Publications 2018

TEAM 1

Le Stunff C, Castell AL, Todd N, Mille C, Belot MP, Frament N, Brailly-Tabard S, Benachi A, Fradin D, Bougneres P (2018) Fetal growth is associated with the CpG methylation of the P2 promoter of the IGF1 gene. Clinical Epigenetics 10:57 (PMID: 29713392) (doi: 10.1186/s13148-018-0489-9)

Su D, Li D, Wang S, Qiao H, Li P, Wang B, Wan H, Schumacher M, Liu S (2018) Hypoglossal-facial nerve « side »-to-side neurorrhaphy for facial paralysis resulting from closed temporal bone fractures. Restor Neurol Neurosci (PMID: 29889081) (doi: 10.3233/rnn-170794)

Wang S, Su D, Li J, Li D, Wan H, Schumacher M, Liu S (2018) Donor nerve axotomy and axonal regeneration after end-to-side neurorrhaphy in a rodent model. J Neurosurg:1-10 (PMID: 29451448) (doi: 10.3171/2017.8.Jns17739)

De Nicola AF, Garay LI, Meyer M, Guennoun R, Sitruk-Ware R, Schumacher M, Gonzalez Deniselle MC (2018) Neurosteroidogenesis and progesterone anti-inflammatory/neuroprotective effects. J Neuroendocrinol 30, in press (PMID: 28675779) (doi: 10.1111/jne.12502)

Gaignard P, Frechou M, Liere P, Therond P, Schumacher M, Slama A, Guennoun R (2018) Sex differences in brain mitochondrial metabolism: influence of endogenous steroids and stroke. J Neuroendocrinol 30, (PMID: 28650095) (doi: 10.1111/jne.12497)

Akwa Y, Gondard E, Mann A, Capetillo-Zarate E, Alberdi E, Matute C, Marty S, Vaccari T, Lozano AM, Baulieu EE, Tampellini D. (2018) Synaptic activity protects against AD and FTD-like pathology via autophagic-lysosomal degradation. Mol Psychiatry. 23:1530-1540 (PMID: 28696431) (doi: 10.1038/mp.2017.142)

Mann A, Gondard E, Tampellini D, Milsted JAT, Marillac D, Hamani C, Kalia SK, Lozano AM. (2018) Chronic deep brain stimulation in an Alzheimer’s disease mouse model enhances memory and reduces pathological hallmarks. Brain Stimul. 11:435-444 (PMID:29246746) (doi: 10.1016/j.brs.2017.11.012)

Audrain M, Souchet B, Alves S, Fol R, Viode A, Haddjeri A, Tada S, Orefice NS, Joséphine C, Bemelmans AP, Delzescaux T, Déglon N, Hantraye P, Akwa Y, Becher F, Billard JM, Potier B, Dutar P, Cartier N, Braudeau J. (2018) βAPP Processing Drives Gradual Tau Pathology in an Age-Dependent Amyloid Rat Model of Alzheimer’s Disease. Cereb Cortex. 28:3976-3993 (PMID: 29048465) (doi: 10.1093/cercor/bhx260)

Berkane N, Liere P, Lefevre G, Alfaidy N, Nahed RA, Vincent J, Oudinet JP, Pianos A, Cambourg A, Rozenberg P, Galichon P, Rousseau A, Simon T, Schumacher M, Chabbert-Buffet N, Hertig A (2018) Abnormal steroidogenesis and aromatase activity in preeclampsia. Placenta. ;69:40-49 (PMID:30213483) (doi: 10.1016/j.placenta.2018.07.004).

Shevchouk OT, Ghorbanpoor S, Smith E, Liere P, Schumacher M, Ball GF, Cornil CA, Balthazart J. 2018. Behavioral evidence for sex steroids hypersensitivity in castrated male canaries. Horm. Behav. 103:80-96 (PMID:29909262) (doi:0.1016/j.yhbeh.2018.06.004).

