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Page 1
Natural History of Adult Patients with GM2 Gangliosidosis.
Masingue M, Dufour L, Lenglet T, Saleille L, Goizet C, Ayrignac X, Ory-Magne F, Barth M, Lamari F, Mandia D, Caillaud C, Nadjar Y. Masingue M, et al. Among authors: goizet c. Ann Neurol. 2020 Apr;87(4):609-617. doi: 10.1002/ana.25689. Epub 2020 Feb 7. Ann Neurol. 2020. PMID: 31995250
[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].
Carra-Dalliere C, Horzinski L, Ayrignac X, Vukusic S, Rodriguez D, Mauguiere F, Peter L, Goizet C, Bouhour F, Denier C, Confavreux C, Obadia M, Blanc F, de Seze J, Sedel F, Guennoc AM, Sartori E, Laplaud D, Antoine JC, Fogli A, Boespflug-Tanguy O, Labauge P. Carra-Dalliere C, et al. Among authors: goizet c. Rev Neurol (Paris). 2011 Nov;167(11):802-11. doi: 10.1016/j.neurol.2011.03.008. Epub 2011 Jun 14. Rev Neurol (Paris). 2011. PMID: 21676421 French.
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Ayrignac X, Carra-Dalliere C, Menjot de Champfleur N, Denier C, Aubourg P, Bellesme C, Castelnovo G, Pelletier J, Audoin B, Kaphan E, de Seze J, Collongues N, Blanc F, Chanson JB, Magnin E, Berger E, Vukusic S, Durand-Dubief F, Camdessanche JP, Cohen M, Lebrun-Frenay C, Brassat D, Clanet M, Vermersch P, Zephir H, Outteryck O, Wiertlewski S, Laplaud DA, Ouallet JC, Brochet B, Goizet C, Debouverie M, Pittion S, Edan G, Deburghgraeve V, Le Page E, Verny C, Amati-Bonneau P, Bonneau D, Hannequin D, Guyant-Maréchal L, Derache N, Defer GL, Moreau T, Giroud M, Guennoc AM, Clavelou P, Taithe F, Mathis S, Neau JP, Magy L, Devoize JL, Bataillard M, Masliah-Planchon J, Dorboz I, Tournier-Lasserve E, Levade T, Boespflug Tanguy O, Labauge P. Ayrignac X, et al. Among authors: goizet c. Brain. 2015 Feb;138(Pt 2):284-92. doi: 10.1093/brain/awu353. Epub 2014 Dec 19. Brain. 2015. PMID: 25527826
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I. Pilliod J, et al. Among authors: goizet c. Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14. Ann Neurol. 2015. PMID: 26288984
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Marelli C, Guissart C, Hubsch C, Renaud M, Villemin JP, Larrieu L, Charles P, Ayrignac X, Sacconi S, Collignon P, Cuntz-Shadfar D, Perrin L, Benarrosh A, Degardin A, Lagha-Boukbiza O, Mutez E, Carlander B, Morales RJ, Gonzalez V, Carra-Dalliere C, Azakri S, Mignard C, Ollagnon E, Pageot N, Chretien D, Geny C, Azulay JP, Tranchant C, Claustres M, Labauge P, Anheim M, Goizet C, Calvas P, Koenig M. Marelli C, et al. Among authors: goizet c. Hum Mutat. 2016 Dec;37(12):1340-1353. doi: 10.1002/humu.23063. Epub 2016 Sep 2. Hum Mutat. 2016. PMID: 27528516
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Echaniz-Laguna A, Geuens T, Petiot P, Péréon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O, Degos B, Salachas F, Lenglet T, Eymard B, Delmont E, Pouget J, Juntas Morales R, Goizet C, Latour P, Timmerman V, Stojkovic T. Echaniz-Laguna A, et al. Among authors: goizet c. Hum Mutat. 2017 May;38(5):556-568. doi: 10.1002/humu.23189. Epub 2017 Feb 25. Hum Mutat. 2017. PMID: 28144995
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.
Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin ML, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C, Labauge P, Odent S, Ewenczyk C, Wolf C, Stevanin G, Hajage D, Durr A, Goizet C, Mochel F. Marelli C, et al. Among authors: goizet c. Brain. 2018 Jan 1;141(1):72-84. doi: 10.1093/brain/awx297. Brain. 2018. PMID: 29228183 Clinical Trial.
241 results