Publikationen

Publikationen des ZESE und seiner Fachzentren 2019

Christiane Herzog-Zentrum für Mukoviszidose Unterfranken

Hebestreit H, Hulzebos EH, Schneiderman JE, Karila C, Boas SR, Kriemler S, Dwyer T, Sahlberg M, Urquhart DS, Lands LC, Ratjen F, Takken T, Varanistkaya L, Rücker V, Hebestreit A, Usemann J, Radtke T (2019) Prognostic value of CPET in CF study group. Cardiopulmonary exercise testing provides additional prognostic information in cystic fibrosis. Am J Respir Crit Care Med. 2019;199(8):987-995.

Kampouras A, Hatziagorou E, Avramidou V, Georgopoulou V, Kirvassilis F, Hebestreit H, Tsanakas J. Ventilation efficiency to exercise in patients with cystic fibrosis (2019) Pediatr Pulmonol. 2019 Jul 5. doi: 10.1002/ppul.24438. [Epub ahead of print]

Lodes N, Seidensticker K, Perniss A, Nietzer S, Oberwinkler H, May T, Walles T, Hebestreit H, Hackenberg S, Steinke M (2019) Investigation on Ciliary Functionality of Different Airway Epithelial Cell Lines in Three-Dimensional Cell Culture. Tissue Eng Part A. 2019 Dec 27.

Radtke T, Crook S, Kaltsakas G, Louvaris Z, Berton D, Urquhart DS, Kampouras A, Rabinovich RA, Verges S, Kontopidis D, Boyd J, Tonia T, Langer D, De Brandt J, Goërtz YMJ, Burtin C, Spruit MA, Braeken DCW, Dacha S, Franssen FME, Laveneziana P, Eber E, Troosters T, Neder JA, Puhan MA, Casaburi R, Vogiatzis I, Hebestreit H (2019) ERS statement on standardisation of cardiopulmonary exercise testing in chronic lung diseases. Eur Respir Rev. 2019 Dec 18;28(154).

Radtke T, Vogiatzis I, Urquhart DS, Laveneziana P, Casaburi R, Hebestreit H (2019) European Respiratory Society Task Force on Standardisation of Cardiopulmonary Exercise Testing in Chronic Lung Diseases. Standardisation of cardiopulmonary exercise testing in chronic lung diseases: summary of key findings from the ERS task force. Eur Respir J. 2019 Dec 19;54(6).

Ruf K, Beer M, Köstler H, Weng AM, Neubauer H, Klein A, Platek K, Roth K, Beneke R, Hebestreit H (2019) Size-adjusted muscle power and muscle metabolism in patients with cystic fibrosis are equal to healthy controls - a case control study. BMC Pulm Med. 2019 Dec 30;19(1):269.

Fabry-Zentrum Würzburg: FAZiT

Cairns T, Wanner C (2019) Will the FAbry STabilization indEX make its way to everyday clinical practice? Clin Kidney J. 2019;12:61-64.

Elliott PM, Germain DP, Hilz MJ, Spada M, Wanner C, Falissard B (2019) Why systematic literature reviews in Fabry disease should include all published evidence. Eur J Med Genet. 2019;62:103702.

Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, Hilz MJ, Hughes DA, Ortiz A, Wanner C, Weidemann F, Spada M (2019) The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts. Mol Genet Metab. 2019;126:224-235.

Germain DP, Elliott PM, Falissard B, Fomin VV, Hilz MJ, Jovanovic A, Kantola I, Linhart A, Mignani R, Namdar M, Nowak A, Oliveira JP, Pieroni M, Viana-Baptista M, Wanner C, Spada M (2019) The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts. Mol Genet Metab Rep. 2019;19:100454. doi: 10.1016/j.ymgmr.2019.100454.

Müntze J, Gensler D, Maniuc O, Liu D, Cairns T, Oder D, Hu K, Lorenz K, Frantz S, Wanner C, Nordbeck P (2019) Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year. Clin Pharmacol Ther. 2019;105:1224-1233.

Müntze J, Nordbeck P (2019) Response to "Oral Chaperone Therapy Migalastat for the Treatment of Fabry Disease: Potentials and Pitfalls of Real-World Data". Clin Pharmacol Ther. 2019 Nov;106(5):927-928. doi: 10.1002/cpt.1533. Epub 2019 Jul 12.

Siedler G, Káhn AK, Weidemann F, Wanner C, Sommer C, Üçeyler N (2019) Dyshidrosis is associated with reduced amplitudes in electrically evoked pain-related potentials in women with Fabry disease. Clin Neurophysiol. 2019;130:528-536.

Spada M, Baron R, Elliott PM, Falissard B, Hilz MJ, Monserrat L, Tøndel C, Tylki- Szymańska A, Wanner C, Germain DP (2019) The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts. Mol Genet Metab. 2019;126:212-223.

Üçeyler N, Urlaub D, Mayer C, Uehlein S, Held M, Sommer C (2019) Tumor necrosis factor- α links heat and inflammation with Fabry pain. Mol Genet Metab. 2019 Jul;127(3):200- 206.

Wanner C, Germain DP, Hilz MJ, Spada M, Falissard B, Elliott PM (2019) Therapeutic goals in Fabry disease: Recommendations of a European expert panel, based on current clinical evidence with enzyme replacement therapy. Mol Genet Metab. 2019;126:210- 211.

Xiao K, Lu D, Hoepfner J, Santer L, Gupta S, Pfanne A, Thum S, Lenders M, Brand E, Nordbeck P, Thum T (2019) Circulating microRNAs in Fabry Disease. Sci Rep. 2019;9:15277. doi: 10.1038/s41598-019-51805-6.

Interdisziplinäres Amyloidosezentrum Nordbayern

Ihne S, Morbach C, Obici L, Palladini G, Stork S (2019) Amyloidosis in Heart Failure. Curr Heart Fail Rep. 2019.

Kircher M, Ihne S, Brumberg J, Morbach C, Knop S, Kortum KM, Störk S, Buck AK, Reiter T, Bauer WR, Lapa C (2019) Detection of cardiac amyloidosis with (18)F-Florbetaben- PET/CT in comparison to echocardiography, cardiac MRI and DPD-scintigraphy. Eur J Nucl Med Mol Imaging. 2019;46(7):1407-16.

Yilmaz A, Bauersachs J, Kindermann I, Klingel K, Knebel F, Meder B, Morbach C, Nagel E, Schulze-Bahr E, aus dem Siepen F & Frey N (2019) Diagnostik und Therapie der kardialenAmyloidose. 2019; Kardiologe 13, 264-291.

