Publications 2021

Adams D, Polydefkis M, González-Duarte A, Wixner J, Kristen AV, Schmidt HH, Berk JL, Losada López IA, Dispenzieri A, Quan D, Conceição IM, Slama MS, Gillmore JD, Kyriakides T, Ajroud-Driss S, Waddington-Cruz M, Mezei MM, Planté-Bordeneuve V, Attarian S, Mauricio E, Brannagan TH 3rd, Ueda M, Aldinc E, Wang JJ, White MT, Vest J, Berber E, Sweetser MT, Coelho T, Patisiran Global OLE study group (2021) Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Lancet Neurol 20:49-59.

Badr DA, Picone O, Bevilacqua E, Carlin A, Meli F, Sibiude J, (…), Vivanti AJ. Severe Acute Respiratory Syndrome Coronavirus 2 and Pregnancy Outcomes According to Gestational Age at Time of Infection. Emerg Infect Dis 2021 Oct;27(10):2535-2543. doi: 10.3201/eid2710.211394. PMID: 34352196

Bougnères P, Hacein-Bey-Abina S, Labik I, Adamsbaum C, Castaignède C, Bellesme C, Schmidt M. (2021) Long-term follow-up of hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy. Human Gene Therapy 32, no 19‑20 (1 octobre 2021): 1260‑69. https://doi.org/10.1089/hum.2021.053.

Bougnères P, Porcher R, Esterle L, Baker D, de la Vaissière A, Meurisse S, Valtat S, Castell A-L, Mouriquand P,  Valleron A-J. (2021) Exploring the risk of hypospadias in children born from mothers living close to a vineyard. 16(4): e0249800. https://doi.org/10.1371/journal.pone.0249800

Boutary S, Echaniz-Laguna A, Adams D, Loisel-Duwattez J, Schumacher M, Massaad C, Massaad-Massade L (2021a) Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future. Transl Res 227:100-111.

Boutary S, Caillaud M, El Madani M, Vallat JM, Loisel-Duwattez J, Rouyer A, Richard L, Gracia C, Urbinati G, Desmaële D, Echaniz-Laguna A, Adams D, Couvreur P, Schumacher M, Massaad C, Massaad-Massade L (2021b) Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A. Commun Biol 4:317. https://doi.org/10.1038/s42003-021-01839-2

Caillaud M, Gobeaux F, Hémadi M, Boutary S, Guenoun P, Desmaële D, Couvreur P, Wien F, Testard F, Massaad-Massade L (2021) Supramolecular organization and biological interaction of squalenoyl siRNA nanoparticles. Int J Pharm 609:121117. https://doi.org/10.1016/j.ijpharm.2021.121117

Chambraud B, Daguinot C, Guillemeau K, Genet M, Dounane O, Meduri G, Poüs C, Baulieu EE, Giustiniani J (2021) Decrease of neuronal FKBP4/FKBP52 modulates perinuclear lysosomal positioning and MAPT/Tau behavior during MAPT/Tau-induced proteotoxic stress. Autophagy 17:3491-3510.

Chapdelaine T, Hakim V, Triller A, Ranft J, Specht CG (2021) Reciprocal stabilization of glycine receptors and gephyrin scaffold proteins at inhibitory synapses. Biophys J 120:805-817.

 Chareyre J, Neuraz A, Badina A, Barnerias C, Hully M, Kermorvant-Duchemin E, Leroy-Terquem E, Carlier RY, Melki J, Desguerre I, Gitiaux C. Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 Patients. J Child Neurol. 2021 Oct;36(12):1071-1077. doi: 10.1177/08830738211022972. PMID: 34410827.

Del Giovane A, Russo M, Tirou L, Faure H, Ruat M, Balestri S, Sposato C, Basoli F, Rainer A, Kassoussi A, Traiffort E, Ragnini-Wilson A (2021) Smoothened/AMP-Activated Protein Kinase Signaling in Oligodendroglial Cell Maturation. Front Cell Neurosci 15:801704.

