Publications 2023

Adams D, Algalarrondo V, Echaniz-Laguna A (2023) Hereditary transthyretin amyloidosis in the era of RNA interference, antisense oligonucleotide & CRISPR-Cas9 treatments. Blood. 142, 19. https://doi.org/10.1182/blood.2023019884

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, El-Hage O, Schumacher M, Degerny C, Tawk M (2023) Zebrafish as an emerging model to study estrogen receptors in neural development. Front Endocrinol (Lausanne) 14:1240018.

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

Capri Y, Bourmance L, Dupont C, Saint-Frison MH, Guimiot F, Grotto S, Chitrit Y, Laquerrière A, Melki J. DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy. Clin Genet. 2023 Nov;104(5):587-592. doi: 10.1111/cge.14397. PMID: 37431644

 

Cascella R., Banchelli M., Ghadami S.A., Ami D., Gagliani M.C., Bigi A., Staderini T., Tampellini D., Cortese K., Cecchi C., Natalello A., Adibi H., Matteini P., and Chiti F. An in situ and in vitro investigation of cytoplasmic TDP-43 inclusions reveals the absence of a clear amyloid signature. Ann. Med. 2023 Dec;55(1):72-88. doi: 10.1080/07853890.2022.2148734

 Claudet A, De Luca D, Mosnino E, Mattern J, Picone O, Sibiude J, Wafo E, Tsatsaris V, Giral E, Grefenstette I, Carrara J, Badr DA, Saint-Frison MH, Prevot S, Benachi A, Vivanti AJ. Impact of SARS-CoV-2 Infection on Unvaccinated Pregnant Women: Non-Reassuring Fetal Heart Rate Tracing Because of Placentitis. Viruses. 2023 Apr 27;15(5):1069. doi: 10.3390/v15051069. PMID: 37243156

Claudel N, Barrois M, Vivanti AJ, Rosenblatt J, Salomon LJ, Jouannic JM, Picone O, Carbillon L, Vialard F, Launay E, Tsatsaris V, Curis E, El Khattabi L; APHP prenatal diagnosis group. Non-invasive cell-free DNA prenatal screening for trisomy 21 as part of primary screening strategy in twin pregnancies. Ultrasound Obstet Gynecol. 2023 Jul 20. doi: 10.1002/uog.26311. PMID: 37470702

 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

De Luca D, Vauloup-Fellous C, Benachi A, Vivanti A. Transmission of SARS-CoV-2 from mother to fetus or neonate: What to know and what to do? Semin Fetal Neonatal Med. 2023 Feb;28(1):101429. doi: 10.1016/j.siny.2023.101429. PMID: 36935314

 Deng L, Gao R, Chen H, Jiao B, Zhang C, Wei L, Yan C, Ye-Lehmann S, Zhu T, Chen C (2023) Let-7b-TLR7 Signaling Axis Contributes to the Anesthesia/Surgery-Induced Cognitive Impairment. Mol Neurobiol.

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, Labeyrie C, Adams D (2023) Treating hereditary transthyretin amyloidosis: Present & future challenges. Rev Neurol (Paris) 179:30-34.

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

El Chemali L, Akwa Y, Massaad-Massade L (2022) The mitochondrial translocator protein (TSPO): a key multifunctional molecule in the nervous system. Biochem J 479:1455-1466.

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

Gillet de Thorey A, Ozanne A, Melki J, Dumery G, Benachi A, Vivanti AJ (2022) State of the art of antenatal diagnosis and management of vein of Galen aneurysmal malformations. Prenat Diagn 42:1073-1080.

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

Khalaf G, Mattern C, Begou M, Boespflug-Tanguy O, Massaad C, Massaad-Massade L (2022) Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia. Biomedicines 10.

Khayenko V, Schulte C, Reis SL, Avraham O, Schietroma C, Worschech R, Nordblom NF, Kachler S, Villmann C, Heinze KG, Schlosser A, Schueler-Furman O, Tovote P, Specht CG, Maric HM (2022) A Versatile Synthetic Affinity Probe Reveals Inhibitory Synapse Ultrastructure and Brain Connectivity. Angew Chem Int Ed Engl 61:e202202078.

