Site de l'université de Franche-Comté

Publications 2020

  1. Fischer-Zirnsak B, Saha N, Keren B, Neumann A, Taylor-Tavares AL, Rodrigues-lves JG, Sousa AB, De Los Santos MR, Jäger M, Gardeichik T, El Choubassi N, Fauler B, Bertoli-Avella A, Mielke T, Hecht J, Piard J, Meierhofer D, Strom TM,  Wittler L, Spielmann M, Mundlos S, Bauer P, Boute O, Heyd F, Dupont J, Depienne C, Van Maldergem L, Kornak U. A specific homozygous mutation affecting the REtention and Splicing complex subunit BUD13 causes a novel segmental progeroid disorder. Am J Hum Genet Submitted
  2. Brischoux-Boucher E, Dahlen E, Alkuraya FS, Gronier C, Nobili F, Van Maldergem L.(2020). Bifid nose as the sole manifestation of BNAR, a FREM1-related condition Clin Genet Sept 14 [Epub ahead of print]
  3. Delplancq G, Boukebir M-A, Amsallem D, Thines L, Dahlen E, Kuentz P, Van Maldergem L(2020) A unique case of contiguous genes syndrome encompassing Potocki-Shaffer syndrome and WAGR  loci. Submitted
  4. Piard J*, Bereau M*, Xiang-Wei W, Wirth T, Amsallem D, Buisson L, Richard P, Liu N, Xu Y, Myers SJ, TraynelisSF, Chelly J, Anheim M, Raynaud M, Van Maldergem L*, Yuan H* (2020).  The GRIA3 c.2477G>A variant causes a distinctive phenotype of exaggerated startle reflex, chorea and myoclonus. Mov Disord 35:1224-1232
  5. Serey-Gaut M , Scala M, Reversade B, Ruaud L, Cabrol C , Musacchia F, Torella A, Accogli A, Escande-Beillard N, Langlais J, Piatelli G, Consales A, Nigro V, Capra V, Van Maldergem L (2020). Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: a discrete entity. Am J Med Genet March 25 [Epub ahead of print] 
  6.  Faudi E, Brischoux-Boucher E, Huber C, Dabudyk T, Lenoir M, Baujat G, Michot C, Van Maldergem L, Cormier-Daire V, Piard J.(2020) A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy. Eur J Med Genet ;63:103823
  7. Carton de Tournai D, Vandernoot I, Marangoni M, Faverly D, Diaz M, Casagranda A, Berlingin E, Van Maldergem L(2020). CYLD-related cutaneous syndrome: variable p.Pro482fs*6 phenotype in five individuals from two unrelated families. J Eur Acad Dermatol Venereol. 2020 Jul 17[ Epub ahead of print]
  8. Ruaud L, Flöttmann R , Spielmann M , Escande F, Van Maldergem L, Mundlos S , Piard J(2020) Split hand/foot malformation associated with 20p12.1 deletion: A case report. Eur J Med Genet ;63:103805
  9. Lopergolo D, Privitera F, Castello G, Lo Rizzo C,  [...] Van Maldergem [...], Renieri A, Mari F(2020). IQSEC2-mutated patients are under the umbrella of Rett syndrome. Clin Genet (in revision)
  10. McElreavey K, Jorgensen A, Eozenou C, [...] Van Maldergem [...]  Bashamboo A (2020). Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genet Med.;22:150-159.
  11. Liu H, Giguet AG, Simonet T,  Szenker-Ravi E, Lambert L, Vincent-Delorme C,  Touraine R, Reversade B, [...] Van Maldergem [...] Bouvagnet P. Next-Generation Sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy. Hum Mutat ( in revision)
  12. Barbier, M., Chometton, S., Pautrat, A., Miguet-Alfonsi, C., Datiche, F., Gascuel, J., Fellmann, D., Peterschmitt, Y., Coizet, V., Risold, P. Y. (2020). A basal ganglia-like cortical-amygdalar-hypothalamic network mediates feeding behavior. Proceedings of the National Academy of Sciences. Proc Natl Acad Sci U S A. 2020 Jul 7;117(27):15967-15976.
