saracino D, Barbier M, Bruneteau G, Ravassard P, Neumann M, Nicole S, Le Ber I, Brice A, Latouche M. Lopez-Herdoiza MB, et al. Among authors: camuzat a. Front Cell Neurosci. 2023 Apr 17;17:1155929. doi: 10.3389/fncel.2023.1155929. eCollection 2023. Front Cell Neurosci. 2023. PMID: 37138765 Free PMC article.
125 results