Sarkoidose-Zentrum

Dierks A, Kircher M, Schmid SJ, Kramer D, Buck AK, Lapa C (2019) Tiger man sign in sarcoid myopathy. Eur J Nucl Med Mol Imaging. 2019;46:1039-1040.

Würzburger Zentrum für Neurofibromatosen (WZNF)

Breun M, Nickl R, Perez J, Hagen R, Löhr M, Vince G, Trautner H, Ernestus RI, Matthies C (2019) Vestibular Schwannoma Resection in a Consecutive Series of 502 Cases via the Retrosigmoid Approach: Technical Aspects, Complications, and Functional Outcome. World Neurosurg. 2019;129:e114-e127.

Zentrum für Achalasie und andere Ösophagusmotilitätsstörungen

Werner YB, Hakanson B, Martinek J, Repici A, von Rahden BHA, Bredenoord AJ, Bisschops R, Messmann H, Vollberg MC, Noder T, Kersten JF, Mann O, Izbicki J, Pazdro A, Fumagalli U, Rosati R, Germer CT, Schijven MP, Emmermann A, von Renteln D, Fockens P, Boeckxstaens G, Rösch T (2019) Endoscopic or Surgical Myotomy in Patients with Idiopathic Achalasia. N Engl J Med. 2019 Dec 5; 381(23):2219-2229. doi: 10.1056/NEJMoa1905380.

Zentrum für angeborene Blutzellerkrankungen

Andres O, Loewecke F, Morbach H, Kraus S, Einsele H, Eber S, Speer CP (2019) Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane. Br J Haematol. 2019;187:386-395.

Geue S, Aurbach K, Manke MC, Manukjan G, Münzer P, Stegner D, Brähler C, Walker- Allgaier B, Märklin M, Borst CE, Quintanilla-Fend L, Rath D, Geisler T, Salih HR, Seizer P, Lang F, Nieswandt B, Gawaz M, Schulze H, Pleines I, Borst O (2019) Pivotal role of PDK1 in megakaryocyte cytoskeletal dynamics and polarization during platelet biogenesis. Blood 2019;134:1847-1858.

Kiran Gotru S, van Geffen JP, Nagy M, Mammadova-Bach E, Eilenberger J, Volz J, Manukjan G, Schulze H, Wagner L, Eber S, Schambeck C, Deppermann C, Brouns S, Nurden P, Greinacher A, Sachs U, Nieswandt B, Hermanns HM, Heemskerk JWM, Braun A (2019) Defective Zn2+ homeostasis in mouse and human platelets with α- and δ- storage pool diseases. Sci Rep. 2019;9:8333.

Manukjan G, Eilenberger J, Andres O, Schambeck C, Eber S, Schulze H (2019) Functional Classification of Paediatric Patients with Non-syndromic Delta-Storage Pool Deficiency. Hamostaseologie. 2019;39:383-391.

Schuhmann MK, Kraft P, Bieber M, Kollikowski AM, Schulze H, Nieswandt B, Pham M, Stegner D, Stoll G (2019) Targeting Platelet GPVI Plus rt-PA Administration but Not α2β1- Mediated Collagen Binding Protects against Ischemic Brain Damage in Mice. Int J Mol Sci. 2019;20:2019.

Semeniak D, Faber K, Öftering P, Manukjan G, Schulze H (2019) Impact of Itga2-Gp6-double collagen receptor deficient mice for bone marrow megakaryocytes and platelets. PLoS One. 2019;14:e0216839.

Vögtle T, Sharma S, Mori J, Nagy Z, Semeniak D, Scandola C, Geer MJ, Smith CW, Lane J, Pollack S, Lassila R, Jouppila A, Barr AJ, Ogg DJ, Howard TD, McMiken HJ, Warwicker J, Geh C, Rowlinson R, Abbott WM, Eckly A, Schulze H, Wright GJ, Mazharian A, Fütterer K, Rajesh S, Douglas MR, Senis YA (2019) Heparan sulfates are critical regulators of the inhibitory megakaryocyte-platelet receptor G6b-B. Elife. 2019;8:e46840.

Zentrum für blasenbildende Autoimmundermatosen

Grän F, Goebeler M, Gesierich A. Eur J Dermatol (2019) Bullous pemphigoid developing upon immune checkpoint inhibition with nivolumab. 2019 Aug 1;29(4):448-449. doi: 10.1684/ejd.2019.3614.

Russlies J, Fähnrich A, Witte M, Yin J, Benoit S, Gläser R, Günter C, Eming R, Erdmann J, Gola D, Gupta Y, Holtsche MM, Kern JS, König IR, Kiritsi D, Lieb W, Sadik CD, Sárdy M, Schauer F, van Beek N, Weidinger A, Worm M, Zillikens D, Schmidt E, Busch H, Ibrahim SM, Hirose M (2019) Polymorphisms in the Mitochondrial Genome Are Associated With Bullous Pemphigoid in Germans. Front Immunol. 2019 Nov 22; 10:2200. doi: 10.3389/fimmu.2019.02200.

Zentrum für Genetische Herz- und Gefäßerkrankung

Abdelfatah N, Chen R, Duff HJ, Seifer CM, Buffo I, Huculak C, Clarke S, Clegg R, Jassal DS, Gordon PMK, Ober C, Frosk P and Gerull B. (2019) Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2. JACC: Basic to Translational Science. 2019;4:204-221.

Brodehl A, Rezazadeh S, Williams T, Munsie NM, Liedtke D, Oh T, Ferrier R, Shen Y, Jones SJM, Stiegler AL, Boggon TJ, Duff HJ, Friedman JM, Gibson WT; FORGE Canada Consortium, Childs SJ, Gerull B. (2019) Mutations in ILK, encoding integrin- linked kinase, are associated with arrhythmogenic cardiomyopathy. Transl Res. 2019 Jun;208:15-29. pii: S1931-5244(19)30036.

Brodehl A, Pour Hakimi SA, Stanasiuk C, Ratnavadivel S, Hendig D, Gaertner A, Gerull B, Gummert J, Paluszkiewicz L, Milting H. (2019) Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect. Genes (Basel). 2019 Nov 11;10(11).

Kolokotronis K, Kühnisch J, Klopocki E, Dartsch J, Rost S, Huculak C, Mearini G, Störk S, Carrier L, Klaassen S, Gerull B. (2019) Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular non-compaction phenotype. Hum Mutat. 2019 Aug;40(8):1101-1114. doi: 10.1002/humu.23757.

Kühnisch J, Herbst C, Al-Wakeel-Marquard N, Dartsch J, Holtgrewe M, Baban A, Mearini G, Hardt J, Kolokotronis K, Gerull B, Carrier L, Beule D, Schubert S, Messroghli D, Degener F, Berger F, Klaassen S. (2019) Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. Clin Genet. 2019 Dec;96(6):549-559. doi: 10.1111/cge.13645. Epub 2019 Oct 22.

