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Items: 1 to 20 of 1291

1.

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.

Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S.

J Med Genet. 2020 Feb 3. pii: jmedgenet-2019-106474. doi: 10.1136/jmedgenet-2019-106474. [Epub ahead of print]

PMID:
32015000
2.

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A, Auvin S, Duffourd Y, Klafack S, Zieba BA, Mahmoudi S, Singh KK, Duplomb L, Thauvin-Robinet C, Costa JM, Krüger E, Trost D, Verloes A, Faivre L, Vitobello A.

Clin Genet. 2020 Jan 29. doi: 10.1111/cge.13709. [Epub ahead of print]

PMID:
31997314
3.

Prophylactic hydrocortisone in extremely preterm infants and brain MRI abnormality.

Alison M, Tilea B, Toumazi A, Biran V, Mohamed D, Alberti C, Bourmaud A, Baud O; PREMILOC Trial group.

Arch Dis Child Fetal Neonatal Ed. 2020 Jan 24. pii: fetalneonatal-2019-317720. doi: 10.1136/archdischild-2019-317720. [Epub ahead of print]

PMID:
31980445
4.

Kaposi sarcoma among people living with HIV in the French DAT'AIDS cohort between 2010 and 2015.

Poizot-Martin I, Obry-Roguet V, Duvivier C, Lions C, Huleux T, Jacomet C, Ferry T, Cheret A, Allavena C, Bani-Sadr F, Palich R, Cabié A, Fresard A, Pugliese P, Delobel P, Lamaury I, Hustache-Mathieu L, Brégigeon S, Makinson A, Rey D; Dat'AIDS study group.

J Eur Acad Dermatol Venereol. 2020 Jan 17. doi: 10.1111/jdv.16204. [Epub ahead of print]

PMID:
31953902
5.

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Barcia G, Chemaly N, Kuchenbuch M, Eisermann M, Gobin-Limballe S, Ciorna V, Macaya A, Lambert L, Dubois F, Doummar D, Billette de Villemeur T, Villeneuve N, Barthez MA, Nava C, Boddaert N, Kaminska A, Bahi-Buisson N, Milh M, Auvin S, Bonnefont JP, Nabbout R.

Neurol Genet. 2019 Oct 25;5(6):e363. doi: 10.1212/NXG.0000000000000363. eCollection 2019 Dec.

6.

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

Huin V, Barbier M, Bottani A, Lobrinus JA, Clot F, Lamari F, Chat L, Rucheton B, Fluchère F, Auvin S, Myers P, Gelot A, Camuzat A, Caillaud C, Jornéa L, Forlani S, Saracino D, Duyckaerts C, Brice A, Durr A, Le Ber I.

Brain. 2020 Jan 1;143(1):303-319. doi: 10.1093/brain/awz377.

PMID:
31855245
7.

Felbamate for infantile spasms syndrome resistant to first-line treatments.

Dozières-Puyravel B, Nasser H, Bellavoine V, Ilea A, Delanoe C, Auvin S.

Dev Med Child Neurol. 2019 Dec 18. doi: 10.1111/dmcn.14427. [Epub ahead of print]

PMID:
31850517
8.

Succinate detection using in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas.

Lussey-Lepoutre C, Bellucci A, Burnichon N, Amar L, Buffet A, Drossart T, Fontaine S, Clement O, Benit P, Rustin P, Groussin L, Meatchi T, Gimenez-Roqueplo AP, Tavitian B, Favier J.

Eur J Nucl Med Mol Imaging. 2019 Dec 13. doi: 10.1007/s00259-019-04633-9. [Epub ahead of print]

PMID:
31834447
9.

Endoplasmic reticulum and Golgi stress in microcephaly.

Passemard S, Perez F, Gressens P, El Ghouzzi V.

Cell Stress. 2019 Oct 30;3(12):369-384. doi: 10.15698/cst2019.12.206. Review.

11.

Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial.

Nabbout R, Mistry A, Zuberi S, Villeneuve N, Gil-Nagel A, Sanchez-Carpintero R, Stephani U, Laux L, Wirrell E, Knupp K, Chiron C, Farfel G, Galer BS, Morrison G, Lock M, Agarwal A, Auvin S; FAiRE, DS Study Group.

