Publications 2022

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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 (2022) Stimulation of synaptic activity promotes TFEB-mediated clearance of pathological MAPT/Tau in cellular and mouse models of tauopathies. Autophagy:1-18.

Apra C, El Arbi A, Montero AS, Parker F,  Knafo S (2022). Spinal Solitary Fibrous Tumors: An Original Multicenter Series and Systematic Review of Presentation, Management, and Prognosis. Cancers, 14(12), 2839.

Bloms-Funke P, Schumacher M, Liu S, Su D, Li J, Liere P, Rupprecht R, Nothdurfter C, Bahrenberg G, Christoph T, Habermann C, Kneip C, Schröder W, Tzschentke TM, Saunders D (2022) A novel dual mode-of-action anti-hyperalgesic compound in rats which is neuroprotective and promotes neuroregeneration. Eur J Pharmacol 923:174935.

Boueid MJ, Mikdache A, Lesport E, Delespierre B, Loisel-Duwattez J, Degerny C, Tawk M (2022) Pals1a and aPKCλ are not essential for Schwann cell migration, division or myelination in zebrafish. Dev Dyn.

Brunet de Courssou JB, Durr A, Adams D, Corvol JC, Mariani LL (2022) Antisense therapies in neurological diseases. Brain 145:816-831.

Chambraud B, Byrne C, Meduri G, Baulieu EE, Giustiniani J (2022) FKBP52 in Neuronal Signaling and Neurodegenerative Diseases: A Microtubule Story. Int J Mol Sci 23.

De Nicola AF, Meyer M, Garay L, Kruse MS, Schumacher M, Guennoun R, Gonzalez Deniselle MC (2022) Progesterone and Allopregnanolone Neuroprotective Effects in the Wobbler Mouse Model of Amyotrophic Lateral Sclerosis. Cell Mol Neurobiol 42:23-40.

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 (2022) Aging is associated with lower neuroactive steroids and worsened outcomes following cerebral ischemia in male mice. Endocrinology.

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.

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.

Knafo S, Malcoci M, Morar S, Parker F, Aghakhani N (2022). Surgical Management after Chiari Decompression Failure: Craniovertebral Junction Revision versus Shunting Strategies. Journal of Clinical Medicine, 11(12), 3334.

Laquerriere A …. Melki J. (2022) Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. J Med Genet 59:559-567.

Mikdache A, Boueid MJ, Lesport E, Delespierre B, Loisel-Duwattez J, Degerny C, Tawk M (2022) Timely Schwann cell division drives peripheral myelination in vivo via the laminin/cAMP pathway. Development 149.

Özgür-Günes Y, Chedik M, Le Stunff C, Fovet CM, Bougnères P (2022a) Long-Term Disease Prevention with a Gene Therapy Targeting Oligodendrocytes in a Mouse Model of Adrenomyeloneuropathy. Hum Gene Ther 33:936-949.

Özgür-Günes Y, Le Stunff C, Chedik M, Belot MP, Becker PH, Blouin V, Bougnères P (2022b) Correction of a knock-in mouse model of acrodysostosis with gene therapy using a rAAV9-CAG-human PRKAR1A vector. Gene Ther 29:441-448.

Quan D, Obici L, Berk JL, Ando Y, Aldinc E, White MT, Adams D (2022) Impact of baseline polyneuropathy severity on patisiran treatment outcomes in the APOLLO trial. Amyloid:1-10.

Rupprecht R, Wetzel CH, Dorostkar M, Herms J, Albert NL, Schwarzbach J, Schumacher M, Neumann ID (2022) Translocator protein (18kDa) TSPO: a new diagnostic or therapeutic target for stress-related disorders? Mol Psychiatry 27:2918-2926.

Schmidt HH, Wixner J, Planté-Bordeneuve V, Muñoz-Beamud F, Lladó L, Gillmore JD, Mazzeo A, Li X, Arum S, Jay PY, Adams D (2022) Patisiran treatment in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy after liver transplantation. Am J Transplant 22:1646-1657.

Shao X, Le Stunff C, Cheung W, Kwan T, Lathrop M, Pastinen T, Bougnères P (2022) Differentially methylated CpGs in response to growth hormone administration in children with idiopathic short stature. Clin Epigenetics 14:65.

Weber M, Jaber D, Encha-Razavi F, Julien E, Grevoul-Fesquet J, Steffann J, Melki J, Martinovic J (2022) Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita. Am J Med Genet A 188:2331-2338.

Ye S, Lehmann J (2022) Genetic code degeneracy is established by the decoding center of the ribosome. Nucleic Acids Res.

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.