Sacchetto C, Sequeira V, Bertero E, Dudek J, Maack C, Calore M. J Clin Med (2019)  Metabolic Alterations in Inherited Cardiomyopathies. 2019 Dec 12;8(12):2195. doi: 10.3390/jcm8122195. PMID: 31842377

Sequeira V, Bertero E and Maack C. (2019) Energetic drain driving hypertrophic cardiomyopathy. FEBS Lett. 2019;593:1616-1626.

Zentrum für das Multiples Myelom

Barrio S, Munawar U, Zhu YX, Giesen N, Shi CX, Da Via M, Sanchez R, Bruins L, Demler T, Muller N, Haertle L, Garitano A, Steinbrunn T, Danhof S, Cuenca I, Barrio- Garcia C, Braggio E, Rosenwald A, Martinez-Lopez J, Rasche L, Raab MS, Stewart AK, Einsele H, Stuhmer T, Kortum KM (2019) IKZF1/3 and CRL4-CRBN E3 ubiquitin ligase mutations and IMiD resistance in multiple myeloma. Haematologica. 2019.

Barrio S, Stuhmer T, Da-Via M, Barrio-Garcia C, Lehners N, Besse A, Cuenca I, Garitano-Trojaola A, Fink S, Leich E, Chatterjee M, Driessen C, Martinez-Lopez J, Rosenwald A, Beckmann R, Bargou RC, Braggio E, Stewart AK, Raab MS, Einsele H,Kortum KM (2019) Spectrum and functional validation of PSMB5 mutations in multiple myeloma. Leukemia. 2019;33(2):447-456.

Bringhen S, Milan A, D'Agostino M, Ferri C, Wasch R, Gay F, Larocca A, Offidani M, Zweegman S, Terpos E, Goldschmidt H, Cavo M, Ludwig H, Driessen C, Auner HW, Caers J, Gramatzki M, Dimopoulos MA, Boccadoro M, Einsele H, Sonneveld P, Engelhardt M (2019) Prevention, monitoring and treatment of cardiovascular adverse events in myeloma patients receiving carfilzomib A consensus paper by the European Myeloma Network and the Italian Society of Arterial Hypertension. J Intern Med. 2019;286(1):63-74.

Da Via MC, Solimando AG, Garitano-Trojaola A, Barrio S, Munawar U, Strifler S, Haertle L, Rhodes N, Teufel E, Vogt C, Lapa C, Beilhack A, Rasche L, Einsele H, Kortum KM (2019) CIC Mutation as a Molecular Mechanism of Acquired Resistance to Combined BRAF-MEK Inhibition in Extramedullary Multiple Myeloma with Central Nervous System Involvement. Oncologist. 2019.

Danhof S, Strifler S, Hose D, Kortum M, Bittrich M, Hefner J, Einsele H, Knop S, Schreder M (2019) Clinical and biological characteristics of myeloma patients influence response to elotuzumab combination therapy. J Cancer Res Clin Oncol. 2019;145(3):561-571.

Einsele H, Rasche L, Topp MS, Martin Kortum K, Duell J (2019) The use of bispecific antibodies to optimize the outcome of patients with acute leukemia, lymphoma and multiple myeloma after SCT. Bone Marrow Transplant. 2019;54(Suppl 2):721-726.

Greil C, Engelhardt M, Ihorst G, Schoeller K, Bertz H, Marks R, Zeiser R, Duyster J, Einsele H, Finke J, Wasch R (2019) Allogeneic transplantation of multiple myeloma patients may allow long-term survival in carefully selected patients with acceptable toxicity and preserved quality of life. Haematologica. 2019;104(2):370-379.

Hillengass J, Usmani S, Rajkumar SV, Durie BGM, Mateos MV, Lonial S, Joao C, Anderson KC, Garcia-Sanz R, Riva E, Du J, van de Donk N, Berdeja JG, Terpos E, Zamagni E, Kyle RA, San Miguel J, Goldschmidt H, Giralt S, Kumar S, Raje N, Ludwig H, Ocio E, Schots R, Einsele H, Schjesvold F, Chen WM, Abildgaard N, Lipe BC, Dytfeld D, Wirk BM, Drake M, Cavo M, Lahuerta JJ, Lentzsch S (2019) International myeloma working group consensus recommendations on imaging in monoclonal plasma cell disorders. Lancet Oncol. 2019;20(6):e302-e312.

Kircher S, Stolzenburg A, Kortum KM, Kircher M, Da Via M, Samnick S, Buck AK, Einsele H, Rosenwald A, Lapa C (2019) Hexokinase-2 Expression in (11)C-Methionine- Positive, (18)F-FDG-Negative Multiple Myeloma. J Nucl Med. 2019;60(3):348-352.

Knop S, Engelhardt M, Liebisch P, Meisner C, Holler E, Metzner B, Peest D, Kaufmann M, Bunjes D, Straka C, Fischer T, Sezer O, Hentrich M, Ostermann H, Bassermann F, Hess G, Hertenstein B, Freund M, Kropff M, Schmidt CA, Wolf HH, Jung W, Frickhofen N, Mielke S, Bargou RC, Maschmeyer G, Svaldi M, Langer CH, Gramatzki M, Hebart H, Kanz L, Einsele H (2019) Deutsche Studiengruppe Multiples M. Allogeneic transplantation in multiple myeloma: long-term follow-up and cytogenetic subgroup analysis. Leukemia. 2019;33(11):2710-2719.

Kortum KM, Einsele H (2019) Diagnostic and therapeutic considerations on recurrence of multiple myeloma : A current overview. Internist (Berl). 2019;60(1):34-41.

Lapa C, Kircher M, Da Via M, Schreder M, Rasche L, Kortum KM, Einsele H, Buck AK, Hanscheid H, Samnick S (2019) Comparison of 11C-Choline and 11C-Methionine PET/CT in Multiple Myeloma. Clin Nucl Med. 2019;44(8):620-624.

Lapa C, Kircher M, Da Via M, Schreder M, Rasche L, Kortum KM, Einsele H, Buck AK, Hanscheid H, Samnick S (2019) Comparison of 11C-Choline and 11C-Methionine PET/CT in Multiple Myeloma. Clin Nucl Med. 2019.

Lapa C, Hanscheid H, Kircher M, Schirbel A, Wunderlich G, Werner RA, Samnick S, Kotzerke J, Einsele H, Buck AK, Wester HJ, Grigoleit GU (2019) Feasibility of CXCR4- Directed Radioligand Therapy in Advanced Diffuse Large B-Cell Lymphoma. J Nucl Med. 2019;60(1):60-64.

