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Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.
Kalia LV, Lang AE, Hazrati LN, Fujioka S, Wszolek ZK, Dickson DW, Ross OA, Van Deerlin VM, Trojanowski JQ, Hurtig HI, Alcalay RN, Marder KS, Clark LN, Gaig C, Tolosa E, Ruiz-Martínez J, Marti-Masso JF, Ferrer I, López de Munain A, Goldman SM, Schüle B, Langston JW, Aasly JO, Giordana MT, Bonifati V, Puschmann A, Canesi M, Pezzoli G, Maues De Paula A, Hasegawa K, Duyckaerts C, Brice A, Stoessl AJ, Marras C. Kalia LV, et al. Among authors: maues de paula a. JAMA Neurol. 2015 Jan;72(1):100-5. doi: 10.1001/jamaneurol.2014.2704. JAMA Neurol. 2015. PMID: 25401511 Free PMC article.
Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.
Sevy A, Cerino M, Gorokhova S, Dionnet E, Mathieu Y, Verschueren A, Franques J, Maues de Paula A, Figarella-Branger D, Lagarde A, Desvignes JP, Béroud C, Attarian S, Levy N, Bartoli M, Krahn M, Campana-Salort E, Pouget J. Sevy A, et al. Among authors: maues de paula a. J Neurol Neurosurg Psychiatry. 2016 Mar;87(3):340-2. doi: 10.1136/jnnp-2014-309663. Epub 2015 Mar 17. J Neurol Neurosurg Psychiatry. 2016. PMID: 25783436 No abstract available.
Myofibrillar myopathies: State of the art, present and future challenges.
Béhin A, Salort-Campana E, Wahbi K, Richard P, Carlier RY, Carlier P, Laforêt P, Stojkovic T, Maisonobe T, Verschueren A, Franques J, Attarian S, Maues de Paula A, Figarella-Branger D, Bécane HM, Nelson I, Duboc D, Bonne G, Vicart P, Udd B, Romero N, Pouget J, Eymard B. Béhin A, et al. Among authors: maues de paula a. Rev Neurol (Paris). 2015 Oct;171(10):715-29. doi: 10.1016/j.neurol.2015.06.002. Epub 2015 Sep 3. Rev Neurol (Paris). 2015. PMID: 26342832 Review.
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Cerino M, Campana-Salort E, Salvi A, Cintas P, Renard D, Juntas Morales R, Tard C, Leturcq F, Stojkovic T, Bonello-Palot N, Gorokhova S, Mortreux J, Maues De Paula A, Lévy N, Pouget J, Cossée M, Bartoli M, Krahn M, Attarian S. Cerino M, et al. Among authors: maues de paula a. Neuropathol Appl Neurobiol. 2020 Oct;46(6):564-578. doi: 10.1111/nan.12624. Epub 2020 Jun 10. Neuropathol Appl Neurobiol. 2020. PMID: 32342993
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
Böhm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J. Böhm J, et al. Among authors: maues de paula a. Am J Hum Genet. 2013 Feb 7;92(2):271-8. doi: 10.1016/j.ajhg.2012.12.007. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332920 Free PMC article.
Primary neurolymphomatosis diagnosis and treatment: a retrospective study.
Lagarde S, Tabouret E, Matta M, Franques J, Attarian S, Pouget J, Maues De Paula A, Figarella-Branger D, Dory-Lautrec P, Chinot O, Barrié M. Lagarde S, et al. Among authors: maues de paula a. J Neurol Sci. 2014 Jul 15;342(1-2):178-81. doi: 10.1016/j.jns.2014.04.030. Epub 2014 May 1. J Neurol Sci. 2014. PMID: 24831985
38 results