 Etienne M, Gabay L, Levaillant J-M, Vivanti A, Dommergues M, Fernandez H, et al. Benefits of using a simulator in the initial training for transvaginal ultrasound examination in gynecologic emergency unit. J Gynecol Obstet Hum Reprod 2021;50:101938. https://doi.org/10.1016/j.jogoh.2020.101938

 Fréchou M, Zhu X, Kumar N, Sitruk-Ware R, Schumacher M, Mattern C, Guennoun R (2021) Sex differences in the cerebroprotection by Nestorone intranasal delivery following stroke in mice. Neuropharmacology 198:108760. https://doi.org/10.1016/j.neuropharm.2021.108760

Gottardi E, Costa J-M, Kleinfinger P, Lohmann L, Carrara J, Letourneau A, (…), Vivanti AJ. Accuracy of first-trimester cell-free DNA screening for trisomy 21 in twin pregnancy. Ultrasound Obstet Gynecol 2021;58:327–8. https://doi.org/10.1002/uog.23102

Guillaumet G, Aghakhani N, Morar S, Copaciu R, Parker F, Knafo S (2021). Reintervention rate of arachnolysis versus shunting for nonforaminal syringomyelia. Journal of Neurosurgery: Spine, 34(4), 673–679.

Jaber D, Gitiaux C, Blesson S, Marguet F, Buard D, Varela Salgado M, Kaminska A, Saada J, Fallet-Bianco C, Martinovic J, Laquerriere A, Melki J (2021) De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes. J Med Genet 58:737-742.

Klionsky DJ, Abdel-Aziz A.K., Abdelfatah S., Abdellatif M., Abdoli A, Abel S.,…, Tam S.Y., Tampellini D., Tamura A.,…,and Tong CK. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 8

Knafo S, Apra C, Eloy G, Guigui P, Bouyer B (2021). Fear Avoidance Beliefs and Outcome After Surgery for Degenerative Lumbar Spine. Clinical Spine Surgery, 34(5), E271–E275.

Knafo S, Penet N, Gaillard S, Parker F (2021). Cognitive versus virtual reality simulation for evaluation of technical skills in neurosurgery. Neurosurgical Focus, 51(2), E9.

Laouarem Y, Kassoussi A, Zahaf A, Hutteau-Hamel T, Mellouk A, Bobé P, Mattern C, Schumacher M, Traiffort E (2021) Functional cooperation of the hedgehog and androgen signaling pathways during developmental and repairing myelination. Glia 69:1369-1392. https://doi.org/10.1002/glia.23967

Lara A, Esperante I, Meyer M, Liere P, Di Giorgio N, Schumacher M, Guennoun R, Gargiulo-Monachelli G, De Nicola AF, Gonzalez Deniselle MC (2021) Neuroprotective Effects of Testosterone in Male Wobbler Mouse, a Model of Amyotrophic Lateral Sclerosis. Mol Neurobiol 58:2088-2106.

Ling M, Sui B, Su D, Li D, Wang B, Wan H, Schumacher M, Ji L, Liu S (2021) Central functional reorganization and recovery following facial-hypoglossal neurorrhaphy for facial paralysis. Neuroimage Clin 32:102782.

Mahazou I, Choukri M, Parker F, Knafo S (2021). Cerebellar syringocephaly following surgery for chiari malformation. Neurology, 97(1), 38–39. https://doi.org/10.1212/WNL.0000000000012128

Mancino DN, Leicaj ML, Lima A, Roig P, Guennoun R, Schumacher M, De Nicola AF, Garay LI (2021) Developmental expression of genes involved in progesterone synthesis, metabolism and action during the post-natal cerebellar myelination. J Steroid Biochem Mol Biol 207:105820.

Maynard SA, Rostaing P, Schaefer N, Gemin O, Candat A, Dumoulin A, Villmann C, Triller A, Specht CG (2021) Identification of a stereotypic molecular arrangement of endogenous glycine receptors at spinal cord synapses. Elife 10.  https://doi.org/10.7554/eLife.74441

Mikdache A, Boueid MJ, van der Spek L, Lesport E, Delespierre B, Loisel-Duwattez J, Degerny C, Tawk M (2021) Rgs4 is a regulator of mTOR activity required for motoneuron axon outgrowth and neuronal development in zebrafish. Sci Rep 11:13338.

