Publikationsliste

Dr. med Sarah Bublitz (geb. Baumeister)

Schlaeger S, Weidlich D, Klupp E, Montagnese F, Deschauer M, Schoser B, Bublitz S, Ruschke R, Zimmer C, Rummeny EJ, Kirschke JS, Karampinos DC. Water T2 Mapping in Fatty Infiltrated Thigh Muscles of Patients With Neuromuscular Diseases Using a T2 -Prepared 3D Turbo Spin Echo With SPAIR. J Magn Reson Imaging. 2019;10.1002/jmri.27032. https://doi.org/10.1002/jmri.27032

 

Schlaeger S, Weidlich D, Klupp E, Montagnese F, Deschauer M, Schoser B, Bublitz S, Ruschke S, Zimmer C, Rummeny EJ, Kirschke JS, Karampinos DC. Decreased water T2 in fatty infiltrated skeletal muscles of patients with neuromuscular diseases. NMR Biomed. 2019 Jun 10:e4111. https://doi.org/10.1002/nbm.4111

 

Schlaeger S, Freitag F, Klupp E, Dieckmeyer M, Weidlich D, Inhuber S, Deschauer M, Schoser B, Bublitz S, Montagnese F, Zimmer C, Rummeny EJ, Karampinos DC, Kirschke JS, Baum T. Thigh muscle segmentation of chemical shift encoding-based water-fat magnetic resonance images: The reference database MyoSegmenTUM. PLoS One. 2018 Jun 7;13(6):e0198200. https://doi.org/10.1371/journal.pone.0198200

 

Bublitz SK, Alhaddad B, Synofzik M, Kuhn V, Lindner A, Freiberg C, Schmidt H, Strom TM, Haack T, Deschauer M. Expanding the endocrine phenotype of DNAJC3 mutations: Identification of a case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration. Clin Genet. 2017 Nov;92(5):561-562. https://doi.org/10.1111/cge.13069

 

Baumeister SK, Walter MC. Therapie hereditärer degenerativer Myopathien. Aktuelle Neurologie 2009;36:252-260. http://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0028-1090267

 

Baumeister S, Scholz C, TREAT-NMD – ein europäisches Netzwerk für neuromuskuläre Erkrankungen. Medizinische Genetik 2009 21:375-380

 

Brabec P, Vondrácek P, Klimes D, Baumeister S, Lochmüller H, Pavlík T, Gregor J. Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach. Neuromuscular Disorders 2009 Apr;19(4):250-254. https://doi.org/10.1016/j.nmd.2009.01.005

 

Baumeister SK, Todorovic S, Milić-Rasić V, Dekomien G, Lochmüller H, Walter MC. Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy. Neuromuscular Disorders 2009 Feb;19(2):167-171. https://doi.org/10.1016/j.nmd.2008.11.010

 

Müller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, Müller-Felber W, Abicht A, Lochmüller H. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. Neurology 2006 Oct 10;67(7):1159-1164. https://doi.org/10.1212/01.wnl.0000233837.79459.40

 

Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H, Abicht A. CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. Brain 2006 Oct;129(Pt 10):2784-2793. https://doi.org/10.1093/brain/awl188

 

Müller JS, Abicht A, Burke G, Cossins J, Richard P, Baumeister SK, Stucka R, Eymard B, Hantaï D, Beeson D, Lochmüller H. The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. Journal of Medical Genetics 2004 Aug;41(8):e104. https://jmg.bmj.com/content/41/8/e104

 

Müller JS, Petrova S, Kiefer R, Stucka R, König C, Baumeister SK, Huebner A, Lochmüller H, Abicht A. Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene. Neuropediatrics 2004 Jun;35(3):183-189. https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-2004-820996

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