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

Lejamtel F, Oheix C, Morales E, Martinovic J, Labrune P, Petit FM, Receveur A, Achour-Frydman N, Benachi A, Puisney-Dakhli C, Vivanti AJ. Management of copy number variants associated with incomplete penetrance and variable expressivity-Results of a French survey. Clin Genet. Clin Genet. 2023 Mar;103(3):335-340. doi: 10.1111/cge.14252. PMID: 36273389.

 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

Luchetti S, Liere P, Pianos A, Verwer RWH, Sluiter A, Huitinga I, Schumacher M, Swaab DF, Mason MRJ. Disease stage-dependent changes in brain levels and neuroprotective effects of neuroactive steroids in Parkinson’s disease. Neurobiol Dis. 2023 Jul:183:106169. https://doi.org/10.1016/j.nbd.2023.106169.

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

Meduri G, Guillemeau K, Daguinot C, Dounane O, Genet M, Ferrara L, Chambraud B, Baulieu E E, Giustiniani J, Concomitant neuronal Tau deposition and FKBP52 decrease is an early feature of different human and experimental tauopathies.  J Alzheimers Dis. 2023;94(1):313-331. https://doi.org/10.3233/JAD-230127

Picone O, Vivanti AJ, Sibiude J, Cordier AG, Alessandrini V, Kayem G, Borie C, Luton D, Manchon P, Couffignal C, Vauloup Fellous C; COVIPREG study group. SARS-COV-2 excretion and maternal-fetal transmission: Virological data of French prospective multi-center cohort study COVIPREG during the first wave. J Gynecol Obstet Hum Reprod. 2023 Apr;52(4):102547. doi: 10.1016/j.jogoh.2023.102547. PMID: 36796640

Pradhan AK, Neumüller T, Klug C, Fuchs S, Schlegel M, Ballmann M, Tartler KJ, Pianos A, Garcia MS, Liere P, Schumacher M, Kreuzer M, Rupprecht R, Rammes G. Chronic administration of XBD173 ameliorates cognitive deficits and neuropathology via 18 kDa translocator protein (TSPO) in a mouse model of Alzheimer’s disease. Transl. Psychiatry..  2023.  Oct 27;13(1):332. https://doi.org/10.1038/s41398-023-02630-z.

Quan D, Obici L, Berk JL, Ando Y, Aldinc E, White MT, Adams D (2023) Impact of baseline polyneuropathy severity on patisiran treatment outcomes in the APOLLO trial. Amyloid 30:49-58.

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

Tampellini D. Activity-dependent mechanisms of neuroprotection: promising avenues against dementia. Neural Regeneration Research 19(7):p 1409-1410, July 2024. https://doi.org/10.4103/1673-5374.387985

Vivanti AJ, De Luca D, Benachi A. Cesarean delivery and neonatal SARS-CoV-2 infections: beware of hasty shortcuts. Am J Obstet Gynecol. 2023 Mar;228(3):358. doi: 10.1016/j.ajog.2022.10.019. PMID: 36306858

Vivanti AJ, Vauloup-Fellous C, Khalil A, Badr DA, Raimondi F, Salome S, Prasad S, Portella G, Fiorenza M, Jani JC, Landraud L, Picone O, Pezza L, Bourgeois-Nicolaos N, Cordier AG, Vedovelli L, De Luca D. Nasopharyngeal SARS-CoV-2 load and perinatal outcomes after maternal infection diagnosed close to delivery. J Gynecol Obstet Hum Reprod. 2023 May;52(5):102569. doi: 10.1016/j.jogoh.2023.102569. PMID: 36878392

 Wang BB, Guo C, Sun SQ, Zhang XN, Li Z, Li WJ, Li Z, Schumacher M, Liu S (2023) Comparison of the Nerve Regeneration Capacity and Characteristics between Sciatic Nerve Crush and Transection Injury Models in Rats. Biomed Environ Sci 36:160-173.

Wiessler AL, Hasenmüller AS, Fuhl I, Mille C, Campo OC, Reinhard N, Schenk J, Heinze KG, Schaefer N, Specht CG, Villmann C. Role of the glycine receptor ß subunit in synaptic localization and pathogenicity in severe startle disease. J Neurosci. 2023 Nov 14:JN-RM-0837-23. https://doi.org/10.1523/JNEUROSCI.0837-23.2023

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

Zhang W, Zhao S, Lu L, Fan Z, Ye S (2022) Activation of neurotrophin signalling with light‑inducible receptor tyrosine kinases. Mol Med Rep 25.