My Bibliography

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Giese AK, Frahm J, Hübner R, Luo J, Wree A, Frech MJ, Rolfs A, Ortinau S. Erythropoietin and the effect of oxygen during proliferation and differentiation of human neural progenitor cells. BMC Cell Biol. 2010 Dec 2;11:94. doi: 10.1186/1471-2121-11-94. PubMed PMID: 21126346; PubMed Central PMCID: PMC3018408.

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Gephart MG, Taft BP, Giese AK, Guzman R, Edwards MS. Perioperative posterior reversible encephalopathy syndrome in 2 pediatric neurosurgery patients with brainstem ependymoma. J Neurosurg Pediatr. 2011 Mar;7(3):235-7. doi: 10.3171/2010.12.PEDS10299. PubMed PMID: 21361759.

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Szymańska K, Ługowska A, Laure-Kamionowska M, Bekiesińska-Figatowska M, Gieruszczak-Białek D, Musielak M, Eichler S, Giese AK, Rolfs A. Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature. Folia Neuropathol. 2012;50(4):346-56. doi: 10.5114/fn.2012.32364. Review. PubMed PMID: 23319190.

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Wittmann J, Karg E, Turi S, Legnini E, Wittmann G, Giese AK, Lukas J, Gölnitz U, Klingenhäger M, Bodamer O, Mühl A, Rolfs A. Newborn screening for lysosomal storage disorders in hungary. JIMD Rep. 2012;6:117-25. doi: 10.1007/8904_2012_130. Epub 2012 Mar 21. PubMed PMID: 23430949; PubMed Central PMCID: PMC3565645.

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Lukas J, Torras J, Navarro I, Giese AK, Böttcher T, Mascher H, Lackner KJ, Fauler G, Paschke E, Cruzado JM, Dudesek A, Wittstock M, Meyer W, Rolfs A. Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene. Clin Kidney J. 2012 Oct;5(5):395-400. doi: 10.1093/ckj/sfs115. PubMed PMID: 26019814; PubMed Central PMCID: PMC4432423.

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Niemann M, Rolfs A, Giese A, Mascher H, Breunig F, Ertl G, Wanner C, Weidemann F. Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease. JIMD Rep. 2013;7:99-102. doi: 10.1007/8904_2012_154. Epub 2012 Jul 1. PubMed PMID: 23430502; PubMed Central PMCID: PMC3573177.

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Rolfs A, Fazekas F, Grittner U, Dichgans M, Martus P, Holzhausen M, Böttcher T, Heuschmann PU, Tatlisumak T, Tanislav C, Jungehulsing GJ, Giese AK, Putaala J, Huber R, Bodechtel U, Lichy C, Enzinger C, Schmidt R, Hennerici MG, Kaps M, Kessler C, Lackner K, Paschke E, Meyer W, Mascher H, Riess O, Kolodny E, Norrving B. Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke. 2013 Feb;44(2):340-9. doi: 10.1161/STROKEAHA.112.663708. Epub 2013 Jan 10. PubMed PMID: 23306324.

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Lukas J, Giese AK, Markoff A, Grittner U, Kolodny E, Mascher H, Lackner KJ, Meyer W, Wree P, Saviouk V, Rolfs A. Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. PLoS Genet. 2013;9(8):e1003632. doi: 10.1371/journal.pgen.1003632. Epub 2013 Aug 1. PubMed PMID: 23935525; PubMed Central PMCID: PMC3731228.

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Böttcher T, Rolfs A, Tanislav C, Bitsch A, Köhler W, Gaedeke J, Giese AK, Kolodny EH, Duning T. Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?. PLoS One. 2013;8(8):e71894. doi: 10.1371/journal.pone.0071894. eCollection 2013. PubMed PMID: 24015197; PubMed Central PMCID: PMC3756019.

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Rolfs A, Giese AK, Grittner U, Mascher D, Elstein D, Zimran A, Böttcher T, Lukas J, Hübner R, Gölnitz U, Röhle A, Dudesek A, Meyer W, Wittstock M, Mascher H. Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients. PLoS One. 2013;8(11):e79732. doi: 10.1371/journal.pone.0079732. eCollection 2013. PubMed PMID: 24278166; PubMed Central PMCID: PMC3835853.

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Majersik JJ, Cole JW, Golledge J, Rost NS, Chan YF, Gurol ME, Lindgren AG, Woo D, Fernandez-Cadenas I, Chen DT, Thijs V, Worrall BB, Kamal A, Bentley P, Wardlaw JM, Ruigrok YM, Battey TW, Schmidt R, Montaner J, Giese AK, Roquer J, Jiménez-Conde J, Lee C, Ay H, Martin JJ, Rosand J, Maguire J. Recommendations from the international stroke genetics consortium, part 1: standardized phenotypic data collection. Stroke. 2015 Jan;46(1):279-84. doi: 10.1161/STROKEAHA.114.006839. Epub 2014 Dec 9. PubMed PMID: 25492903; PubMed Central PMCID: PMC4465378.

