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Page 1
Mutation update for the SATB2 gene.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Zarate YA, et al. Among authors: schwab m. Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31021519 Free PMC article. Review.
Immunogenomic determinants of exceptional response to immune checkpoint inhibition in renal cell carcinoma.
Jammihal T, Saliby RM, Labaki C, Soulati H, Gallegos J, Peris A, McCurry D, Yu C, Shah V, Poduval D, El Zarif T, El Ahmar N, Laimon YN, Eid M, Sheshdeh AB, Krajewski KM, Büttner FA, Schwab M, Heng D, Casellas RC, Rai K, Zacharias Millward NM, Msaouel P, Karam J, Signoretti S, Van Allen E, Choueiri TK, Braun DA, Shukla SA. Jammihal T, et al. Among authors: schwab m. Nat Cancer. 2025 Jan 9. doi: 10.1038/s43018-024-00896-w. Online ahead of print. Nat Cancer. 2025. PMID: 39789182
Real-world multicentre cohort study on choices and effectiveness of immunotherapies in NMOSD and MOGAD.
Häußler V, Trebst C, Engels D, Pellkofer H, Havla J, Duchow A, Schindler P, Schwake C, Pakeerathan T, Fischer K, Ringelstein M, Lindenblatt G, Hümmert MW, Tkachenko D, Bütow F, Giglhuber K, Flaskamp M, Schiffmann I, Korporal-Kuhnke M, Jarius S, Dawin E, Revie L, Senel M, Herfurth M, Walter A, Pompsch M, Kleiter I, Angstwurm K, Kaste M, Grothe M, Wickel J, Rommer PS, Sieb JP, Krämer M, Then Bergh F, Tumani H, Klotz L, Wildemann B, Aktas O, Ayzenberg I, Bellmann-Strobl J, Paul F, Kümpfel T, Friede T, Berthele A, Stellmann JP; Neuromyelitis optica study group (NEMOS). Häußler V, et al. J Neurol Neurosurg Psychiatry. 2024 Dec 27:jnnp-2024-334764. doi: 10.1136/jnnp-2024-334764. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 39730197 Free article.
Safety and efficacy of intrathecal antibodies to Nogo-A in patients with acute cervical spinal cord injury: a randomised, double-blind, multicentre, placebo-controlled, phase 2b trial.
Weidner N, Abel R, Maier D, Röhl K, Röhrich F, Baumberger M, Hund-Georgiadis M, Saur M, Benito J, Rehahn K, Aach M, Badke A, Kriz J, Barkovits K, Killeen T, Farner L, Seif M, Hubli M, Marcus K, Maurer MA, Robert B, Rupp R, Scheuren PS, Schubert M, Schuld C, Sina C, Steiner B, Weis T, Hug A, Bolliger M, Weiskopf N, Freund P, Hothorn T, Schwab ME, Curt A; Nogo Inhibition in Spinal Cord Injury Study Group. Weidner N, et al. Among authors: schwab me. Lancet Neurol. 2025 Jan;24(1):42-53. doi: 10.1016/S1474-4422(24)00447-2. Lancet Neurol. 2025. PMID: 39706632 Free article. Clinical Trial.
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.
Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Mendes M, Reuter MS, Anagnostou E, MacDonald JR, Ko SY, Frankland PW, Charlebois J, Elsabbagh M, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV; Undiagnosed Diseases Network; Douine ED, Corona RI, Russell BE, Nelson SF, Graziano C, Schwab M, Simone L, Zara F, Scherer SW. Scala M, et al. Among authors: schwab m. Am J Hum Genet. 2025 Jan 2;112(1):154-167. doi: 10.1016/j.ajhg.2024.11.003. Epub 2024 Dec 19. Am J Hum Genet. 2025. PMID: 39706195
Ticagrelor vs Prasugrel for Acute Coronary Syndrome in Routine Care.
Krüger N, Krefting J, Kessler T, Schmieder R, Starnecker F, Dutsch A, Graesser C, Meyer-Lindemann U, Storz T, Pugach I, Frieß C, Chen Z, Bongiovanni D, Manea I, Dreischulte T, Offenborn F, Krase P, Sager HB, Wiebe J, Kufner S, Xhepa E, Joner M, Trenkwalder T, Gueldener U, Kastrati A, Cassese S, Schunkert H, von Scheidt M; DigiMed Bayern Consortium. Krüger N, et al. JAMA Netw Open. 2024 Dec 2;7(12):e2448389. doi: 10.1001/jamanetworkopen.2024.48389. JAMA Netw Open. 2024. PMID: 39621344 Free PMC article.
Author Correction: Mobilise-D insights to estimate real-world walking speed in multiple conditions with a wearable device.
Kirk C, Küderle A, Micó-Amigo ME, Bonci T, Paraschiv-Ionescu A, Ullrich M, Soltani A, Gazit E, Salis F, Alcock L, Aminian K, Becker C, Bertuletti S, Brown P, Buckley E, Cantu A, Carsin AE, Caruso M, Caulfield B, Cereatti A, Chiari L, D'Ascanio I, Garcia-Aymerich J, Hansen C, Hausdorff JM, Hiden H, Hume E, Keogh A, Kluge F, Koch S, Maetzler W, Megaritis D, Mueller A, Niessen M, Palmerini L, Schwickert L, Scott K, Sharrack B, Sillén H, Singleton D, Vereijken B, Vogiatzis I, Yarnall AJ, Rochester L, Mazzà C, Eskofier BM, Del Din S; Mobilise-D consortium. Kirk C, et al. Sci Rep. 2024 Nov 21;14(1):28878. doi: 10.1038/s41598-024-79454-4. Sci Rep. 2024. PMID: 39572620 Free PMC article. No abstract available.
1,904 results