Lapa C, Luckerath K, Kircher S, Hanscheid H, Grigoleit GU, Rosenwald A, Stolzenburg A, Kropf S, Einsele H, Wester HJ, Buck AK, Kortum KM, Schirbel A (2019) Potential influence of concomitant chemotherapy on CXCR4 expression in receptor directed endoradiotherapy. Br J Haematol. 2019;184(3):440-443.

Leleu X, Martin TG, Einsele H, Lyons RM, Durie BGM, Iskander KS, Ailawadhi S (2019) Role of Proteasome Inhibitors in Relapsed and/or Refractory Multiple Myeloma. Clin Lymphoma Myeloma Leuk. 2019;19(1):9-22.

Loda S, Krebs J, Danhof S, Schreder M, Solimando AG, Strifler S, Rasche L, Kortum M, Kerscher A, Knop S, Puppe F, Einsele H, Bittrich M (2019) Exploration of Artificial Intelligence Use with ARIES in Multiple Myeloma Research. J Clin Med. 2019;8(7).

Ludwig H, Poenisch W, Knop S, Egle A, Schreder M, Lechner D, Hajek R, Gunsilius E, Krenosz KJ, Petzer A, Weisel K, Niederwieser D, Einsele H, Willenbacher W, Melchardt T, Greil R, Zojer N (2019) Ixazomib-Thalidomide-Dexamethasone for induction therapy followed by Ixazomib maintenance treatment in patients with relapsed/refractory multiple myeloma. Br J Cancer. 2019;121(9):751-757.

Maurer S, Herhaus P, Lippenmeyer R, Hanscheid H, Kircher M, Schirbel A, Maurer HC, Buck AK, Wester HJ, Einsele H, Grigoleit GU, Keller U, Lapa C (2019) Side Effects of CXC- Chemokine Receptor 4-Directed Endoradiotherapy with Pentixather Before Hematopoietic Stem Cell Transplantation. J Nucl Med. 2019;60(10):1399-1405.

Moreau P, Sonneveld P, Boccadoro M, Cook G, Mateos MV, Nahi H, Goldschmidt H, Dimopoulos MA, Lucio P, Blade J, Delforge M, Hajek R, Ludwig H, Facon T, Miguel JFS, Einsele H (2019) Chimeric antigen receptor T-cell therapy for multiple myeloma: a consensus statement from The European Myeloma Network. Haematologica. 2019;104(12):2358-2360.

Munawar U, Rasche L, Muller N, Vogt C, Da-Via M, Haertle L, Arampatzi P, Dietrich S, Roth M, Garitano-Trojaola A, Steinhardt MJ, Strifler S, Gallardo M, Martinez-Lopez J, Bargou RC, Heckel T, Einsele H, Stuhmer T, Kortum KM, Barrio S (2019) Hierarchy of mono- and biallelic TP53 alterations in multiple myeloma cell fitness. Blood. 2019;134(10):836-840.

Nerreter T, Letschert S, Gotz R, Doose S, Danhof S, Einsele H, Sauer M, Hudecek M. Super-resolution microscopy reveals ultra-low CD19 expression on myeloma cells that triggers elimination by CD19 CAR-T (2019) Nat Commun. 2019;10(1):3137.

Pasca S, Tomuleasa C, Teodorescu P, Ghiaur G, Dima D, Moisoiu V, Berce C, Stefan C, Ciechanover A, Einsele H (2019) KRAS/NRAS/BRAF Mutations as Potential Targets in Multiple Myeloma. Front Oncol. 2019;9:1137.

Rasche L, Einsele H, Nitschmann S (2019) Treatment of multiple myeloma with elotuzumab plus pomalidomide and dexamethasone. Internist (Berl). 2019;60(6):658-660.

Seibold M, Stuhmer T, Kremer N, Mottok A, Scholz CJ, Schlosser A, Leich E, Holzgrabe U, Brunnert D, Barrio S, Kortum KM, Solimando AG, Chatterjee M, Einsele H, Rosenwald A, Bargou RC, Steinbrunn T (2019) RAL GTPases mediate multiple myeloma cell survival and are activated independently of oncogenic RAS. Haematologica. 2019.

Solimando AG, Da Via MC, Cicco S, Leone P, Di Lernia G, Giannico D, Desantis V, Frassanito MA, Morizio A, Delgado Tascon J, Melaccio A, Saltarella I, Ranieri G, Ria R, Rasche L, Kortum KM, Beilhack A, Racanelli V, Vacca A, Einsele H (2019) High-Risk Multiple Myeloma: Integrated Clinical and Omics Approach Dissects the Neoplastic Clone and the Tumor Microenvironment. J Clin Med. 2019;8(7).

Straka C, Knop S, Vogel M, Muller J, Kropff M, Metzner B, Langer C, Sayer H, Jung W, Durk HA, Salwender H, Wandt H, Bassermann F, Gramatzki M, Rosler W, Wolf HH, Brugger W, Fischer T, Liebisch P, Engelhardt M, Einsele H (2019) Bortezomib consolidation following autologous transplant in younger and older patients with newly diagnosed multiple myeloma in two phase III trials. Eur J Haematol. 2019;103(3):255-267.

Walker BA, Mavrommatis K, Wardell CP, Ashby TC, Bauer M, Davies F, Rosenthal A, Wang H, Qu P, Hoering A, Samur M, Towfic F, Ortiz M, Flynt E, Yu Z, Yang Z, Rozelle D, Obenauer J, Trotter M, Auclair D, Keats J, Bolli N, Fulciniti M, Szalat R, Moreau P, Durie B, Stewart AK, Goldschmidt H, Raab MS, Einsele H, Sonneveld P, San Miguel J, Lonial S, Jackson GH, Anderson KC, Avet-Loiseau H, Munshi N, Thakurta A, Morgan
G (2019) A high-risk, Double-Hit, group of newly diagnosed myeloma identified by genomic analysis. Leukemia. 2019;33(1):159-170.

