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Page 1
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Giorgio E, et al. Among authors: pjontek r. Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23649844 Free PMC article.
Genetic Imbalance in Patients with Cervical Artery Dissection.
Grond-Ginsbach C, Chen B, Krawczak M, Pjontek R, Ginsbach P, Jiang Y, Abboud S, Arnold ML, Bersano A, Brandt T, Caso V, Debette S, Dichgans M, Geschwendtner A, Giacalone G, Martin JJ, Metso AJ, Metso TM, Grau AJ, Kloss M, Lichy C, Pezzini A, Traenka C, Schreiber S, Thijs V, Touzé E, Del Zotto E, Tatlisumak T, Leys D, Lyrer PA, Engelter ST; CADISP group.. Grond-Ginsbach C, et al. Among authors: pjontek r. Curr Genomics. 2017 Apr;18(2):206-213. doi: 10.2174/1389202917666160805152627. Curr Genomics. 2017. PMID: 28367076 Free PMC article.
Copy number variation in patients with cervical artery dissection.
Grond-Ginsbach C, Chen B, Pjontek R, Wiest T, Jiang Y, Burwinkel B, Tchatchou S, Krawczak M, Schreiber S, Brandt T, Kloss M, Arnold ML, Hemminki K, Lichy C, Lyrer PA, Hausser I, Engelter ST. Grond-Ginsbach C, et al. Among authors: pjontek r. Eur J Hum Genet. 2012 Dec;20(12):1295-9. doi: 10.1038/ejhg.2012.82. Epub 2012 May 23. Eur J Hum Genet. 2012. PMID: 22617347 Free PMC article.
Spontaneous arterial dissection: phenotype and molecular pathogenesis.
Grond-Ginsbach C, Pjontek R, Aksay SS, Hyhlik-Dürr A, Böckler D, Gross-Weissmann ML. Grond-Ginsbach C, et al. Among authors: pjontek r. Cell Mol Life Sci. 2010 Jun;67(11):1799-815. doi: 10.1007/s00018-010-0276-z. Epub 2010 Feb 14. Cell Mol Life Sci. 2010. PMID: 20155481 Free PMC article. Review.
MINARO DRS: usability study of a robotic-assisted laminectomy.
Vossel M, Theisgen L, Wickel N, Phlippen L, Pjontek R, Drobinsky S, Clusmann H, Radermacher K, Blume C, de la Fuente M. Vossel M, et al. Among authors: pjontek r. Int J Comput Assist Radiol Surg. 2025 Feb;20(2):357-367. doi: 10.1007/s11548-024-03285-x. Epub 2024 Nov 9. Int J Comput Assist Radiol Surg. 2025. PMID: 39520631 Free PMC article.
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