Publications 2023

Akwa Y, Di Malta C, Zallo F, Gondard E, Lunati A, Diaz-de-Grenu LZ, Zampelli A, Boiret A, Santamaria S, Martinez-Preciado M, Cortese K, Kordower JH, Matute C, Lozano AM, Capetillo-Zarate E, Vaccari T, Settembre C, Baulieu EE, Tampellini D. Stimulation of synaptic activity promotes TFEB-mediated clearance of pathologic MAPT/Tau in cellular and mouse models of tauopathies. Autophagy 2023, 19: 660-677. https://doi.org/10.1080/15548627.2022.2095791

Boueid MJ, Mikdache A, Lesport E, Delespierre B, Loisel-Duwattez J, Degerny C, Tawk M. Pals1a and aPKCl are not essential for Schwann cell migration, division or myelination in zebrafish. Dev Dyn. 2023 Jan;252(1):145-155. http://doi.org/10.1002/dvdy.547

Boutary S, Khalaf G, Caillaud M, Desmaële D, Yesylevskyy S, Ramseyer C, Massaad-Massade L. Optimizing Structure and Activity of the Squalenoyl-siRNA Nanoparticles. Journal of Clinical Toxicology. 2023. 13 (2) No:1000530. http://doi.org/10.35248/2161-0495.23.13.530

Capri Y, Kwon T, Boyer O, Bourmancé L, Testa N, Baudouin V, Bonnefoy R, Couderc A, Meziane C, Tournier-Lasserve E, Heidet L and Melki J. Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension.  J Med Genet 2023 in press. http://dx.doi.org/10.1136/jmg-2023-109176

Davezac M, Zahreddine R, Buscato M, Smirnova NF, Febrissy C, Laurell H, Gilardi-Bresson S, Adlanmerini M, Liere P, Flouriot G, Guennoun R, Laffargue M, Foidart JM, Lenfant F, Arnal JF, Métivier R, Fontaine C. The different natural estrogens promote endothelial healing through distinct cell targets. JCI Insight. 2023;8(5):e161284. https://doi.org/10.1172/jci.insight.161284

du Closel LB, Bonello-Palot N, Péréon Y, Echaniz-Laguna A, Camdessanche JP, Pakleza AN, Chanson JB, Frachet S, Magy L, Cassereau J, Cintas P, Choumert A, Devic P, Louis SL, Dumonceau RG, Delmont E, Salort-Campana E, Bouhour F, Latour P, Stojkovic T, Attarian S. Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease. Eur J Neurol. 2023 Jun 19. doi: http://doi.org/10.1111/ene.15937

Echaniz-Laguna A, Cauquil C, Chanson JB, Tard C, Guyant-Marechal L, Kuntzer T, Ion IM, Lia AS, Bouligand J, Poinsignon V. EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset. J Peripher Nerv Syst. 2023 Jun 12. http://doi.org/10.1111/jns.12572

Fernandez N, Petit A, Pianos A, Haddad L, Schumacher M, Liere P, Guennoun R (2023) Aging is associated with lower neuroactive steroids and worsened outcomes following cerebral ischemia in male mice. Endocrinology. 164., 1-24. https://doi.org/10.1210/endocr/bqac183

Hamadeh T, van Doormaal PTC, Pruppers MHJ, van de Mortel JPM, Hoeijmakers JGJ, Cornblath DR, Vrancken AFJE, Faber CG, Notermans NC, Merkies ISJ; IMAGiNe Consortium. IgM anti-MAG± peripheral neuropathy (IMAGiNe) study protocol: An international, observational, prospective registry of patients with IgM M-protein peripheral neuropathies. J Peripher Nerv Syst. 2023 Jun;28(2):269-275. http://doi.org/10.1111/jns.12547

Krief N, Gabriel R, Cauquil C, Adams D, Fargeot G, Maisonobe T, Osman D, Schmidt M, Chanson JB, Bigaut K, Sole G, Tard C, Nicolas G, Pereon Y, Aure K, Lagrange E, Lefilliatre M, Labeyrie MA, Echaniz-Laguna A. Clinical features and maternal and fetal outcomes in women with Guillain-Barré syndrome in pregnancy. J Neurol. 2023 Jun 9:1-9. http://doi.org/10.1007/s00415-023-11808-w

Liere P, Liu GJ, Pianos A, Middleton RJ, Banati RB, Akwa Y*. The comprehensive steroidome in complete TSPO/PBR knockout mice under basal conditions. Int J Mol Sci. 2023, 24:2474. https://doi.org/10.3390/ijms24032474

Luijten LWG, Doets AY, Arends S, Dimachkie MM, Gorson KC, Islam B, Kolb NA, Kusunoki S, Papri N, Waheed W, Walgaard C, Yamagishi Y, Lingsma H, Jacobs BC; IGOS Consortium. Modified Erasmus GBS Respiratory Insufficiency Score: a simplified clinical tool to predict the risk of mechanical ventilation in Guillain-Barré syndrome. J Neurol Neurosurg Psychiatry. 2023 Apr;94(4):300-308. http://doi.org/10.1136/jnnp-2022-329937

Verdier H, Laurent F, Cassé A, Vestergaard CL, Specht CG, Masson JB (2023). Simulation-based inference for non-parametric statistical comparison of biomolecule dynamics. PLoS Comput Biol, 19(2):e1010088.

Vialatte de Pémille C, Noël N, Adam C, Labeyrie C, Not A, Beaudonnet G, Echaniz-Laguna A, Adams D, Cauquil C. Red Flags for Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated with Sarcoidosis or Connective Tissue Diseases. J Clin Med. 2023 May 4;12(9):3281. http://doi.org/10.3390/jcm12093281

Saffari A, Lau T, Tajsharghi H,… Melki J,… et al. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 Feb 9:awad039. https://doi.org/10.1093/brain/awad039

Socie P, Benmalek A, Cauquil C, Piekarski E, Kounis I, Eliahou L, Rousseau A, Rouzet F, Echaniz-Laguna A, Samuel D, Adams D, Slama MS, Algalarrondo V. Comparison between tafamidis and liver transplantation as first-line therapy for hereditary transthyretin amyloidosis. Amyloid. 2023 Feb 16:1-10. http://doi.org/10.1080/13506129.2023.2177986

Zahaf A, Kassoussi A, Hutteau-Hamel T, Mellouk A, Marie C , Zoupi L, Tsouki F, Mattern C , Bobé P, Schumacher M , Williams A , Parras C, Traiffort E. Androgens show sex-dependent differences in myelination in immune and non-immune murine models of CNS demyelination. Nature Communication. 2023. 14. 1592. https://doi.org/10.1038/s41467-023-36846-w