Publications en rapport avec les thèmes de recherche de l’EA3808 (maladie d’Alzheimer & maladies génétiques rares)

Busa T, Legendre M, Bauge M, Quarello E, Bretelle F, Bilan F, Sigaudy S, Gilbert-Dussardier B, Philip N. Prenatal Findings in Children with early postnatal diagnosis of CHARGE Syndrome. Prenat Diagn. 2016 Apr 9. doi: 10.1002/pd.4825.

Domene A, Cavanagh C, Page G, Bodard S, Klein C, Delarasse C, Chalon S, Krantic S. Expression of phenotypic astrocyte marker is increased in a transgenic mouse model of Alzheimer’s diseases versus age-matched controls: a presymptomatic stage study. Int J Alzheimers Dis20165696241. doi: 10.1155/2016/5696241. Epub 2016 Sep 8.

El-Seedy A, Pasquet MC , Shafiek H, Morsi T, Kitzis ALadevèze V2016, Cystic Fibrosis Transmembrane  Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt. Cell. Mol. Biol2016, 62 (13): 21-28. ISSN: 1165-158X doi: 10.14715/cmb/2016.62.13.5

François AJulian A, Ragot S, Dugast E, Blanchard L, Brishoual S, Terro F, Chassaing DPage G*Paccalin M**co-last authors. Inflammatory Stress on Autophagy in Peripheral Blood Mononuclear Cells from Patients with Alzheimer’s Disease during 24 Months of Follow-Up. PLoS One. 2016 Mar 15;11(3):e0143933.

Gilbert-Dussardier B,  Briand A, Laurendeau I, Bilan F, Cavé H,  Verloes A, Vidaud D,  Pasmant E. Copy number variants and rasopathies: description of a germline KRAS duplication in a patient with syndrome including pigmentation abnormalities. OJRD 2016, 11 : 101, sous presse

Guillard J, Page G, Perrona F, Rioux Bilan A. La trans ε-viniférine et la maladie d’Alzheimer. Une issue thérapeutique ? L’actualité chimique – novembre 2016 – n° 412

Ladeveze V, Farhat R, El Seedy A and Kitzis A, 2016, Multi-Functional Consequences of a Single Mutation of CFTR of the Importance to Analyze Mutations by Functional Tests. Single Cell Biol5:2.

Klionsky Daniel J, … Francois A,…. Page G, … et al. Guidelines for the Use and Interpretation of Assays for Monitoring Autophagy (2nd edition). Autophagy 2016 Jan 2;12(1):1-222. doi: 10.1080/15548627.2015.1100356..

Naoufal R, Legendre M, Couet D, Gilbert-Dussardier BKitzis ABilan F, Harbuz R. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability. 2016 Eur J Med Genet,   [IF : 1,466]

Reymond A, Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, Ilse van der Werf I … Jacquemont S and 16p11.2 Consortium. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Molecular Psychiatry, 2016 May 31. doi: 10.1038/mp.2016.84. [IF : 13,204]

Autres publications

Colin O, Julian A, Puyade M, Bouyer S, Meurin E, Blondeau S, Houeto JL, Neau JP. [Relapse of acute promyelocytic leukemia in the central nervous system revealed by isolated dementia]. Rev Med Interne. 2016 Mar 25. pii: S0248-8663(16)00083-7. doi: 10.1016/j.revmed.2016.02.015. French.

Dupuis-Girod S,  Ambrun A, Decullier E, Fargeton AE,  Roux A,   Bréant V, Colombet B,  Rivière S, Cartier C, Lacombe P,  Chinet T, Blondel JH,  Gilbert-Dussardier B, Dufour X, Harle JR, Dessi P  and Faure F. Bevacizumab nasal spray as a treatment for epistaxis in Hemorrhagic Hereditary Telangectasia. 2016, JAMA, Sep 6;316(9):934-942. [IF : 7,48]

Hyon C, Chantot-Bastaraud S, Harbuz R, Bhouri R, Perrot N, Peycelon M, Sibony M, Rojo S, Piguel X, Bilan F, Gilbert-Dussardier B, Kitzis A, McElreavey K, Siffroi JP, Bashamboo A. Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD). Am J Med Genet A. 2015 Aug;167A(8):1851-8. doi: 10.1002/ajmg.a.37101 [IF : 9,025]

Mathis S, Couratier P, Julian A, Vallat JM, Corcia P, Le Masson G. Management and therapeutic perspectives in amyotrophic lateral sclerosis. Expert Rev Neurother. 2016 Sep 20:1-14.

Mathis S, Godenèche G, Haroche J, Milin S, Julian A, Berthomet A, Baron C, Palazzo P, Neau JP. Long-term outcome of basilar stenosis in Erdheim-Chester disease: A case report. Medicine (Baltimore). 2016 Sep;95(36):e4813. doi: 10.1097/MD.0000000000004813.

Reymond A, Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, Ilse van der Werf I … Sébastien Jacquemont and 16p11.2 Consortium. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Molecular Psychiatry, 2016 May 31. doi: 10.1038/mp.2016.84.

Chapitre de livre

François AVérité JRioux Bilan AJanet T, Calon F, Fauconneau B, Paccalin M and Page G. mTOR signalling pathway in neurodegenerative diseases, chapter 11 in Molecules to Medicine with mTOR: Translating Critical Pathways of the Mammalian Target of Rapamycin Into Novel Therapeutic Strategies, Kenneth Maiese, Elsevier Science & Technology Books, 26 feb 2016 – 512 pages.