Publications 2021

Adams D et al. (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.

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.
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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
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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.

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.

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

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.

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.

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.

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