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Page 1
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C. Marsh AP, et al. Among authors: guegan j. Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250454 Free PMC article.
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Parodi L, Fenu S, Barbier M, Banneau G, Duyckaerts C, Tezenas du Montcel S, Monin ML, Ait Said S, Guegan J, Tallaksen CME, Sablonniere B, Brice A, Stevanin G, Depienne C, Durr A; SPATAX network. Parodi L, et al. Among authors: guegan j. Brain. 2018 Dec 1;141(12):3331-3342. doi: 10.1093/brain/awy285. Brain. 2018. PMID: 30476002
Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
Depienne C, Ciura S, Trouillard O, Bouteiller D, Leitão E, Nava C, Keren B, Marie Y, Guegan J, Forlani S, Brice A, Anheim M, Agid Y, Krack P, Damier P, Viallet F, Houeto JL, Durif F, Vidailhet M, Worbe Y, Roze E, Kabashi E, Hartmann A. Depienne C, et al. Among authors: guegan j. Tremor Other Hyperkinet Mov (N Y). 2019 Nov 22;9. doi: 10.7916/tohm.v0.693. eCollection 2019. Tremor Other Hyperkinet Mov (N Y). 2019. PMID: 31824749 Free PMC article.
Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease.
Prud'hon S, Bekadar S, Rastetter A, Guégan J, Cormier-Dequaire F, Lacomblez L, Mangone G, You H, Daniau M, Marie Y, Bertrand H, Lesage S, Tezenas Du Montcel S, Anheim M, Brice A, Danjou F, Corvol JC. Prud'hon S, et al. Among authors: guegan j. Front Neurol. 2020 Jul 21;11:641. doi: 10.3389/fneur.2020.00641. eCollection 2020. Front Neurol. 2020. PMID: 32793093 Free PMC article.
Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
Depienne C, Ciura S, Trouillard O, Bouteiller D, Leitão E, Nava C, Keren B, Marie Y, Guegan J, Forlani S, Brice A, Anheim M, Agid Y, Krack P, Damier P, Viallet F, Houeto JL, Durif F, Vidailhet M, Worbe Y, Roze E, Kabashi E, Hartmann A. Depienne C, et al. Among authors: guegan j. Tremor Other Hyperkinet Mov (N Y). 2023 Jul 14;13:22. doi: 10.5334/tohm.792. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 37457636 Free PMC article.
Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism.
Casse F, Courtin T, Tesson C, Ferrien M, Noël S, Fauret-Amsellem AL, Gareau T, Guegan J, Anheim M, Mariani LL, Le Forestier N, Tranchant C, Corvol JC, Lesage S, Brice A; French Parkinson's disease genetics study group (PDG). Casse F, et al. Among authors: guegan j. Mov Disord Clin Pract. 2023 Mar 7;10(4):664-669. doi: 10.1002/mdc3.13699. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070044 Free PMC article.
Molecular Profiling Reclassifies Adult Astroblastoma into Known and Clinically Distinct Tumor Entities with Frequent Mitogen-Activated Protein Kinase Pathway Alterations.
Boisseau W, Euskirchen P, Mokhtari K, Dehais C, Touat M, Hoang-Xuan K, Sanson M, Capelle L, Nouet A, Karachi C, Bielle F, Guégan J, Marie Y, Martin-Duverneuil N, Taillandier L, Rousseau A, Delattre JY, Idbaih A. Boisseau W, et al. Among authors: guegan j. Oncologist. 2019 Dec;24(12):1584-1592. doi: 10.1634/theoncologist.2019-0223. Epub 2019 Jul 25. Oncologist. 2019. PMID: 31346129 Free PMC article.
Identification of novel recurrent ETV6-IgH fusions in primary central nervous system lymphoma.
Bruno A, Labreche K, Daniau M, Boisselier B, Gauchotte G, Royer-Perron L, Rahimian A, Lemoine F, de la Grange P, Guégan J, Bielle F, Polivka M, Adam C, Meyronet D, Figarella-Branger D, Villa C, Chrétien F, Eimer S, Davi F, Rousseau A, Houillier C, Soussain C, Mokhtari K, Hoang-Xuan K, Alentorn A. Bruno A, et al. Among authors: guegan j. Neuro Oncol. 2018 Jul 5;20(8):1092-1100. doi: 10.1093/neuonc/noy019. Neuro Oncol. 2018. PMID: 29432597 Free PMC article.
Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.
Teyssou E, Muratet F, Amador MD, Ferrien M, Lautrette G, Machat S, Boillée S, Larmonier T, Saker S, Leguern E, Cazeneuve C, Marie Y, Guegan J, Gyorgy B, Cintas P, Meininger V, Le Forestier N, Salachas F, Couratier P, Camu W, Seilhean D, Millecamps S. Teyssou E, et al. Among authors: guegan j. Neurobiol Aging. 2021 Mar;99:102.e11-102.e20. doi: 10.1016/j.neurobiolaging.2020.10.015. Epub 2020 Oct 23. Neurobiol Aging. 2021. PMID: 33218681
223 results