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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 Review.
Diagnostic Performance of Whole-Body Ultra-Low-Dose CT for Detection of Mechanical Ventriculoperitoneal Shunt Complications: A Retrospective Analysis.
Afat S, Pjontek R, Nikoubashman O, Kunz WG, Brockmann MA, Ridwan H, Wiesmann M, Clusmann H, Othman AE, Hamou HA. Afat S, et al. Among authors: pjontek r. AJNR Am J Neuroradiol. 2022 Nov;43(11):1597-1602. doi: 10.3174/ajnr.A7672. Epub 2022 Oct 13. AJNR Am J Neuroradiol. 2022. PMID: 36229165 Free PMC article.
MRI appearance of chronic subdural hematoma.
Hasan D, Nikoubashman O, Pjontek R, Stockero A, Hamou HA, Wiesmann M. Hasan D, et al. Among authors: pjontek r. Front Neurol. 2022 Aug 8;13:872664. doi: 10.3389/fneur.2022.872664. eCollection 2022. Front Neurol. 2022. PMID: 36003292 Free PMC article.
Progressive multifocal leukoencephalopathy and immune reconstitution inflammatory syndrome in seven patients with sarcoidosis: a critical discussion of treatment and prognosis.
Dohrn MF, Ellrichmann G, Pjontek R, Lukas C, Panse J, Gold R, Schulz JB, Gess B, Tauber SC. Dohrn MF, et al. Among authors: pjontek r. Ther Adv Neurol Disord. 2021 Jul 31;14:17562864211035543. doi: 10.1177/17562864211035543. eCollection 2021. Ther Adv Neurol Disord. 2021. PMID: 34377151 Free PMC article.
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