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Lukas J, Pockrandt AM, Seemann S, Sharif M, Runge F, Pohlers S, Zheng C, Gläser A, Beller M, Rolfs A, Giese AK. Enzyme enhancers for the treatment of Fabry and Pompe disease. Mol Ther. 2015 Mar;23(3):456-64. doi: 10.1038/mt.2014.224. Epub 2014 Nov 20. PubMed PMID: 25409744; PubMed Central PMCID: PMC4351457.

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Fazekas F, Enzinger C, Schmidt R, Grittner U, Giese AK, Hennerici MG, Huber R, Jungehulsing GJ, Kaps M, Kessler C, Martus P, Putaala J, Ropele S, Tanislav C, Tatlisumak T, Thijs V, von Sarnowski B, Norrving B, Rolfs A. Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event. Stroke. 2015 Jun;46(6):1548-53. doi: 10.1161/STROKEAHA.114.008548. Epub 2015 Apr 21. PubMed PMID: 25899239.

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Giese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, te Vruchte D, Al Eisa N, Cortina-Borja M, Porter FD, Platt FM, Rolfs A. A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease. Orphanet J Rare Dis. 2015 Jun 17;10:78. doi: 10.1186/s13023-015-0274-1. PubMed PMID: 26082315; PubMed Central PMCID: PMC4479076.

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Thijs V, Grittner U, Dichgans M, Enzinger C, Fazekas F, Giese AK, Kessler C, Kolodny E, Kropp P, Martus P, Norrving B, Ringelstein EB, Rothwell PM, Schmidt R, Tanislav C, Tatlisumak T, von Sarnowski B, Rolfs A. Family History in Young Patients With Stroke. Stroke. 2015 Jul;46(7):1975-8. doi: 10.1161/STROKEAHA.115.009341. Epub 2015 Jun 2. PubMed PMID: 26038521.

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Cozma C, Eichler S, Wittmann G, Flores Bonet A, Kramp GJ, Giese AK, Rolfs A. Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay. PLoS One. 2015;10(7):e0131228. doi: 10.1371/journal.pone.0131228. eCollection 2015. PubMed PMID: 26147980; PubMed Central PMCID: PMC4492791.

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Bluher A, Devan WJ, Holliday EG, Nalls M, Parolo S, Bione S, Giese AK, Boncoraglio GB, Maguire JM, Müller-Nurasyid M, Gieger C, Meschia JF, Rosand J, Rolfs A, Kittner SJ, Mitchell BD, O'Connell JR, Cheng YC. Heritability of young- and old-onset ischaemic stroke. Eur J Neurol. 2015 Nov;22(11):1488-91. doi: 10.1111/ene.12827. Epub 2015 Sep 2. PubMed PMID: 26333310; PubMed Central PMCID: PMC4600023.

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Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, Giese AK, Rolfs A. Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. Hum Mutat. 2016 Jan;37(1):43-51. doi: 10.1002/humu.22910. Epub 2015 Oct 27. PubMed PMID: 26415523.

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Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study. Lancet Neurol. 2016 Feb;15(2):174-184. doi: 10.1016/S1474-4422(15)00338-5. Epub 2015 Dec 19. PubMed PMID: 26708676; PubMed Central PMCID: PMC4912948.

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Cheng YC, Stanne TM, Giese AK, Ho WK, Traylor M, Amouyel P, Holliday EG, Malik R, Xu H, Kittner SJ, Cole JW, O'Connell JR, Danesh J, Rasheed A, Zhao W, Engelter S, Grond-Ginsbach C, Kamatani Y, Lathrop M, Leys D, Thijs V, Metso TM, Tatlisumak T, Pezzini A, Parati EA, Norrving B, Bevan S, Rothwell PM, Sudlow C, Slowik A, Lindgren A, Walters MR, Jannes J, Shen J, Crosslin D, Doheny K, Laurie CC, Kanse SM, Bis JC, Fornage M, Mosley TH, Hopewell JC, Strauch K, Müller-Nurasyid M, Gieger C, Waldenberger M, Peters A, Meisinger C, Ikram MA, Longstreth WT Jr, Meschia JF, Seshadri S, Sharma P, Worrall B, Jern C, Levi C, Dichgans M, Boncoraglio GB, Markus HS, Debette S, Rolfs A, Saleheen D, Mitchell BD. Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2. Stroke. 2016 Feb;47(2):307-16. doi: 10.1161/STROKEAHA.115.011328. Epub 2016 Jan 5. PubMed PMID: 26732560; PubMed Central PMCID: PMC4729659.

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Charidimou A, Morotti A, Valenti R, Giese AK, Boulouis G, Pasi M, Roongpiboonsopit D, Lauer A, Xiong L, Van Harten TW, Karadeli H, Fotiadis P, Jessel MJ, Viswanathan A. Journal Club: Time trends in incidence, case fatality, and mortality of intracerebral hemorrhage. Neurology. 2016 May 17;86(20):e206-9. doi: 10.1212/WNL.0000000000002678. PubMed PMID: 27185900; PubMed Central PMCID: PMC4873687.