  13. Bouleuc C, Anota A, Cornet C, Grodard G, Thiery-Vuillemin A, Dubroeucq O, Crétineau N, Frasie V, Gamblin V, Chvetzoff G, Favier L, Tournigand C, Grach MC, Raynard B, Salas S, Capodano G, Pazart L, Aubry R. (2020)  Impact on Health-Related Quality of Life of Parenteral Nutrition for Patients with Advanced Cancer Cachexia: Results from a Randomized Controlled Trial. Oncologist.  May;25(5):e843-e851.
  14. Bulteau, S., Laurin, A., Volteau, C., Dert, C., Lagalice, L., Schirr-Bonnans, S., Bukowski, N., Guitteny, M., Simons, L., Cabelguen, […], Bennabi, D., […], Haffen, E., […], C. Riche V.P. (2020). Cost-utility analysis of curative and maintenance repetitive transcranial magnetic stimulation (rTMS) for treatment-resistant unipolar depression: a randomized controlled trial protocol. Trials, 21(1), 1-11.
  15. Cabeza, L., Giustiniani, J., Chabin, T., Ramadan, B., Joucla, C., Nicolier, M., Pazart, L., Haffen, E., Fellmann, D., Gabriel, D, Peterschmitt Y. (2020). Modelling decision-making under uncertainty: A direct comparison study between human and mouse gambling data. European Neuropsychopharmacology, 31, 58-68.
  16. Etievant, A., Haddjeri, N., & Lau, T. (2020). Antidepressants: Molecular Aspects of SSRIs. NeuroPsychopharmacotherapy, 1-19.
  17. Etievant, A., Monnin, J., Lihoreau, T., Tamadazte, B., Rougeot, P., Magnin, E., Tavernier, L., Pazart, L. & Haffen, E. (2020). Comparison of noninvasive imagery methods to observe healthy and degenerated olfactory epithelium in mice for the early diagnosis of neurodegenerative diseases. Neurodegenerative Diseases, 1, Q3.
  18. Giustiniani, J., Nicolier, M., Teti Mayer, J., Chabin, T., Masse, C., Galmès, N., Pazart, L., Trojak, B., Bennabi, D., Vandel, P., Haffen, E., Gabriel, D. (2020) Event-Related Potentials (ERP) Indices of Motivation during the Effort Expenditure for Reward Task. Brain Sci. 10(5):283.
  19. Giustiniani, J., Nicolier, M., Teti Mayer, J., Chabin, T., Masse, C., Galmès, N., Pazart, L., Trojak, B., Bennabi, D., Vandel, P., Haffen, E., Gabriel, D. (2020) Behavioral and Neural Arguments of Motivational Influence on Decision Making During Uncertainty. Front Neurosci. 5;14:583.
  20. Javelot, H., Llorca, P.-M., Meyer, G., Fossati, P., Haffen, E. (2020). Enjeux de l’utilisation des psychotropes dans le cadre de la pandémie au SARS-Cov-2. L’Encéphale.
  21. Lustig JP, Aubry S, Vidal C, Pazart L, Moreau-Gaudry A, Bricault I. (2020) Body interventional procedures: which is the best method for CT guidance?. Eur Radiol.  Mar;30(3):1593-1600.
  22. Mahr, N., Bouhake, Y., Chopard, G., Liu, N., Boichut, N., Chazot, T., Claveau, M., Vettoretti, L., Tio, G., Pili-Flouri, S., Samain, E., Besch, G. (2020). Postoperative neurocognitive disorders after closed-loop versus manual target controlled-infusion of propofol and remifentanil in patients undergoing elective major noncardiac surgery: the randomized controlled POCD-ELA trial. Anesthesia & Analgesia, In Press
  23. Teti Mayer, J.,., Chopard, G., Nicolier, M., Gabriel, D., Masse, C., Giustiniani, J., Vandel, P., Haffen, E., Bennabi, D. (2020). Can transcranial direct current stimulation (tDCS) improve impulsivity in healthy and psychiatric adult populations? A systematic review. Progress in Neuro-Psychopharmacology and Biological Psychiatry, 98(2), 109814.
  24. Mottet N, Cochet C, Vidal C, Metz JP, Aubry S, Bourtembourg A, Eckman-Lacroix A, Riethmuller D, Pazart L, Ramanah R. (2020) Feasibility of two-dimensional ultrasound shear wave elastography of human fetal lungs and liver: A pilot study. Diagn Interv Imaging.  Feb;101(2):69-78.
