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CANVAS, a sensory neuronopathy to look for in ataxia.
Méreaux JL, Grangeon L, Bédat-Millet AL, Guyant-Maréchal L. Méreaux JL, et al. Among authors: guyant marechal l. Rev Neurol (Paris). 2023 Oct;179(8):910-913. doi: 10.1016/j.neurol.2022.12.014. Epub 2023 Jun 8. Rev Neurol (Paris). 2023. PMID: 37301658
Development of an Objective Structured Clinical Examination (OSCE) to evaluate the diagnosis announcement of chronic neurological disease by residents in neurology.
Grangeon L, Wallon D, Bourre B, Guillaume M, Guegan-Massardier E, Guyant-Marechal L, Liard A, Sibert L, Maltete D. Grangeon L, et al. Among authors: guyant marechal l. Rev Neurol (Paris). 2024 May 4:S0035-3787(24)00480-6. doi: 10.1016/j.neurol.2024.02.390. Online ahead of print. Rev Neurol (Paris). 2024. PMID: 38705796
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A. Méreaux JL, et al. Among authors: guyant marechal l. EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38150853 Free PMC article.
Titin copy number variations associated with dominant inherited phenotypes.
Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. Perrin A, et al. Among authors: guyant marechal l. J Med Genet. 2024 Mar 21;61(4):369-377. doi: 10.1136/jmg-2023-109473. J Med Genet. 2024. PMID: 37935568
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Pacot L, Sabbagh A, Sohier P, Hadjadj D, Ye M, Boland-Auge A, Bacq-Daian D, Laurendeau I, Briand-Suleau A, Deleuze JF, Margueron R, Vidaud M, Ferkal S, Parfait B, Vidaud D; NF-France Network; Pasmant E, Wolkenstein P. Pacot L, et al. Br J Dermatol. 2024 Jan 23;190(2):226-243. doi: 10.1093/bjd/ljad390. Br J Dermatol. 2024. PMID: 37831592
Phenotype and imaging features associated with APP duplications.
Grangeon L, Charbonnier C, Zarea A, Rousseau S, Rovelet-Lecrux A, Bendetowicz D, Lemaitre M, Malrain C, Quillard-Muraine M, Cassinari K, Maltete D, Pariente J, Moreaud O, Magnin E, Cretin B, Mackowiak MA, Sillaire AR, Vercelletto M, Dionet E, Felician O, Rod-Olivieri P, Thomas-Antérion C, Godeneche G, Sauvée M, Cartz-Piver L, Le Ber I, Chauvire V, Jonveaux T, Balageas AC, Laquerriere A, Duyckaerts C, Vital A, de Paula AM, Meyronet D, Guyant-Marechal L, Hannequin D, Tournier-Lasserve E, Campion D; CNR-MAJ collaborators; Nicolas G, Wallon D. Grangeon L, et al. Among authors: guyant marechal l. Alzheimers Res Ther. 2023 May 11;15(1):93. doi: 10.1186/s13195-023-01172-2. Alzheimers Res Ther. 2023. PMID: 37170141 Free PMC article.
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Barbier M, Davoine CS, Petit E, Porché M, Guillot-Noel L, Sayah S, Fauret AL, Neau JP, Guyant-Maréchal L, Deffond D, Tranchant C, Goizet C, Coarelli G, Castrioto A, Klebe S, Ewenczyk C, Heinzmann A, Charles P, Tchikviladzé M, Van Broeckhoven C, Brice A, Durr A. Barbier M, et al. Among authors: guyant marechal l. Genet Med. 2023 Feb;25(2):100327. doi: 10.1016/j.gim.2022.10.009. Epub 2022 Nov 23. Genet Med. 2023. PMID: 36422518 Free article.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Morsy H, et al. Among authors: guyant marechal l. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. Genet Med. 2023. PMID: 36331550 Free PMC article.
73 results