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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortiu… See abstract for full author list ➔ May P, et al. Among authors: schubert j. Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17. Lancet Neurol. 2018. PMID: 30033060 Free article.
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.
Striano P, Weber YG, Toliat MR, Schubert J, Leu C, Chaimana R, Baulac S, Guerrero R, LeGuern E, Lehesjoki AE, Polvi A, Robbiano A, Serratosa JM, Guerrini R, Nürnberg P, Sander T, Zara F, Lerche H, Marini C; EPICURE Consortium. Striano P, et al. Among authors: schubert j. Neurology. 2012 Feb 21;78(8):557-62. doi: 10.1212/WNL.0b013e318247ff54. Epub 2012 Jan 25. Neurology. 2012. PMID: 22282645
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.
Lerche H, Berkovic SF, Lowenstein DH; EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project. Lerche H, et al. N Engl J Med. 2019 Apr 18;380(16):e24. doi: 10.1056/NEJMc1805100. N Engl J Med. 2019. PMID: 30995385 No abstract available.
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko M, Elseed MA, Mohammed IN, Hamed AA, Abd Allah ASI, Yahia A, Siddig RA, Altmüller J, Toliat MR, Elmahdi EO, Amin M, Ahmed EA, Eltazi IZM, Elmugadam FA, Abdelgadir WA, Eltaraifee E, Ibrahim MOM, Ali NMH, Malik HM, Babai AM, Bakhit YH, Nürnberg P, Ibrahim ME, Salih MA, Schubert J, Elsayed LEO, Lerche H. Koko M, et al. Among authors: schubert j. Eur J Hum Genet. 2024 Feb 5. doi: 10.1038/s41431-024-01541-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38316952
Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.
Luo M, Wong D, Zelley K, Wu J, Schubert J, Denenberg EH, Fanning EA, Chen J, Gallo D, Golenberg N, Patel M, Conlin LK, Maxwell KN, Wertheim GB, Surrey LF, Zhong Y, Brodeur GM, MacFarland SP, Li MM. Luo M, et al. Among authors: schubert j. J Natl Cancer Inst. 2024 May 3:djae102. doi: 10.1093/jnci/djae102. Online ahead of print. J Natl Cancer Inst. 2024. PMID: 38702830
Brain Fluid Clearance After Traumatic Brain Injury Measured Using Dynamic Positron Emission Tomography.
Butler T, Schubert J, Karakatsanis NA, Hugh Wang X, Xi K, Kang Y, Chen K, Zhou L, Fung EK, Patchell A, Jaywant A, Li Y, Chiang G, Glodzik L, Rusinek H, de Leon M, Turkheimer F, Shah SA. Butler T, et al. Among authors: schubert j. Neurotrauma Rep. 2024 Apr 10;5(1):359-366. doi: 10.1089/neur.2024.0010. eCollection 2024. Neurotrauma Rep. 2024. PMID: 38655117 Free PMC article.
Remission induction versus immediate allogeneic haematopoietic stem cell transplantation for patients with relapsed or poor responsive acute myeloid leukaemia (ASAP): a randomised, open-label, phase 3, non-inferiority trial.
Stelljes M, Middeke JM, Bug G, Wagner-Drouet EM, Müller LP, Schmid C, Krause SW, Bethge W, Jost E, Platzbecker U, Klein SA, Schubert J, Niederland J, Kaufmann M, Schäfer-Eckart K, Schaich M, Baldauf H, Stölzel F, Petzold C, Röllig C, Alakel N, Steffen B, Hauptrock B, Schliemann C, Sockel K, Lang F, Kriege O, Schaffrath J, Reicherts C, Berdel WE, Serve H, Ehninger G, Schmidt AH, Bornhäuser M, Mikesch JH, Schetelig J; Study Alliance Leukemia and the German Cooperative Transplant Study Group. Stelljes M, et al. Among authors: schubert j. Lancet Haematol. 2024 May;11(5):e324-e335. doi: 10.1016/S2352-3026(24)00065-6. Epub 2024 Apr 4. Lancet Haematol. 2024. PMID: 38583455 Free article. Clinical Trial.
Dexamethasone treatment for COVID-19 is related to increased mortality in hematologic malignancy patients: results from the EPICOVIDEHA Registry.
Aiello TF, Salmanton-Garcia J, Marchesi F, Weinbergerova B, Glenthoj A, Van Praet J, Farina F, Davila-Valls J, Martin-Perez S, El-Ashwah S, Schonlein M, Falces-Romero I, Labrador J, Sili U, Buquicchio C, Vena A, Plantefeve G, Petzer V, Biernat MM, Lahmer T, Espigado I, Van Doesum J, Blennow O, Piukovics K, Tascini C, Samarkos M, Bilgin YM, Fianchi L, Itri F, Valković T, Fracchiolla NS, Dargenio M, Jimenez M, Magyari F, Lopez-Garcia A, Prezioso L, Čolović N, Shumilov E, Abu-Zeinah G, Krekeler C, Lavilla-Rubira E, Papa MV, Gonzalez-Lopez TJ, Pinczes LI, Demirkan F, Ali N, Besson C, Fouquet G, Romano A, Hernandez-Rivas JA, Del Principe MI, Aujayeb A, Merelli M, Lamure S, De Almeida JM, Da Silva MG, Eisa N, Meletiadis J, Rinaldi I, Finizio O, Jaksic O, Delia M, Nizamuddin S, Marchetti M, Ijaz M, Machado M, Bailen-Almorox R, Čerňan M, Coppola N, Gavriilaki E, Cattaneo C, Groh A, Stojanoski Z, Erben N, Pantic N, Mendez GA, Di Blasi R, Meers S, De Ramon C, Bahr NC, Emarah Z, Varricchio G, Cvetanoski M, Garcia-Sanz R, Mitrovic M, Lievin R, Hanakova M, Račil Z, Vehreschild M, Tragiannidis A, Rodrigues RN, Garcia-Bordallo D, Cordoba R, Cabirta A, Nordlander A, Ammatuna E, Arellano E, Wolf D… See abstract for full author list ➔ Aiello TF, et al. Haematologica. 2024 Apr 4. doi: 10.3324/haematol.2023.284678. Online ahead of print. Haematologica. 2024. PMID: 38572549 Free article.
1,267 results