Went M, Sud A, Forsti A, Halvarsson BM, Weinhold N, Kimber S, van Duin M, Thorleifsson G, Holroyd A, Johnson DC, Li N, Orlando G, Law PJ, Ali M, Chen B, Mitchell JS, Gudbjartsson DF, Kuiper R, Stephens OW, Bertsch U, Broderick P, Campo C, Bandapalli OR, Einsele H, Gregory WA, Gullberg U, Hillengass J, Hoffmann P, Jackson GH, Jockel KH, Johnsson E, Kristinsson SY, Mellqvist UH, Nahi H, Easton D, Pharoah P, Dunning A, Peto J, Canzian F, Swerdlow A, Eeles RA, Kote-Jarai Z, Muir K, Pashayan N, consortium P, Nickel J, Nothen MM, Rafnar T, Ross FM, da Silva Filho MI, Thomsen H, Turesson I, Vangsted A, Andersen NF, Waage A, Walker BA, Wihlborg AK, Broyl A, Davies FE, Thorsteinsdottir U, Langer C, Hansson M, Goldschmidt H, Kaiser M, Sonneveld P, Stefansson K, Morgan GJ, Hemminki K, Nilsson B, Houlston RS (2019) Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma. Nat Commun. 2019;10(1):213.

Zilkowski I, Ziouti F, Schulze A, Hauck S, Schmidt S, Mainz L, Sauer M, Albrecht K, Jundt F, Groll J (2019) Nanogels Enable Efficient miRNA Delivery and Target Gene Downregulation in Transfection-Resistant Multiple Myeloma Cells. Biomacromolecules. 2019;20(2):916-926.

Ziouti F, Ebert R, Rummler M, Krug M, Muller-Deubert S, Ludemann M, Jakob F, Willie BM, Jundt F (2019) NOTCH Signaling Is Activated through Mechanical Strain in Human Bone Marrow-Derived Mesenchymal Stromal Cells. Stem Cells Int. 2019;2019:5150634.

Zentrum für endokrine Tumore (ZET)

An Y, Reimann M, Masjkur J, Langton K, Peitzsch M, Deutschbein T, Fassnacht M, Rogowski-Lehmann N, Beuschlein F, Fliedner S, Stell A, Prejbisz A, Januszewicz A, Lenders J, Bornstein SR, Eisenhofer G (2019) Adrenomedullary function, obesity and permissive influences of catecholamines on body mass in patients with chromaffin cell tumours. Int J Obes (Lond). 2019;43(2):263-275.

Assié G, Jouinot A, Fassnacht M, Libé R, Garinet S, Jacob L, Hamzaoui N, Neou M, Sakat J, de La Villéon B, Perlemoine K, Ragazzon B, Sibony M, Tissier F, Gaujoux S, Dousset B, Sbiera S, Ronchi CL, Kroiss M, Korpershoek E, De Krijger R, Waldmann J, Quinkler M, Haissaguerre M, Tabarin A, Chabre O, Luconi M, Mannelli M, Groussin L, Bertagna X, Baudin E, Amar L, Coste J, Beuschlein F, Bertherat J (2019) Value of Molecular Classification for Prognostic Assessment of Adrenocortical Carcinoma. JAMA Oncol. 2019 Jul 11; doi: 10.1001/jamaoncol.2019.1558. [Epub ahead of print].

Bathon K, Weigand I, Vanselow JT, Ronchi CL, Sbiera S, Schlosser A, Fassnacht M, Calebiro D (2019) Alterations in Protein Kinase A Substrate Specificity as a Potential Cause of Cushing's Syndrome. Endocrinology. 2019;160(2):447-459.

Belavgeni A, Bornstein SR, von Mässenhausen A, Tonnus W, Stumpf J, Meyer C, Othmar E, Latk M, Kanczkowski W, Kroiss M, Hantel C, Hugo C, Fassnacht M, Ziegler CG, Schally AV, Krone NP, Linkermann A (2019) 2019 Exquisite sensitivity of adrenocortical carcinomas to induction of ferroptosis. Proc Natl Acad Sci U S A. 2019 Oct 14; pii: 201912700. doi: 10.1073/pnas.1912700116. [Epub ahead of print].

Canu L, Van Hemert JAW, Kerstens M, Hartman RP, Khanna A, Kraljevic I, Kastelan D, Badiu C, Ambroziak U, Tabarin A, Haissaguerre M, Buitenwerf E, Visser A, Mannelli M, Arlt W, Chortis V, Bourdeau I, Gagnon N, Buchy M, Borson-Chazot F, Deutschbein T, Fassnacht M, Hubalewska Dydejczyk HA, Motyka M, Rzepka E, Casey RT, Challis BG, Quinkler M, Vroonen L, Spyroglou A, Beuschlein F, Lamas C, Young WF, Bancos I, Timmers HJLM (2019) CT characteristics of pheochromocytoma - Relevance for the evaluation of adrenal incidentaloma. J Clin Endocrinol Metab. 2019; 104(2):312-318.

Chortis V, Bancos I, Nijman T, Gilligan LC, Taylor AE, Ronchi CL, O'Reilly MW, Schreiner J, Asia M, Riester A, Perotti P, Libé R, Quinkler M, Canu L, Paiva I, Bugalho MJ, Kastelan D, Dennedy MC, Sherlock M, Ambroziak U, Vassiliadi D, Bertherat J, Beuschlein F, Fassnacht M, Deeks JJ, Biehl M, Arlt W (2019) Urine steroid metabolomics as a novel tool for detection of recurrent adrenocortical carcinoma. J Clin Endocrinol Metab. 2019 Oct 29. pii: dgz141. doi: 10.1210/clinem/dgz141. [Epub ahead of print].

Erlic Z, Kurlbaum M, Deutschbein T, Nölting S, Prejbisz A, Timmers HJ, Richter S, Prehn C, Weismann D, Adamski J, Januszewicz A, Reincke M, Fassnacht M, Robledo M, Eisenhofer G, Beuschlein F, Kroiss M. 2019 Metabolic impact of pheochromocytoma/paraganglioma (2019) Targeted metabolomics in patients before and after tumor removal. Eur J Endocrinol. 2019 Oct 1; pii: EJE-19-0589.R2. doi: 10.1530/EJE-19-0589. [Epub ahead of print].

Fankhauser M, Bechmann N, Lauseker M, Goncalves J, Favier J, Klink B, William D, Gieldon L, Maurer J, Spöttl G, Rank P, Knösel T, Orth M, Ziegler CG, Aristizabal Prada ET, Rubinstein G, Fassnacht M, Spitzweg C, Grossman AB, Pacak K, Beuschlein F, Bornstein SR, Eisenhofer G, Auernhammer CJ, Reincke M, Nölting S (2019) Synergistic Highly Potent Targeted Drug Combinations in different Pheochromocytoma Models including Human Tumor Cultures. Endocrinology. 2019 Jul 19; pii: en.2019-00410. doi: 10.1210/en.2019-00410. [Epub ahead of print].

Farahati J, Mäder U, Gilman E, Görges R, Maric I, Binse I, Hänscheid H, Herrmann K, Buck A, Bockisch A (2019) Changing trends of incidence and prognosis of thyroid carcinoma. Nuklearmedizin. 2019 Mar;58(2):86-92.

