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Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J. Hehr U, et al. Among authors: schuierer g. Ann Neurol. 2007 Dec;62(6):656-65. doi: 10.1002/ana.21310. Ann Neurol. 2007. PMID: 18067136
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J. Hehr U, et al. Among authors: schuierer g. Neurogenetics. 2007 Nov;8(4):279-88. doi: 10.1007/s10048-007-0096-y. Epub 2007 Sep 29. Neurogenetics. 2007. PMID: 17906881
GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model.
Mishra HK, Prots I, Havlicek S, Kohl Z, Perez-Branguli F, Boerstler T, Anneser L, Minakaki G, Wend H, Hampl M, Leone M, Brückner M, Klucken J, Reis A, Boyer L, Schuierer G, Behrens J, Lampert A, Engel FB, Gage FH, Winkler J, Winner B. Mishra HK, et al. Among authors: schuierer g. Ann Neurol. 2016 May;79(5):826-840. doi: 10.1002/ana.24633. Ann Neurol. 2016. PMID: 26971897 Free PMC article.
47 patients with FLNA associated periventricular nodular heterotopia.
Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, Behnecke A, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Graul-Neumann L, Diepold K, Schreyer I, Bernhard MK, Mueller F, Siebers-Renelt U, Beleza-Meireles A, Uyanik G, Janssens S, Boltshauser E, Winkler J, Schuierer G, Hehr U. Lange M, et al. Among authors: schuierer g. Orphanet J Rare Dis. 2015 Oct 15;10:134. doi: 10.1186/s13023-015-0331-9. Orphanet J Rare Dis. 2015. PMID: 26471271 Free PMC article.
Modeling and Bioinformatics Identify Responders to G-CSF in Patients With Amyotrophic Lateral Sclerosis.
Johannesen S, Huie JR, Budeus B, Peters S, Wirth AM, Iberl S, Kammermaier T, Kobor I, Wirkert E, Küspert S, Tahedl M, Grassinger J, Pukrop T, Schneider A, Aigner L, Schulte-Mattler W, Schuierer G, Koch W, Bruun TH, Ferguson AR, Bogdahn U. Johannesen S, et al. Among authors: schuierer g. Front Neurol. 2021 Mar 18;12:616289. doi: 10.3389/fneur.2021.616289. eCollection 2021. Front Neurol. 2021. PMID: 33815246 Free PMC article.
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H. Geis T, et al. Among authors: schuierer g. Orphanet J Rare Dis. 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0. Orphanet J Rare Dis. 2019. PMID: 31311558 Free PMC article.
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs.
Herbst SM, Proepper CR, Geis T, Borggraefe I, Hahn A, Debus O, Haeussler M, von Gersdorff G, Kurlemann G, Ensslen M, Beaud N, Budde J, Gilbert M, Heiming R, Morgner R, Philippi H, Ross S, Strobl-Wildemann G, Muelleder K, Vosschulte P, Morris-Rosendahl DJ, Schuierer G, Hehr U. Herbst SM, et al. Among authors: schuierer g. Brain Dev. 2016 Apr;38(4):399-406. doi: 10.1016/j.braindev.2015.10.001. Epub 2015 Oct 19. Brain Dev. 2016. PMID: 26494205
Fulminant Acute Ascending Hemorrhagic Myelitis Treated with Eculizumab.
Hsam NBO, Angstwurm K, Peters S, Fuchs K, Schuierer G, Bogdahn U, Weissert R. Hsam NBO, et al. Among authors: schuierer g. Front Neurol. 2017 Jul 27;8:345. doi: 10.3389/fneur.2017.00345. eCollection 2017. Front Neurol. 2017. PMID: 28798719 Free PMC article.
183 results