  25. Olekhnovitch, R., Hoertel, N., Limosin, F., Blanco, C., Olfson, M., Fagot-Campagna, A., Fossati, P., Haffen, E., Goldberg, M., Zins, M., Lemogne, C. (2020). Using filled prescription sequences to rank antidepressants according to their acceptability in the general population: The Constances cohort. Journal of psychiatric research, 123, 72-80.
  26. Pedron, S., Dumontoy, S., Dimauro, J., Haffen, H., Andrieu, P. & Van Waes, V. (2020). Open-tES: An open-source stimulator for transcranial electrical stimulation designed for rodent research. PloS one, 15(7): e0236061.
  27. Samalin, L., Yrondi, A., Charpeaud, T., Genty, J. B., Blanc, O., Sauvaget, A., Stéphan, F., Walter, M., Bennabi, D., Bulteau, S., […], Haffen, E., […], Llorca, P.M. (2020). Adherence to treatment guidelines in clinical practice for using electroconvulsive therapy in major depressive episode. Journal of Affective Disorders, 264, 318-323.
  28. Sauvaget, A., Lagalice, L., Schirr-Bonnans, S., Volteau, C., Péré, M., Dert, C., Rivalland, A., Tessier, F., Lepage, A., Tostivint, A., […], Riche, V.P., DISCO investigators group (2020). Cost-utility analysis of transcranial direct current stimulation (tDCS) in non-treatment-resistant depression: the DISCO randomised controlled study protocol. BMJ Open, 10(1).
  29. Yrondi, A., Aouizerate, B., Bennabi, D., Richieri, R., d'Amato, T., Bellivier, F., [...] Doumy, O., […], Petrucci., J., FondaMental Advanced Centers of Expertise in Resistant Depression (FACE-DR) Collaborators, Haffen E, El-Hage W.(2020). Childhood maltreatment and clinical severity of treatment-resistant depression in a French cohort of outpatients (FACE-DR): One-year follow-up. Depression and anxiety, 37(4), 365-374.
  30. Chabin, T., Gabriel, D., Chansophonkul, T., Michelant, L., Joucla, C., Haffen, E., Moulin, T., Comte, A., & Pazart, L. (2020). Cortical patterns of pleasurable musical chills revealed by High-Density EEG. Frontiers in Neuroscience, 14.
  31. Chabin, T., Tio, G., Comte, A., Joucla, C., Gabriel, D., & Pazart, L. (2020). The Relevance of a Conductor Competition for the Study of Emotional Synchronization Within and Between Groups in a Natural Musical Setting. Frontiers in Psychology, 10, 1664-1078.
  32. Gabriel, D., Chabin, T., Joucla, C., Bussière, T., Tarka, A., Galmes, N., Comte, A., Bertrand, G., Giustiniani, J., & Haffen, E. (2020). An Artistic Approach to Neurofeedback for Emotion Regulation. NeuroRegulation, 7(2), 84-84.
  33. Tatu, L., Nono, S., Grácio, S., Koçer, S. (2020). Guillain-Barré syndrome in the COVID-19 era: another occasional cluster? Journal of Neurology, Jun 23, 1-3.
  34. Decavel, P., Petit, C., Tatu, L, (2020). Tapia syndrome at the time of the COVID-19 pandemic: Lower cranial neuropathy following prolonged intubation. Neurology, 95(7), 312-313.
  35. Pandey, S., Kreisler, A., Dru?d?, A., Biering-Sørensen, B., S?awek, J., Tatu, L., Jost, WH. (2020). Tremor in Idiopathic Cervical Dystonia - Possible Implications for Botulinum Toxin Treatment Considering the Col-Cap Classification. Tremor and Other Hyperkinetic Movements, 10(1), 1-8.
  36. Béreau, M., Kibleur, A., Bouthour, W., Tomkova Chaoui, E., Maling, N., Nguyen, TAK., Momjian, S., Vargas Gomez, MI., Zacharia, A., Bally, JF., Fleury, V., Tatu, L., Burkhard, PR., Krack, P. (2020). Modeling of Electric Fields in Individual Imaging Atlas for Capsular Threshold Prediction of Deep Brain Stimulation in Parkinson's Disease: A Pilot Study. Frontiers in Neurology, 2 Jul 2020.
  37. Jost, WH., Tatu, L., Pandey, S., S?awek, J., Dru?d?, A., Biering-Sørensen, B., Altmann, CF., Kreisler, A (2020). Frequency of different subtypes of cervical dystonia: a prospective multicenter study according to Col-Cap concept. Journal of Neural Transmission, Jan;127(1), 45-50.