Friedl B, Kurlbaum M, Kroiss M, Fassnacht M, Scherf-Clavel O. A method for the minimally invasive drug monitoring of mitotane by means of volumetric absorptive microsampling for a home-based therapeutic drug monitoring (2019) Anal Bioanal Chem. 2019;411(17):3951-3962.

Geroula A, Deutschbein T, Langton K, Masjkur JR, Pamporaki C, Peitzsch M, Fliedner S, Timmers HJ, Bornstein SR, Beuschlein F, Stell A, Januszewicz A, Prejbisz A, Fassnacht M, Lenders J, Eisenhofer G (2019) Pheochromocytoma and paraganglioma: Clinical feature based disease probability in relation to catecholamine biochemistry and reason for disease suspicion. Eur J Endocrinol. 2019 Aug 1; pii: EJE-19-0159.R2. doi: 10.1530/EJE-19-0159. [Epub ahead of print].

Hescot S, Curras-Freixes M, Deutschbein T, van Berkel A, Vezzosi D, Amar L, de la Fouchardière C, Valdes N, Riccardi N, Do Cao C, Bertherat J, Goichot B, Beuschlein F, Drui D, Canu L, Niccoli P, Laboureau S, Tabarin A, Leboulleux S, Calsina B, Libé R, Faggiano A, Schlumberger M, Borson-Chazot F, Mannelli M, Gimenez-Roqueplo AP, Caron P, Timmers HJLM, Fassnacht M, Robledo M, Borget I, Baudin E (2019) European Network for the Study of Adrenal Tumors (ENS@ T). Prognosis of malignant pheochromocytoma and paraganglioma (MAPP-Prono study): an ENS@ T retrospective study. J Clin Endocrinol Metab. 2019;104(6):2367-2374.

Kroiss M, Deutschbein T, Schlötelburg W, Ronchi CL, Hescot S, Körbl D, Megerle F, Beuschlein F, Neu B, Quinkler M, Baudin E, Hahner S, Heidemeier A, Fassnacht M (2019) Treatment of Refractory Adrenocortical Carcinoma with Thalidomide: Analysis of 27 Patients from the European Network for the Study of Adrenal Tumours Registry. Exp Clin Endocrinol Diabetes. 2019 Oct;127(9):578-584. doi: 10.1055/a-0747-5571. Epub 2018 Nov 14.

Rao D, van Berkel A, Piscaer I, Young WF, Gruber L, Deutschbein T, Fassnacht M, Beuschlein F, Spyroglou A, Prejbisz A, Hanus K, Eisenhofer G, Manelli M, Canu L, Lenders JWM, Bancos I, Timmers HJLM (2019) Impact of 123 I-MIBG scintigraphy on clinical decision making in pheochromocytoma and paraganglioma. J Clin Endocrinol Metab. 2019 Mar 1; pii: jc.2018-02355. doi: 10.1210/jc.2018-02355. [Epub ahead of print].

Reibetanz J, Rinn B, Kunz AS, Flemming S, Ronchi CL, Kroiss M, Deutschbein T, Pulzer A, Hahner S, Kocot A, Germer CT, Fassnacht M, Jurowich C (2019) Patterns of Lymph Node Recurrence in Adrenocortical Carcinoma: Possible Implications for Primary Surgical Treatment. Ann Surg Oncol. 2019; 26(2):531-538.

Sbiera S, Perez-Rivas LG, Taranets L, Weigand I, Flitsch J, Graf E, Monoranu CM, Saeger W, Hagel C, Honegger J, Assie G, Hermus AR, Stalla GK, Herterich S, Ronchi CL, Deutschbein T, Reincke M, Strom TM, Popov N, Theodoropoulou M, Fassnacht M (2019) Driver mutations in USP8 wild type Cushing’s disease. Neuro Oncol. 2019; 21(10):1273-1283.

Sbiera S, Kendl S, Weigand I, Sbiera I, Fassnacht M, Kroiss M (2019) Hsp90 inhibition in adrenocortical carcinoma: Limited drug synergism with mitotane. Mol Cell Endocrinol. 2019;480:36-41.

Sbiera S, Kunz M, Weigand I, Deutschbein T, Dandekar T, Fassnacht M (2019) The New Genetic Landscape of Cushing's Disease: Deubiquitinases in the Spotlight. Cancers (Basel). 2019 Nov 8;11(11). pii: E1761. doi: 10.3390/cancers11111761.

Schweitzer S, Kunz M, Kurlbaum M, Vey J, Kendl S, Deutschbein T, Hahner S, Fassnacht M, Dandekar T, Kroiss M (2019) Plasma steroid metabolome profiling for the diagnosis of adrenocortical carcinoma. Eur J Endocrinol. 2019; 180(2):117-12.

Siebert C, Ciato D, Murakami M, Frei-Stuber L, Perez-Rivas LG, Monteserin-Garcia JL, Nölting S, Maurer J, Feuchtinger A, Walch AK, Haak HR, Bertherat J, Mannelli M, Fassnacht M, Korpershoek E, Reincke M, Stalla GK, Hantel C, Beuschlein F (2019) 2019 Heat Shock Protein 90 as a Prognostic Marker and Therapeutic Target for Adrenocortical Carcinoma. Front Endocrinol 19;10:487. doi: 10.3389/fendo.2019.00487.

Sun N, Kunzke T, Sbiera S, Kircher S, Feuchtinger A, Aichler M, Herterich S, Ronchi CL, Weigand I, Schlegel N, Waldmann J, Candida Villares Fragoso M, Whitsett TG, Gill AJ, Fassnacht M, Walch A, Kroiss M (2019) Prognostic Relevance of Steroid Sulfation in Adrenocortical Carcinoma Revealed by Molecular Phenotyping Using High-Resolution Mass Spectrometry Imaging. Clin Chem. 2019; 65(10):1276-1286.

Weigand I, Knobloch L, Flitsch J, Saeger W, Monoranu CM, Höfner K, Herterich S, Rotermund R, Ronchi CL, Buchfelder M, Glatzel M, Hagel C, Fassnacht M, Deutschbein T, Sbiera S (2019) Impact of USP8 gene mutations on protein deregulation in Cushing's disease. J Clin Endocrinol Metab. 2019 Mar 7; pii: jc.2018-02564. doi: 10.1210/jc.2018-02564. [Epub ahead of print].

Werner RA, Hänscheid H, Leal JP, Javadi MS, Higuchi T, Lodge MA, Buck AK, Pomper MG, Lapa C, Rowe SP (2019) Impact of Tumor Burden on Quantitative [68Ga] DOTATOC Biodistribution. Mol Imaging Biol. 2019 Aug;21(4):790-798.