TEAM 2

Vivanti A, Ozanne A, Grondin C, Saliou G, Quevarec L, Maurey H, Aubourg P, Benachi A, Gut M, Gut I, Martinovic J, Senat MV, Tawk M, Melki J (2018) Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. Brain 141:979-988 (PMID: 29444212) (doi: 10.1093/brain/awy020)

Laouarem Y and Traiffort E (2018) Developmental and Repairing Production of Myelin: The role of Hedgehog Signaling. Front Cell Neurosci 12, doi: 10.3389/fncel.2018.00305.

TEAM 3

Adams D, Gonzalez-Duarte A, O’Riordan WD, Yang CC, Ueda M, Kristen AV, Tournev I, Schmidt HH, Coelho T, Berk JL, Lin KP, Vita G, Attarian S, Plante-Bordeneuve V, Mezei MM, Campistol JM, Buades J, Brannagan TH, 3rd, Kim BJ, Oh J, Parman Y, Sekijima Y, Hawkins PN, Solomon SD, Polydefkis M, Dyck PJ, Gandhi PJ, Goyal S, Chen J, Strahs AL, Nochur SV, Sweetser MT, Garg PP, Vaishnaw AK, Gollob JA, Suhr OB (2018) Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis. N Engl J Med 379:11-21 (PMID: 29972753) (doi: 10.1056/NEJMoa1716153)

Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, Plante-Bordeneuve V, Barroso FA, Merlini G, Obici L, Scheinberg M, Brannagan TH, 3rd, Litchy WJ, Whelan C, Drachman BM, Adams D, Heitner SB, Conceicao I, Schmidt HH, Vita G, Campistol JM, Gamez J, Gorevic PD, Gane E, Shah AM, Solomon SD, Monia BP, Hughes SG, Kwoh TJ, McEvoy BW, Jung SW, Baker BF, Ackermann EJ, Gertz MA, Coelho T (2018) Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. N Engl J Med 379:22-31 (PMID: 29972757) (doi: 10.1056/NEJMoa1716793)

Massaad-Massade L, Boutary S, Caillaud M, Gracia C, Parola B, Gnaouiya SB, Stella B, Arpicco S, Buchy E, Desmaele D, Couvreur P, Urbinati G (2018) New Formulation for the Delivery of Oligonucleotides Using « Clickable » siRNA-Polyisoprenoid-Conjugated Nanoparticles: Application to Cancers Harboring Fusion Oncogenes. Bioconjug Chem 29:1961-1972 (PMID: 29727181) (doi: 10.1021/acs.bioconjchem.8b00205)

Nyangoh Timoh K, Moszkowicz D, Zaitouna M, Lebacle C, Martinovic J, Diallo D, Creze M, Lavoue V, Darai E, Benoit G, Bessede T (2018) Detailed muscular structure and neural control anatomy of the levator ani muscle: a study based on female human fetuses. Am J Obstet Gynecol 2018:121.e121-121.e112 (PMID: 28988909) (doi: 10.1016/j.ajog.2017.09.021)

Rousseau A, Terrada C, Touhami S, Barreau E, Rothschild PR, Valleix S, Benoudiba F, Errera MH, Cauquil C, Guiochon-Mantel A, Adams D, Labetoulle M (2018) Angiographic Signatures of the Predominant Form of Familial Transthyretin Amyloidosis (Val30Met Mutation). Am J Ophthalmol 192:169-177 (PMID: 29859145) (doi: 10.1016/j.ajo.2018.05.023)

Su D, Li D, Wang S, Qiao H, Li P, Wang B, Wan H, Schumacher M, Liu S (2018) Hypoglossal-facial nerve « side-to-side » neurorrhaphy for facial paralysis resulting from closed temporal bone fractures. Restor Neurol Neurosci 36:443-457 (PMID: 29889081) (doi: 10.3233/rnn-170794))

