1. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. (18th March 2013) Authors: Callier, P; Aral, B; Hanna, N; Lambert, S; Dindy, H; Ragon, C; Payet, M; Collod‐Beroud, G; Carmignac, V; Delrue, MA; Goizet, C; Philip, N; Busa, T; Dulac, Y; Missotte, I; Sznajer, Y; Toutain, A; Francannet, C; Megarbane, A; Julia, S Journal: Clinical genetics Issue: Volume 84:Number 6(2013:Dec.) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. (5th June 2019) Authors: Gauquelin, L; Cayami, FK; Sztriha, L; Yoon, G; Tran, LT; Guerrero, K; Hocke, F; van Spaendonk, RM; Fung, EL; D'Arrigo, S; Vasco, G; Thiffault, I; Niyazov, DM; Person, R; Lewis, KS; Wassmer, E; Prescott, T; Fallon, P; McEntagart, M; Rankin, J Journal: Canadian journal of neurological sciences Issue: Volume 46(2019)Supplement 1 Page Start: S34 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. (June 2019) Authors: Gauquelin, L; Cayami, FK; Sztriha, L; Yoon, G; Tran, LT; Guerrero, K; Hocke, F; van Spaendonk, RM; Fung, EL; D'Arrigo, S; Vasco, G; Thiffault, I; Niyazov, DM; Person, R; Lewis, KS; Wassmer, E; Prescott, T; Fallon, P; McEntagart, M; Rankin, J Journal: Canadian journal of neurological sciences Issue: Volume 46(2019)Supplement 1 Page Start: S34 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. L03 Use and impact of neuroleptics in Huntington's disease: a prospective cohort study of the Huntington French speaking group. (16th November 2010) Authors: Dolbeau, G; Lombard, A; Youssov, K; Dürr, A; Charles, P; Verny, C; Azulay, J-P; Krystkowiak, P; Simonin, C; Tranchant, C; Goizet, C; Damier, P; Supiot, F; Broussolle, E; Démonet, J-F; Marie, R-M; Verin, M; Bachoud-Lévi, A-C; Maison, P Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 81(2010)Supplement 1 Page Start: A48 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. C08 Caffeine is a modifier of age at onset in Huntington's disease. (16th November 2010) Authors: Duru, C; Simonin, C; Richard, F; Hincker, P; Génin, M; Charles, P; Youssov, K; Burnouf, S; Azulay, J-P; Verny, C; Tranchant, C; Goizet, C; Defebvre, L; Sablonnière, B; Rousseau, M; Buée, L; Amouyel, P; Godefroy, O; Dürr, A; Bachoud-Lévi, A-C Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 81(2010)Supplement 1 Page Start: A18 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia. Issue 7 (1st July 2002) Authors: Lesca, G; Goizet, C; Dürr, A Other Names: group-author. Journal: Journal of medical genetics Issue: Volume 39:Issue 7(2002) Page Start: 522 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21. Issue 5 (20th May 2005) Authors: Ali, M; Highet, L J; Lacombe, D; Goizet, C; King, M D; Tacke, U; van der Knaap, M S; Lagae, L; Rittey, C; Brunner, H G; van Bokhoven, H; Hamel, B; Oade, Y A; Sanchis, A; Desguerre, I; Cau, D; Mathieu, N; Moutard, M L; Lebon, P; Kumar, D Journal: Journal of medical genetics Issue: Volume 43:Issue 5(2006) Page Start: 444 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. Issue 10 (30th September 2005) Authors: Laumonnier, F; Holbert, S; Ronce, N; Faravelli, F; Lenzner, S; Schwartz, C E; Lespinasse, J; Van Esch, H; Lacombe, D; Goizet, C; Phan-Dinh Tuy, F; van Bokhoven, H; Fryns, J-P; Chelly, J; Ropers, H-H; Moraine, C; Hamel, B C J; Briault, S Journal: Journal of medical genetics Issue: Volume 42:Issue 10(2005) Page Start: 780 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations. Issue 12 (16th November 2009) Authors: Solé, G; Coupry, I; Rooryck, C; Guérineau, E; Martins, F; Devés, S; Hubert, C; Souakri, N; Boute, O; Marchal, C; Faivre, L; Landré, E; Debruxelles, S; Dieux-Coeslier, A; Boulay, C; Chassagnon, S; Michel, V; Routon, M-C; Toutain, A; Philip, N Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 80:Issue 12(2009) Page Start: 1394 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