Schumacher M, Ghoumari A, Mattern C, Bougnères P, Traiffort E (2021) Testosterone and Myelin Regeneration in the Central Nervous System. Androgens: Clinical Research and Therapeutics 2:231-251.

Schurder J, Lazareth H, Mrad J, Thervet E, Benachi A, Vivanti AJ. Acute kidney injury after Valaciclovir administration. Ultrasound Obstet Gynecol 2021 Oct;58(4):636-637. doi: 10.1002/uog.23724. PMID: 34182607.

Schwartz DA, Baldewijns M, Benachi A, Bugatti M, Collins RRJ, De Luca D, (…), Vivanti AJ. Chronic Histiocytic Intervillositis With Trophoblast Necrosis Is a Risk Factor Associated With Placental Infection From Coronavirus Disease 2019 (COVID-19) and  Intrauterine Maternal-Fetal Severe Acute Respiratory Syndrome Coronavirus 2  (SARS-CoV-2) Transmission in Live-Born and Stillborn Infants. Arch Pathol Lab Med 2021;145:517–28. https://doi.org/10.5858/arpa.2020-0771-SA

Sitruk-Ware R et al. (2021) Progress in progestin-based therapies for neurological disorders. Neurosci Biobehav Rev 122:38-65.

Specht CG (2021) A Quantitative Perspective of Alpha-Synuclein Dynamics – Why Numbers Matter. Front Synaptic Neurosci 13:753462.

Tian M, Stroebel D, Piot L, David M, Ye S, Paoletti P (2021) GluN2A and GluN2B NMDA receptors use distinct allosteric routes. Nat Commun 12:4709.

Traiffort E, Morisset-Lopez S, Moussaed M, Zahaf A (2021) Defective Oligodendroglial Lineage and Demyelination in Amyotrophic Lateral Sclerosis. Int J Mol Sci 22.

Vacher CM, Lacaille H, O’Reilly JJ, Salzbank J, Bakalar D, Sebaoui S, Liere P, Clarkson-Paredes C, Sasaki T, Sathyanesan A, Kratimenos P, Ellegood J, Lerch JP, Imamura Y, Popratiloff A, Hashimoto-Torii K, Gallo V, Schumacher M, Penn AA (2021) Placental endocrine function shapes cerebellar development and social behavior. Nat Neurosci 24:1392-1401. doi: 10.1038/s41593-021-00896-4

Vivanti AJ, De Luca D, Raschetti R, Benachi A. Obstetric and neonatal literature is complex and should be merged to understand perinatal SARS-CoV-2 infection. Ultrasound Obstet Gynecol 2021;57:351–2. https://doi.org/10.1002/uog.23582.

Vivanti AJ, Benachi A, Saada J, Bonnin A, Letourneau A, Carrara J, et al. Impact of simulation-based prenatal invasive procedure training on professional practice, a preliminary study. J Gynecol Obstet Hum Reprod 2021;50:101865. https://doi.org/10.1016/j.jogoh.2020.101865.

Wagner S, Lee C, Rojas L, Specht CG, Rhee J, Brose N, Papadopoulos T (2021) The α3 subunit of GABA(A) receptors promotes formation of inhibitory synapses in the absence of collybistin. J Biol Chem 296:100709.

Wang L, Sun X, Lu L, Marie A, Carrel D, Zhao S, Mille C, Song Q, Zhang Y, Ye S (2021) Optoproteomics elucidates the interactome of L-type amino acid transporter 3 (LAT3). Chem Commun (Camb) 57:4734-4737.

Yang X, Le Corronc H, Legendre P, Triller A, Specht CG (2021) Differential regulation of glycinergic and GABAergic nanocolumns at mixed inhibitory synapses. EMBO Rep 22:e52154. https://doi.org/10.15252/embr.202052154