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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Ro… See abstract for full author list ➔ Crow YJ, et al. Among authors: lauffer h. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
de Vries B, Stam AH, Beker F, van den Maagdenberg AM, Vanmolkot KR, Laan L, Ginjaar IB, Frants RR, Lauffer H, Haan J, Haas JP, Terwindt GM, Ferrari MD. de Vries B, et al. Among authors: lauffer h. Cephalalgia. 2008 Aug;28(8):887-91. doi: 10.1111/j.1468-2982.2008.01596.x. Epub 2008 May 21. Cephalalgia. 2008. PMID: 18498393
Correction to: Long‑term quality of life after ETV or ETV with consecutive VP shunt placement in hydrocephalic pediatric patients.
Bogaczyk V, Fleck S, Berneiser J, Opolka M, Vollmer M, Baldauf J, Gasch CM, Lemke EM, Refaee EE, Matthes M, Hirschfeld H, Lauffer H, Gaab M, Schroeder HWS, Marx S. Bogaczyk V, et al. Among authors: lauffer h. Childs Nerv Syst. 2022 Oct;38(10):1895. doi: 10.1007/s00381-022-05657-7. Childs Nerv Syst. 2022. PMID: 36068357 Free PMC article. No abstract available.
Long-term quality of life after ETV or ETV with consecutive VP shunt placement in hydrocephalic pediatric patients.
Bogaczyk V, Fleck S, Berneiser J, Opolka M, Vollmer M, Baldauf J, Gasch CM, Lemke EM, El Refaee E, Matthes M, Hirschfeld H, Lauffer H, Gaab M, Schroeder H, Marx S. Bogaczyk V, et al. Among authors: lauffer h. Childs Nerv Syst. 2022 Oct;38(10):1885-1894. doi: 10.1007/s00381-022-05590-9. Epub 2022 Jul 6. Childs Nerv Syst. 2022. PMID: 35790573 Free PMC article.
Children with multiphasic disseminated encephalomyelitis and antibodies to the myelin oligodendrocyte glycoprotein (MOG): Extending the spectrum of MOG antibody positive diseases.
Baumann M, Hennes EM, Schanda K, Karenfort M, Kornek B, Seidl R, Diepold K, Lauffer H, Marquardt I, Strautmanis J, Syrbe S, Vieker S, Höftberger R, Reindl M, Rostásy K. Baumann M, et al. Among authors: lauffer h. Mult Scler. 2016 Dec;22(14):1821-1829. doi: 10.1177/1352458516631038. Epub 2016 Feb 11. Mult Scler. 2016. PMID: 26869530
26 results