Van Elstraete A, Sitbon P, Hamdi L, Juarez-Perez V, Mazoit JX, Benhamou D, Rougeot C (2018) The Opiorphin Analog STR-324 Decreases Sensory Hypersensitivity in a Rat Model of Neuropathic Pain. Anesth Analg 126:2102-2111 (PMID: 28806211) (doi: 10.1213/ane.0000000000002413)

Wang S, Su D, Li J, Li D, Wan H, Schumacher M, Liu S (2018) Donor nerve axotomy and axonal regeneration after end-to-side neurorrhaphy in a rodent model. J Neurosurg, online (PMID: 29451448) (doi: 10.3171/2017.8.Jns17739)

TEAM 4

Kauskot A, Pascreau T, Adam F, Bruneel A, Reperant C, Lourenco-Rodrigues Md, Rosa Jp, Petermann R, Maurey H, Auditeau C, Lasne D, Denis Cv, Bryckaert M, De Lonlay P, Lavenu-Bombled C, Melki J, Borgel D (2018). A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation. Haematologica. Dec;103(12):e613-e617. doi: 10.3324/haematol.2018.198028.

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A (2018) Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. JAMA Neurology 75:591-599 (PMID: 29482223) (doi: 10.1001/jamaneurol.2017.5121)

Legendre M, Rodriguez-Ballesteros M, Rossi M, Abadie V, Amiel J, Revencu N, Blanchet P, Brioude F, Delrue MA, Doubaj Y, Sefiani A, Francannet C, Holder-Espinasse M, Jouk PS, Julia S, Melki J, Mur S, Naudion S, Fabre-Teste J, Busa T, Stamm S, Lyonnet S, Attie-Bitach T, Kitzis A, Gilbert-Dussardier B, Bilan F (2018) CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. Eur J Hum Genet 26:287-292 (PMID: 29255276) (doi: 10.1038/s41431-017-0007-0)

Costa JM, Letourneau A, Favre R, Bidat L, Belaisch-Allart J, Jouannic JM, Quarello E, Senat MV, Broussin B, Tsatsaris V, Demain A, Kleinfinger P, Lohmann L, Agostini H, Bouyer J, Benachi A (2018) Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study. Genetics in Medicine, in press. (PMID: 29493578) (doi: 10.1038/gim.2018.4)

Ribeil JA, Labopin M, Stanislas A, Deloison B, Lemercier D, Habibi A, Albinni S, Charlier C, Lortholary O, Lefrere F, De Montalembert M, Blanche S, Galacteros F, Treluyer JM, Gluckman E, Ville Y, Joseph L, Delville M, Benachi A, Cavazzana M (2018) Transfusion-related adverse events are decreased in pregnant women with sickle cell disease by a change in policy from systematic transfusion to prophylactic oxygen therapy at home: A retrospective survey by the international sickle cell disease observatory. Am J Hematol 93:794-802 (PMID: 29603363) (doi: 10.1002/ajh.25097)

Shackleford G, Sampathkumar NK, Hichor M, Weill L, Meffre D, Juricek L, Laurendeau I, Chevallier A, Ortonne N, Larousserie F, Herbin M, Bieche I, Coumoul X, Beraneck M, Baulieu EE, Charbonnier F, Pasmant E, Massaad C (2018) Involvement of Aryl hydrocarbon receptor in myelination and in human nerve sheath tumorigenesis. Proc Natl Acad Sci U S A 115:E1319-e1328 (PMID: 29351992) (doi: 10.1073/pnas.1715999115)

Svahn J, Petiot P, Antoine JC, Vial C, Delmont E, Viala K, Steck AJ, Magot A, Cauquil C, Zarea A, Echaniz-Laguna A, Iancu Ferfoglia R, Gueguen A, Magy L, Leger JM, Kuntzer T, Ferraud K, Lacour A, Camdessanche JP (2018) Anti-MAG antibodies in 202 patients: clinicopathological and therapeutic features. J Neurol Neurosurg Psychiatry 89:499-505 (PMID: 29070644) (doi: 10.1136/jnnp-2017-316715)