Werner RA, Bundschuh RA, Higuchi T, Javadi MS, Rowe SP, Zsótér N, Kroiss M, Fassnacht M, Buck AK, Kreissl MC, Lapa C (2019) Volumetric and texture analysis of pretherapeutic 18F-FDG PET can predict overall survival in medullary thyroid cancer patients treated with Vandetanib. Endocrine. 2019; 63(2):293-300.

Zentrum für Maligne Hyperthermie

C.A. Ibarra Moreno, S. Hu, N. Kraeva, F. Schuster, S. Johannsen, H. Rueffert, W. Klingler, L. Heytens, S. Riazi (2019) An assessment of penetrance and clinical expression of malignant hyperthermia in individuals carrying diagnostic RYR1 mutations. Anesthesiology. 2019; 131: 983-991 (IP: 6,523).

Johannsen S, Schuster F (2019) Maligne Hyperthermie aktuell – Pathophysiologie, Diagnostik und Therapie. Anästhesiol Intensivmed Notfallmed Schmerzther. 2019; 54: 527-537 (IP: 0,265).

Schuster F, Johannsen S (2019) 28/m mit unklarer Tachykardie, Hyperkapnie und Tempe- raturanstieg. Vorbereitung auf die Facharztprüfung: Fall 22. Anästhesist. 2019,68 (Suppl 2): 180-183 (IP: 0,995).

Schuster F, Anesteder M, Roewer N (2019) Maligne Hyperthermie. In: R. Rossaint, C. Werner, B. Zwißler (Hrsg.) Die Anästhesiologie Springer-Verlag 4. Aufl. 2019.

Schuster F, Johannsen S (2019) Maligne Hyperthermie: pharmakologische Therapie - Update 2019. Anästhesiol Intensivmed Notfallmed Schmerzther. 2019; 54: 549-558 (IP: 0,265).

Zentrum für Primäre Immundefekte und Autoinflammatorische Erkrankungen

El-Helou SM, Biegner AK, Bode S, Ehl SR, Heeg M, Maccari ME, Ritterbusch H, Speckmann C, Rusch S, Scheible R, Warnatz K, Atschekzei F, Beider R, Ernst D, Gerschmann S, Jablonka A, Mielke G, Schmidt RE, Schürmann G, Sogkas G, Baumann UH, Klemann C, Viemann D, von Bernuth H, Krüger R, Hanitsch LG, Scheibenbogen CM, Wittke K, Albert MH, Eichinger A, Hauck F, Klein C, Rack-Hoch A, Sollinger FM, Avila A, Borte M, Borte S, Fasshauer M, Hauenherm A, Kellner N, Müller AH, Ülzen A, Bader P, Bakhtiar S, Lee JY, Heß U, Schubert R, Wölke S, Zielen S, Ghosh S, Laws HJ, Neubert J, Oommen PT, Hönig M, Schulz A, Steinmann S, Schwarz K, Dückers G, Lamers B, Langemeyer V, Niehues T, Shai S, Graf D, Müglich C, Schmalzing MT, Schwaneck EC, Tony HP, Dirks J, Haase G, Liese JG, Morbach H, Foell D, Hellige A, Wittkowski H, Masjosthusmann K, Mohr M, Geberzahn L, Hedrich CM, Müller C, Rösen-Wolff A, Roesler J, Zimmermann A, Behrends U, Rieber N, Schauer U, Handgretinger R, Holzer U, Henes J, Kanz L, Boesecke C, Rockstroh JK, Schwarze-Zander C, Wasmuth JC, Dilloo D, Hülsmann B, Schönberger S, Schreiber S, Zeuner R, Ankermann T, von Bismarck P, Huppertz HI, Kaiser-Labusch P, Greil J, Jakoby D, Kulozik AE, Metzler M, Naumann-Bartsch N, Sobik B, Graf N, Heine S, Kobbe R, Lehmberg K, Müller I, Herrmann F, Horneff G, Klein A, Peitz J, Schmidt N, Bielack S, Groß-Wieltsch U, Classen CF, Klasen J, Deutz P, Kamitz D, Lassay L, Tenbrock K, Wagner N, Bernbeck B, Brummel B, Lara-Villacanas E, Münstermann E, Schneider DT, Tietsch N, Westkemper M, Weiß M, Kramm C, Kühnle I, Kullmann S, Girschick H, Specker C, Vinnemeier-Laubenthal E, Haenicke H, Schulz C, Schweigerer L, Müller TG, Stiefel M, Belohradsky BH, Soetedjo V, Kindle G, Grimbacher B (2019) The German National Registry of Primary Immunodeficiencies (2012-2017). Front Immunol. 2019;10:1272.

Zentrum für seltene Bewegungsstörung

Bruggemann N, Domingo A, Rasche D, et al (2019) Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. JAMA Neurol. 2019 Feb 1;76(2):211-6.

Gonzalez-Escamilla G, Muthuraman M, Reich MM, et al (2019) Cortical network fingerprints predict deep brain stimulation outcome in dystonia. Mov Disord. 2019 Oct;34(10):1537- 46.

Zentrum für seltene Hormonstörungen

Barthel, A., et al. (2019) An Update on Addison's Disease. Exp Clin Endocrinol Diabetes. 2019;127(2-03): p. 165-175.

Burger-Stritt, S., et al. (2019) Emergency treatment of adrenal crisis with prednisone suppositories: a bioequivalence study in female patients with Addison's disease. Endocr Connect. 2019;8(4): p. 425-434.

Manetti, L., et al. (2019) Long-term safety and efficacy of subcutaneous pasireotide in patients with Cushing's disease: interim results from a long-term real-world evidence study. Pituitary. 2019;22(5): p. 542-551.

M, Weng AM, Geier B, Wörmann C, Scheffler A, Lehmann L, Oberberger J, Kraus BJ, Hahner S, Störk S, Klink T, Bauer WR, Hammer F, Köstler H (2019) Eur Heart J. Increased myocardial sodium signal intensity in Conn's syndrome detected by 23Na magnetic resonance imaging. Christa Cardiovasc Imaging. 2019 Mar 1;20(3):263-270. doi: 10.1093/ehjci/jey134.

Mangelis A, Jühlen R, Dieterich P, Peitzsch M, Lenders JWM, Hahner S, Schirbel A, Eisenhofer G. J S (2019) A steady state system for in vitroevaluation of steroidogenic pathway dynamics: Application for CYP11B1, CYP11B2 and CYP17 inhibitors. teroid Biochem Mol Biol. 2019 Apr;188:38-47. doi: 10.1016/j.jsbmb.2018.12.003. Epub 2018 Dec 6.