  38. Toussirot E, Bereau M, Sevrin P, Tatu L. (2020). An unusual association of CANOMAD and rheumatoid arthritis with a long-term follow-up. Joint Bone Spine, 87 (3), 263-264.
  39. Di Virgilio, G., Grapperon, AM., Fayerstein, J., Goudot, M., Nollet, S., Ochsner, F., Théaudin, M., Truffert, A., Tsouni, P., Vial, C., Wang, FC., Pasquier, J., Tatu, L., Attarian, S., Kuntzer, T (2020). Ulnar neuropathy at the elbow: Reappraisal of the wrist-upper arm latency difference between ulnar and median nerves. Clinical Neurophysiology, 131 (2), 372-376.
  40. Jost, WH., Biering-Sørensen, B., Dru?d?, A., Kreisler, A., Pandey, S., S?awek, J., Tatu L (2020). Preferred muscles in cervical dystonia. Polish Journal of Neurology and Neurosurgery 2020;54(3):277-279.
  41. Bautista-Aguilera, Ó. M., Ismaili, L., Chioua, M., Andrys, R., Schmidt, M., Bzonek, P., Martínez-Grau, M. Á., Beadle, C. D., Vetman, T., López-Muñoz, F. (2020). Acetylcholinesterase Inhibition of Diversely Functionalized Quinolinones for Alzheimer’s Disease Therapy. International Journal of Molecular Sciences, 21(11), 3913.
  42. do Carmo Carreiras, M., Ismaili, L., Marco-Contelles, J. (2020). Propargylamine-derived multi-target directed ligands for Alzheimer’s disease therapy. Bioorganic & Medicinal Chemistry Letters, 30(3), 126880.
  43. Pachòn Angona, I., Daniel, S., Martin, H., Bonet, A., Wnorowski, A., Maj, M., Jó?wiak, K., Silva, T. B., Refouvelet, B., Borges, F. (2020). Design, Synthesis and Biological Evaluation of New Antioxidant and Neuroprotective Multitarget Directed Ligands Able to Block Calcium Channels. Molecules, 25(6), 1329.
  44. Bautista-Aguilera, Ó. M., Ismaili, L., Chioua, M., Iriepa, I., Ángeles Martinez-Grau, M., Beadle, C. D., Vetman, T., López-Muñoz, F., Marco-Contelles, J. (2020). Automated Synthesis of New Quinoxalinetacrines. ChemistrySelect, 5(21), 6491?6493.
  45. Zribi, L., Pachòn-Angona, I., Bautista-Aguilera, Ò. M., Diez-Iriepa, D., Marco-Contelles, J., Ismaili, L., Iriepa, I., Chabchoub, F. (2020). Triazolopyridopyrimidine: A New Scaffold for Dual-Target Small Molecules for Alzheimer’s Disease Therapy. Molecules, 25(14), 319
  46. Andre, C., Lethier, L., Guillaume Y.C. (2020) An organic monolithic capillary Column functionalized with human sérum albumin for the nano chromatography study of its binding with universal cancer peptide and its impact on immunogenicity 1080 10826076.2020..1811727.
  47. Henschel, S., Nandrino, J. L., Pezard, L., Ott, L., Vulliez-Coady, L., & Doba, K. (2020). The influence of attachment styles on autonomic correlates of perspective-taking. Biological Psychology, 107908.
  48. Bujanow, A., Bodenschatz, C. M., Szymanska, M., Kersting, A., Vulliez-Coady, L., & Suslow, T. (2020). The relationship between dispositional attention to feelings and visual attention to emotion. Progress in Neuro-Psychopharmacology and Biological Psychiatry, 100, 109882.
  49. Szymanska, M., Monnin, J., Tio, G., Vidal, C., Nezelof S, Vulliez-Coady, L. (2020). How Oxytocin Modulates Distress and Support-Seeking in Adolescence According to Attachment Style? An Exploratory Eye-Tracking and Neurophysiological Study. Psychology and Behavioral Science,   14(3), 555887.
  50. Chabin, T., Gabriel, D., Haffen, E., Moulin, T., and Pazart, L. (2020). Are the new mobile wireless EEG headsets reliable for the evaluation of musical pleasure? PLoS One 15, e0244820.