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Page 1
Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy.
Labombarda F, Maurice M, Simon JP, Legallois D, Guyant-Maréchal L, Bedat-Millet AL, Merle P, Saloux E, Chapon F, Milliez P. Labombarda F, et al. J Clin Neuromuscul Dis. 2017 Jun;18(4):199-206. doi: 10.1097/CND.0000000000000144. J Clin Neuromuscul Dis. 2017. PMID: 28538250
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Billon C, Adham S, Hernandez Poblete N, Legrand A, Frank M, Chiche L, Zuily S, Benistan K, Savale L, Zaafrane-Khachnaoui K, Brehin AC, Bal L, Busa T, Fradin M, Quelin C, Chesneau B, Wahl D, Fergelot P, Goizet C, Mirault T, Jeunemaitre X, Albuisson J; Bordeaux-cohort collaborators. Billon C, et al. Orphanet J Rare Dis. 2021 Dec 4;16(1):504. doi: 10.1186/s13023-021-02128-1. Orphanet J Rare Dis. 2021. PMID: 34863227 Free PMC article.
[Stroke and cornea verticillata revealing Fabry's disease in a female].
Fetter D, Bagan-Triquenot A, Guegan-Massardier E, Guyant-Marechal L, Tollard E, Bekri S, Hannequin D. Fetter D, et al. Rev Neurol (Paris). 2012 Feb;168(2):181-6. doi: 10.1016/j.neurol.2011.03.013. Epub 2011 Oct 26. Rev Neurol (Paris). 2012. PMID: 22033111 French.
The wide POLG-related spectrum: An integrated view.
Béreau M, Anheim M, Echaniz-Laguna A, Magot A, Verny C, Goideau-Sevrain M, Barth M, Amati-Bonneau P, Allouche S, Ayrignac X, Bédat-Millet AL, Guyant-Maréchal L, Kuntzer T, Ochsner F, Petiot P, Vial C, Omer S, Sole G, Taieb G, Carvalho N, Tio G, Kremer S, Acquaviva-Bourdain C, de Camaret BM, Tranchant C. Béreau M, et al. J Neurol Sci. 2016 Sep 15;368:70-6. doi: 10.1016/j.jns.2016.06.062. Epub 2016 Jun 29. J Neurol Sci. 2016. PMID: 27538604 No abstract available.
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D; French IBGC Study Group. Nicolas G, et al. Brain. 2013 Nov;136(Pt 11):3395-407. doi: 10.1093/brain/awt255. Epub 2013 Sep 24. Brain. 2013. PMID: 24065723
73 results