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Page 1
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: stoltenburg c. Genet Med. 2023 Feb;25(2):100004. doi: 10.1016/j.gim.2022.100004. Genet Med. 2023. PMID: 36745127 Free PMC article. No abstract available.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Caron V, Chassaing N, Ragge N, Boschann F, Ngu AM, Meloche E, Chorfi S, Lakhani SA, Ji W, Steiner L, Marcadier J, Jansen PR, van de Pol LA, van Hagen JM, Russi AS, Le Guyader G, Nordenskjöld M, Nordgren A, Anderlid BM, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan FF, Lefebvre M, Attie-Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont ML, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski JR, Calame DG, Geneviève D, Chatron N, Schluth-Bolard C, Myers KA, Dobyns WB, Calvas P; DDD Study; Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin DM, Tremblay A, Michaud JL. Caron V, et al. Among authors: stoltenburg c. Genet Med. 2023 Aug;25(8):100856. doi: 10.1016/j.gim.2023.100856. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37092537 Free PMC article.
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
Weiß C, Becker LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner GM, Cirak S, Hasselmann O, Kaindl AM, Garbade SF, Johannsen J, Ziegler A; SMArtCARE and Swiss-Reg-NMD study group. Weiß C, et al. Lancet Reg Health Eur. 2024 Oct 7;47:101092. doi: 10.1016/j.lanepe.2024.101092. eCollection 2024 Dec. Lancet Reg Health Eur. 2024. PMID: 39434961 Free PMC article.
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann … See abstract for full author list ➔ Schmidt A, et al. Among authors: stoltenburg c. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Epilepsy as a Novel Phenotype of BPTF-Related Disorders.
Ferretti A, Furlan M, Glinton KE, Fenger CD, Boschann F, Amlie-Wolf L, Zeidler S, Moretti R, Stoltenburg C, Tarquinio DC, Furia F, Parisi P, Rubboli G, Devinsky O, Mignot C, Gripp KW, Møller RS, Yang Y, Stankiewicz P, Gardella E. Ferretti A, et al. Among authors: stoltenburg c. Pediatr Neurol. 2024 Sep;158:17-25. doi: 10.1016/j.pediatrneurol.2024.06.001. Epub 2024 Jun 11. Pediatr Neurol. 2024. PMID: 38936258
Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life.
Steffens P, Weiss D, Perez A, Appel M, Weber P, Weiss C, Stoltenburg C, Ehinger U, von der Hagen M, Schallner J, Claussen B, Lode I, Hahn A, Schuler R, Ruß L, Ziegler A, Denecke J, Johannsen J. Steffens P, et al. Among authors: stoltenburg c. Eur J Paediatr Neurol. 2024 Jul;51:17-23. doi: 10.1016/j.ejpn.2024.05.002. Epub 2024 May 8. Eur J Paediatr Neurol. 2024. PMID: 38772209 Free article.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. JAMA Pediatr. 2024 Jun 1;178(6):540-547. doi: 10.1001/jamapediatrics.2024.0492. JAMA Pediatr. 2024. PMID: 38587854 Clinical Trial.
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Sczakiel HL, Zhao M, Wollert-Wulf B, Danyel M, Ehmke N, Stoltenburg C, Damseh N, Al-Ashhab M, Balci TB, Osmond M, Andrade A, Schallner J, Porrmann J, McDonald K, Liao M, Oppermann H, Platzer K, Dierksen N, Mojarrad M, Eslahi A, Bakaeean B, Calame DG, Lupski JR, Firoozfar Z, Seyedhassani SM, Mohammadi SA, Anwaar N, Rahman F, Seelow D, Janz M, Horn D, Maroofian R, Boschann F. Sczakiel HL, et al. Among authors: stoltenburg c. Eur J Hum Genet. 2023 Aug;31(8):905-917. doi: 10.1038/s41431-023-01382-0. Epub 2023 May 15. Eur J Hum Genet. 2023. PMID: 37188825 Free PMC article.
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch JC, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE Study Group. Pechmann A, et al. Among authors: stoltenburg c. J Neuromuscul Dis. 2023;10(1):29-40. doi: 10.3233/JND-221600. J Neuromuscul Dis. 2023. PMID: 36565133 Free PMC article.
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain RA, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Orphanet J Rare Dis. 2022 Oct 23;17(1):384. doi: 10.1186/s13023-022-02547-8. Orphanet J Rare Dis. 2022. PMID: 36274155 Free PMC article.
19 results