JAMA Neurol. 2019 Dec 2. doi: 10.1001/jamaneurol.2019.4113. [Epub ahead of print]

12.

Neurons Expressing Pathological Tau Protein Trigger Dramatic Changes in Microglial Morphology and Dynamics.

Hassan-Abdi R, Brenet A, Bennis M, Yanicostas C, Soussi-Yanicostas N.

Front Neurosci. 2019 Nov 7;13:1199. doi: 10.3389/fnins.2019.01199. eCollection 2019.

13.

Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions.

Auvin S, Avbersek A, Bast T, Chiron C, Guerrini R, Kaminski RM, Lagae L, Muglia P, Cross JH.

Drugs. 2019 Dec;79(18):1917-1935. doi: 10.1007/s40265-019-01223-9. Review.

PMID:
31734883
14.

THE CONCISE GUIDE TO PHARMACOLOGY 2019/20: G protein-coupled receptors.

Alexander SPH, Christopoulos A, Davenport AP, Kelly E, Mathie A, Peters JA, Veale EL, Armstrong JF, Faccenda E, Harding SD, Pawson AJ, Sharman JL, Southan C, Davies JA; CGTP Collaborators.

Br J Pharmacol. 2019 Dec;176 Suppl 1:S21-S141. doi: 10.1111/bph.14748.

15.

Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells.

Bénit P, Kahn A, Chretien D, Bortoli S, Huc L, Schiff M, Gimenez-Roqueplo AP, Favier J, Gressens P, Rak M, Rustin P.

PLoS One. 2019 Nov 7;14(11):e0224132. doi: 10.1371/journal.pone.0224132. eCollection 2019.

16.

History of dietary treatment from Wilder's hypothesis to the first open studies in the 1920s.

Höhn S, Dozières-Puyravel B, Auvin S.

Epilepsy Behav. 2019 Dec;101(Pt A):106588. doi: 10.1016/j.yebeh.2019.106588. Epub 2019 Oct 30. Review.

PMID:
31677579
17.

Decreased microglial Wnt/β-catenin signalling drives microglial pro-inflammatory activation in the developing brain.

Van Steenwinckel J, Schang AL, Krishnan ML, Degos V, Delahaye-Duriez A, Bokobza C, Csaba Z, Verdonk F, Montané A, Sigaut S, Hennebert O, Lebon S, Schwendimann L, Le Charpentier T, Hassan-Abdi R, Ball G, Aljabar P, Saxena A, Holloway RK, Birchmeier W, Baud O, Rowitch D, Miron V, Chretien F, Leconte C, Besson VC, Petretto EG, Edwards AD, Hagberg H, Soussi-Yanicostas N, Fleiss B, Gressens P.

Brain. 2019 Dec 1;142(12):3806-3833. doi: 10.1093/brain/awz319.

PMID:
31665242
18.

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.

Catania A, Iuso A, Bouchereau J, Kremer LS, Paviolo M, Terrile C, Bénit P, Rasmusson AG, Schwarzmayr T, Tiranti V, Rustin P, Rak M, Prokisch H, Schiff M.

Orphanet J Rare Dis. 2019 Oct 29;14(1):236. doi: 10.1186/s13023-019-1185-3.

19.

Evolutionary Gain of Dbx1 Expression Drives Subplate Identity in the Cerebral Cortex.

Arai Y, Cwetsch AW, Coppola E, Cipriani S, Nishihara H, Kanki H, Saillour Y, Freret-Hodara B, Dutriaux A, Okada N, Okano H, Dehay C, Nardelli J, Gressens P, Shimogori T, D'Onofrio G, Pierani A.

Cell Rep. 2019 Oct 15;29(3):645-658.e5. doi: 10.1016/j.celrep.2019.09.007.

20.

Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide.

Georges P, Boza-Moran MG, Gide J, Pêche GA, Forêt B, Bayot A, Rustin P, Peschanski M, Martinat C, Aubry L.

Sci Rep. 2019 Oct 10;9(1):14568. doi: 10.1038/s41598-019-49870-y.

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