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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1995 2
1996 4
1997 2
1998 1
1999 2
2000 1
2003 1
2004 3
2005 5
2006 2
2009 1
2014 2
2015 3
2016 6
2017 5
2018 6
2019 6
2021 2
2023 1
2024 0

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53 results

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Page 1
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: hortnagel k. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Monogenic human skin disorders.
Lemke JR, Kernland-Lang K, Hörtnagel K, Itin P. Lemke JR, et al. Among authors: hortnagel k. Dermatology. 2014;229(2):55-64. doi: 10.1159/000362200. Epub 2014 Jul 8. Dermatology. 2014. PMID: 25012694 Free article. Review.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R. Rattay TW, et al. Among authors: hortnagel k. Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102. Brain. 2019. PMID: 31135052 Free PMC article.
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.
Witzel MGW, Gebhard C, Wenzel S, Kleier S, Eichhorn B, Lorenz P, von der Heyden L, Kuhn M, Luedeke M, Döcker M, Jüngling J, Schulte B, Hörtnagel K, Glaubitz R, Knippenberger S, Teubert A, Abicht A, Neuhann TM. Witzel MGW, et al. Among authors: hortnagel k. Front Neurol. 2023 Dec 6;14:1276238. doi: 10.3389/fneur.2023.1276238. eCollection 2023. Front Neurol. 2023. PMID: 38125836 Free PMC article.
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS. Moawia A, et al. Among authors: hortnagel k. Ann Neurol. 2017 Oct;82(4):562-577. doi: 10.1002/ana.25044. Epub 2017 Oct 14. Ann Neurol. 2017. PMID: 28892560
Prenatal sonographic diagnosis of skeletal dysplasias.
Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, Tutschek B. Schramm T, et al. Among authors: hortnagel k. Ultrasound Obstet Gynecol. 2009 Aug;34(2):160-70. doi: 10.1002/uog.6359. Ultrasound Obstet Gynecol. 2009. PMID: 19548204 Free article.
53 results