Osswald, A., et al. (2019) Long-Term Outcome of Primary Bilateral Macronodular Adrenocortical Hyperplasia After Unilateral Adrenalectomy. J Clin Endocrinol Metab. 2019;104(7): p. 2985-2993.

Popp, K.H., et al. (2019) Computer Vision Technology in the Differential Diagnosis of Cushing's Syndrome. Exp Clin Endocrinol Diabetes. 2019;127(10): p. 685-690.

Refardt J, Sailer COO, Chifu I, Winzeler B, Schnyder I, Fassnacht M, Fenske WK, Christ-Crain M. (2019) The challenges of sodium measurements - indirect versus direct ion selective method. Eur J Endocrinol. 2019 Jun 1;pii: EJE-19-0101.R1. doi: 10.1530/EJE-19-0101. [Epub ahead of print].

Sbiera, S., et al. (2019) Driver mutations in USP8 wild-type Cushing's disease. Neuro Oncol. 2019;21(10): p. 1273-1283.

Sbiera, S., et al. (2019) The New Genetic Landscape of Cushing's Disease: Deubiquitinases in the Spotlight. Cancers (Basel). 2019;11(11).

Schweitzer, S., et al. (2019) Plasma steroid metabolome profiling for the diagnosis of adrenocortical carcinoma. Eur J Endocrinol. 2019;180(2): p. 117-125.

Weigand, I., et al. (2019) Impact of USP8 Gene Mutations on Protein Deregulation in Cushing Disease. J Clin Endocrinol Metab. 2019;104(7): p. 2535-2546.

Winzeler B, Cesana-Nigro N, Refardt J, Vogt DR, Imber C, Morin B, Popovic M, Steinmetz M, Sailer CO, Szinnai G, Chifu I, Fassnacht M, Christ-Crain M (2019) Arginine- stimulated copeptin measurements - a new test for diabetes insipidus. Lancet. 2019; 394(10198):587-595.

Zentrum für seltene kindliche Knochenerkrankungen

Hofmann CE, Harmatz P, Vockley J, Högler W, Nakayama H, Bishop N, Martos-Moreno GÁ, Moseley S, Fujita KP, Liese J, Rockman-Greenberg C (2019) Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open- Label Study. ENB-010-10 Study Group. J Clin Endocrinol Metab. 2019 Jul 1;104(7):2735-2747.

Nentwich J, Ruf K, Girschick H, Holl-Wieden A, Morbach H, Hebestreit H, Hofmann C (2019) Physical activity and health-related quality of life in chronic non-bacterial osteomyelitis. Pediatr Rheumatol Online J. 2019 Jul 18;17(1):45.

Whyte MP, Leung E, Wilcox WR, Liese J, Argente J, Martos-Moreno GÁ, Reeves A, Fujita KP, Moseley S, Hofmann C (2019) Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study. Study 011-10 Investigators. J Pediatr. 2019 Jun;209:116-124.e4.

Zentrum für seltene neuromuskuläre Erkrankungen

Dietz C, Müller M, Reinhold AK, Karch L, Schwab B, Forer L, Vlckova E, Brede EM, Jakubietz R, Üçeyler N, Meffert R, Bednarik J, Kress M, Sommer C, Dimova V, Birklein F, Rittner HL (2019) What is normal trauma healing and what is complex regional pain syndrome I? An analysis of clinical and experimental biomarkers. Pain 2019;160:2278- 89.

Doppler K, Schuster Y, Appeltshauser L, Biko L, Villmann C, Weishaupt A, Werner C, Sommer C, Karl F, Wußmann M, Kreß L, Malzacher T, Fey P, Groeber-Becker F, Üçeyler N (2019) Anti-CNTN1 IgG3 induces acute conduction block and motor deficits in a passive transfer 3. Patient-derived in vitro skin models for investigation of small fiber pathology. Ann Clin Transl Neurol. 2019;6:1797-806.

Held M, Karl F, Vlckova E, Rajdova A, Escolano-Lozano F, Stetter C, Bharti R, Förstner KU, Leinders M, Dušek L, Birklein F, Bednarik J, Sommer C, Üçeyler N (2019) Sensory profiles and immune-related expression patterns of patients with and without neuropathic pain after peripheral nerve lesion. Pain. 2019 Oct;160(10):2316-2327. doi: 10.1097/j.pain.0000000000001623. PMID: 31145221

Karl F, Wußmann M, Kreß L, Malzacher T, Fey P, Groeber-Becker F, Üçeyler N (2019) Patient-derived in vitro skin models for investigation of small fiber pathology. Ann Clin Transl Neurol. 2019;6:1797-806.

Klein T, Klug K, Henkel L, Kwok CK, Edenhofer F, Klopocki E, Kurth I, Üçeyler N (2019) Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy. Stem Cell Res. 2019;35:101396.

Merkies ISJ, van Schaik IN, Léger JM, Bril V, van Geloven N, Hartung HP, Lewis RA, Sobue G, Lawo JP, Durn BL, Cornblath DR, De Bleecker JL, Sommer C, Robberecht W, Saarela M, Kamienowski J, Stelmasiak Z, Tackenberg B, Mielke O (2019) Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies. J Peripher Nerv Syst. 2019;24:48-55.

Mielke O, Bril V, Cornblath DR, Lawo JP, van Geloven N, Hartung HP, Lewis RA, Merkies ISJ, Sobue G, Durn B, Shebl A, van Schaik IN (2019) Restabilization treatment after intravenous immunoglobulin withdrawal in chronic inflammatory demyelinating polyneuropathy: Results from the pre-randomization phase of the Polyneuropathy And Treatment with Hizentra study. J Peripher Nerv Syst. 2019;24:72-9.

Schubert AL, Held M, Sommer C, Üçeyler N (2019) Reduced gene expression of netrin family members in skin and sural nerve specimens of patients with painful peripheral neuropathies. J Neurol. 2019; 266:2812-20.

Stengel H, Vural A, Brunder AM, Heinius A, Appeltshauser L, Fiebig B, Giese F, Dresel C, Papagianni A, Birklein F, Weis J, Huchtemann T, Schmidt C, Körtvelyessy P, Villmann C, Meinl E, Sommer C, Leypoldt F, Doppler K (2019) Anti-pan-neurofascin IgG3 as a marker of fulminant autoimmune neuropathy. Neurol Neuroimmunol Neuroinflamm. 2019;6.

Wirsching I, Ort N, Üçeyler N (2019) ALS or ALS mimic by neuroborreliosis-A case report. Clin Case Rep. 2019 Dec 11;8:86-91.

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Zentrum für Seltene Erkrankungen | Universitätsklinikum Würzburg |

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