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Tanislav C, Guenduez D, Liebetrau C, Giese AK, Eichler S, Sieweke N, Speth M, Bauer T, Hamm C, Rolfs A. Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease. PLoS One. 2016;11(6):e0157640. doi: 10.1371/journal.pone.0157640. eCollection 2016. PubMed PMID: 27322070; PubMed Central PMCID: PMC4913911.

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Lenders M, Hennermann JB, Kurschat C, Rolfs A, Canaan-Kühl S, Sommer C, Üçeyler N, Kampmann C, Karabul N, Giese AK, Duning T, Stypmann J, Krämer J, Weidemann F, Brand SM, Wanner C, Brand E. Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease. Orphanet J Rare Dis. 2016 Jun 29;11(1):88. doi: 10.1186/s13023-016-0473-4. PubMed PMID: 27356758; PubMed Central PMCID: PMC4928260.

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Tanislav C, Grittner U, Fazekas F, Thijs V, Tatlisumak T, Huber R, von Sarnowski B, Putaala J, Schmidt R, Kropp P, Norrving B, Martus P, Gramsch C, Giese AK, Rolfs A, Enzinger C. Frequency and predictors of acute ischaemic lesions on brain magnetic resonance imaging in young patients with a clinical diagnosis of transient ischaemic attack. Eur J Neurol. 2016 Jul;23(7):1174-82. doi: 10.1111/ene.13012. Epub 2016 Apr 23. PubMed PMID: 27105904.

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Vargiami E, Papathanasiou E, Batzios S, Kyriazi M, Dimitriou E, Anastasiou A, Michelakakis H, Giese AK, Zafeiriou DI. Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports. Balkan J Med Genet. 2016 Jul 1;19(1):85-90. doi: 10.1515/bjmg-2016-0011. eCollection 2016 Jul 1. PubMed PMID: 27785412; PubMed Central PMCID: PMC5026284.

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Etherton MR, Wu O, Cougo P, Giese AK, Cloonan L, Fitzpatrick KM, Kanakis AS, Boulouis G, Karadeli HH, Lauer A, Rosand J, Furie KL, Rost NS. Integrity of normal-appearing white matter and functional outcomes after acute ischemic stroke. Neurology. 2017 May 2;88(18):1701-1708. doi: 10.1212/WNL.0000000000003890. Epub 2017 Apr 5. PubMed PMID: 28381507; PubMed Central PMCID: PMC5409847.

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Cozma C, Iurașcu MI, Eichler S, Hovakimyan M, Brandau O, Zielke S, Böttcher T, Giese AK, Lukas J, Rolfs A. C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease. Sci Rep. 2017 Jul 21;7(1):6149. doi: 10.1038/s41598-017-06604-2. PubMed PMID: 28733637; PubMed Central PMCID: PMC5522391.

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Thijs V, Grittner U, Fazekas F, McCabe DJH, Giese AK, Kessler C, Martus P, Norrving B, Ringelstein EB, Schmidt R, Tanislav C, Putaala J, Tatlisumak T, von Sarnowski B, Rolfs A, Enzinger C. Dolichoectasia and Small Vessel Disease in Young Patients With Transient Ischemic Attack and Stroke. Stroke. 2017 Sep;48(9):2361-2367. doi: 10.1161/STROKEAHA.117.017406. Epub 2017 Jul 28. PubMed PMID: 28754833.

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Atchaneeyasakul K, Leslie-Mazwi T, Donahue K, Giese AK, Rost NS. White Matter Hyperintensity Volume and Outcome of Mechanical Thrombectomy With Stentriever in Acute Ischemic Stroke. Stroke. 2017 Oct;48(10):2892-2894. doi: 10.1161/STROKEAHA.117.018653. Epub 2017 Sep 8. PubMed PMID: 28887393; PubMed Central PMCID: PMC5659291.

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Giese AK, Schirmer MD, Donahue KL, Cloonan L, Irie R, Winzeck S, Bouts MJRJ, McIntosh EC, Mocking SJ, Dalca AV, Sridharan R, Xu H, Frid P, Giralt-Steinhauer E, Holmegaard L, Roquer J, Wasselius J, Cole JW, McArdle PF, Broderick JP, Jimenez-Conde J, Jern C, Kissela BM, Kleindorfer DO, Lemmens R, Lindgren A, Meschia JF, Rundek T, Sacco RL, Schmidt R, Sharma P, Slowik A, Thijs V, Woo D, Worrall BB, Kittner SJ, Mitchell BD, Rosand J, Golland P, Wu O, Rost NS. Design and rationale for examining neuroimaging genetics in ischemic stroke: The MRI-GENIE study. Neurol Genet. 2017 Oct;3(5):e180. doi: 10.1212/NXG.0000000000000180. eCollection 2017 Oct. PubMed PMID: 28852707; PubMed Central PMCID: PMC5570675.