Publications 2022

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.

Araujo-Chaveron L, Doncarli A, Vivanti AJ, Salanave B, Lasbeur L, Gorza M, Raude J, Regnault N. Perception of the SARS-CoV-2 pandemic by pregnant women during the first lockdown in France: worry, perceived vulnerability, adoption and maintenance of prevention measures according to the Covimater study. Prev Med Rep. 2022 Jun;27:101807. doi: 10.1016/j.pmedr.2022.101807. PMID: 35495869

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.

Bougnères P, Le Fur S, Valleron A-J (2022) Early varicella infection is associated with a delayed onset of childhood type 1 diabetes. Diabetes & Metabolism, 48, 6. https://doi.org/10.1016/j.diabet.2022.101394.

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.

Chappell K, Francou B, Habib C, Huby T, Leoni M, Cottin A, Nadal F, Adnet E, Paoli E, Oliveira C, Verstuyft C, Davit-Spraul A, Gaignard P, Lebigot E, Duclos-Vallee JC, Young J, Kamenicky P, Adams D, Echaniz-Laguna A, Gonzales E, Bouvattier C, Linglart A, Picard V, Bergoin E, Jacquemin E, Guiochon-Mantel A, Proust A, Bouligand. Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory. J.Clin Chem. 2022 Feb 1;68(2):313-321. https://doi.org/10.1093/clinchem/hvab220

De Luca D, Vauloup-Fellous C, Benachi A, Masturzo B, Manzoni P, Vivanti A. The Essentials about Neonatal Severe Acute Respiratory Syndrome Coronavirus 2 Infection and Coronavirus Disease: A Narrative Review. Am J Perinatol. 2022 Dec;39(S 01):S18-S22. doi: 10.1055/s-0042-1758487. PMID: 36356589.

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.

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.

Goudet G, Douet C, Pianos A, Haddad L, , Reigner F, Deleuze S, Liere P.  Saliva and plasma steroidome in mare during reproductive stages: A GC-MS/MS study. Frontiers in Animal Science. 2022. 3, https://doi.org/10.3389/fanim.1055179.hal-03841907.

Kamien B, Clayton JS, Lee HS, Abeysuriya D, McNamara E, Martinovic J, Gonzales M, Melki J, Ravenscroft G. Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B. Neuromuscul Disord. 2022 May;32(5):445-449. doi: 10.1016/j.nmd.2022.03.007. PMID: 35484034.

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. https://doi.org/10.1136/jmedgenet-2020-107595

Leonardi L, Adam C, Beaudonnet G, Beauvais D, Cauquil C, Not A, Morassi O, Benmalek A, Trassard O, Echaniz-Laguna A, Adams D, Labeyrie C. Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis. Eur J Neurol. 2022 May;29(5):1477-1487. https://doi.org/10.1111/ene.15268

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. https://doi.org/10.1242/dev.200640

Mosnino E, Bernardes LS, Mattern J, Hipólito Micheletti B, Aparecida de Castro Maldonado A, Vauloup-Fellous C, Doucet-Populaire F, De Luca D, Benachi A, Vivanti AJ. Impact of SARS-CoV-2 Alpha and Gamma Variants among Symptomatic Pregnant Women: A Two-Center Retrospective Cohort Study between France and Brazil. J Clin Med. 2022 May 9;11(9):2663. doi: 10.3390/jcm11092663. PMID: 35566787

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. https://doi.org/0.1089/hum.2021.293

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.

Peillet C, Adams D, Attarian S, Bouhour F, Cauquil C, Cassereau J, Chanson JB, Cintas P, Creange A, Delmont E, Fargeot G, Genestet S, Gueguen A, Kaminsky AL, Kuntzer T, Labeyrie C, Michaud M, Pereon Y, Puma A, Viala K, Chretien P, Adam C, Echaniz-Laguna A. Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective study. Eur J Neurol. 2022 Dec;29(12):3547-3555. https://doi.org/10.1111/ene.15523

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.

Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group.Orphanet. Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy. J Rare Dis. 2022 Mar 2;17(1):96. https://doi.org/10.1186/s13023-021-01793-6

Savvatis K, Vissing CR, Klouvi L, Florian A, Rahman M, Béhin A, Fayssoil A, Masingue M, Stojkovic T, Bécane HM, Berber N, Mochel F, Duboc D, Fontaine B, Krett B, Stalens C, Lejeune J, Pitceathly RDS, Lopes L, Saadi M, Gossios T, Procaccio V, Spinazzi M, Tard C, De Groote P, Dhaenens CM, Douillard C, Echaniz-Laguna A, Quinlivan R, Hanna MG, Yilmaz A, Vissing J, Laforêt P, Elliott P, Wahbi K. Cardiac Outcomes in Adults With Mitochondrial Diseases. J Am Coll Cardiol. 2022 Oct 11;80(15):1421-1430. https://doi.org/10.1016/j.jacc.2022.08.716

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. https://doi.org/10.1111/ajt.17009

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.

Tas B, Starnoni D, Smajda S, Vivanti AJ, Adamsbaum C, Eyries M, Melki J, Tawk M, Ozanne A, Revencu N, Soubrier F, Siala S, Vikkula M, Deiva K, Saliou G. Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype. Front Pediatr. 2022 Apr 25;10:871565. doi: 10.3389/fped.2022.871565. PMID: 35547535

Téteau O, Liere P, Desmarchais A, Lasserre O, Papillier P, Vignault C, Lebachelier De La Riviere ME, Maillard V, Binet A,  Uzbekova S, Saint-Dizier M, Elis S.  Bisphenol S alters the steroidome in the preovulatory follicle, oviduct fluid and plasma in ewes with contrasted metabolic status. Frontiers in Endocrinology. 2022. 13, 892213.  https://doi.org/10.3389/fendo.2022.892213.

Traschütz A, Wilke C, Haack TB, Bender B; RFC1 Study Group; Synofzik M. Sensory axonal neuropathy in RFC1-disease: tip of the iceberg of broad subclinical multisystemic neurodegeneration. Brain. 2022 Apr 29;145(3):e6-e9. https://doi.org/10.1093/brain/awac003

Vivanti AJ, Nhung NTH, Ha CTT, Cong NH, Bac DV, de Thorey AG, Benachi A, Deffieux X, Le DTH. Successful conservative management of a spontaneous hemorrhagic uterine rupture at 18 weeks of gestation. J Gynecol Obstet Hum Reprod. 2022 Jun;51(6):102396. doi: 10.1016/j.jogoh.2022.102396. PMID: 35489714

Vivanti AJ, Vauloup-Fellous C, Escourrou G, Rosenblatt J, Jouannic JM, Laurent-Bellue A, De Luca D. Factors associated with SARS-CoV-2 transplacental transmission. Am J Obstet Gynecol. 2022 Sep;227(3):541-543.e11. doi: 10.1016/j.ajog.2022.05.015. PMID: 35562049

Vivanti AJ, Fesquet S, Gabriel D, Letourneau A, Crenn-Hebert C, De Luca D, Bouyer J, Novelli S, Benachi A, Veil R. Impact of the 1st Wave of the COVID-19 Pandemic and Lockdown on In Utero Transfer Activity in the Paris Area, France. J Clin Med. 2022 Aug 18;11(16):4850. doi: 10.3390/jcm11164850. PMID: 36013088

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.