• IGOS (International GBS outcome study): Studie zum Krankheitsverlauf und Folgezustand beim Guillain-Barré-Syndrom (GBS).
• IDOBIN: Initiative for development of novel biomarkers for Immune Neuropathies - Europäisch-Indische Studie zu Biomarkern bei der CIDP. 
• Maximum Bite Force in Patients with Spinal Muscular Atrophy during the First Year of Nusinersen Therapy (DRKS-ID: DRKS00015842).
• SMA/MRT-Studie.
• Studie zur Prävalenz und Pathogenität von TTR-Mutationen.
• Teilnahme am SMArtCare-Register: Erfassung möglichst aller Patienten, die wegen einer SMA kausal behandelt werden.
• Kohortenstudie: Predictors for occurrence and outcome of exacerbation and myasthenic crisis: a myasthenia gravis cohort study (zusammen mit den Uniklinika Düsseldorf, Essen, Magdeburg und Münster).
• Kohortenstudie zum Verlauf der COVID-19-Infektion bei Myasthenikern in Deutschland (federführend: Dr. Stascheit, Berlin).
• Teilnahme am Deutschen Myasthenie Register (MyaReg).

Publikationsliste 2024

Zenrum für Seltene neuromuskuläre Erkrankungen im Kindes- und Erwachsenenalter

Ney, S., Gertz, R., Pennig, L., Nies, R., Holtick, U., Völker, L., Wunderlich, G., Seuthe, K., Hohmann, C., Metze, C., Nähle, C.P., Stein, J., Brüwer, M., ten Freyhaus, H., Pfister, R. (2024). Multiparametric monitoring of disease progression in contemporary patients with wild-type transthyretin amyloid cardiomyopathy initiating tafamidis treatment. J. Clin. Med. 13(1), 284; https://doi.org/10.3390/jcm13010284.

Günther, R. Wurster, C.D., Brakemeier, S., Osmanovic, A., Schreiber-Katz, O., Petri, S., Uzelac, Z., Hiebeler, M., Thiele, S., Walter, M.C., Weiler, M., Kessler, T., Freigang, M., Lapp, H.S., Cordts, I., Lingor, P., Deschauer, M., Hahn, A., Martakis, K., Steinbach, R., Ilse, B., Rödiger, A., Bellut, J., Nentwich, J., Zeller, D., Muhandes, M.T., Baum, T., Koch, J., Schrank, B., Fischer, S., Hermann, A., Kamm, C., Naegel, S., Mensch, A., Weber, M., Neuwirth, C., Lehmann, H.C., Wunderlich, G., Stadler, C., Tomforde, M., George, A., Groß, M., Pechmann, A., Kirschner, J., Türk, M., Schimmel, M., Bernert, G., Martin, P., Rauscher, C., Meyer zu Hörste, G., Baum, P., Löscher, W., Flotats-Bastardas, M., Köhler, C., Probst-Schendzielorz, K., Goldbach, S., Schara-Schmidt, U., Müller-Felber, W., Lochmüller, H., von Velsen, O., Kleinschnitz, C., Ludolph, A., Hagenacker, T. (2024). Long-term efficacy and safety of Nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study. Lancet Reg Health Eur. Feb 6;39:100862. doi: 10.1016/j.lanepe.2024.100862.

Graessner, H., Reinhard, C., Bäumer, T., Baumgärtner, A., Brockmann, K., Brüggemann, N., Bültmann, E., Erdmann, J., Heise, K., Höglinger, G., Hüning, I., Kaiser, F., Klein, C., Klopstock, T., Krägeloh-Mann, I., Krämer, M., Lüdtke, K., Mücke, M., Musacchio, T., Nadke, A., Ritter, G., Röse, K., Schippers, C., Schöls, L., Schüle, R., Schulz, J., Sproß, J., Stasch, E., Wunderlich, G., Münchau, A. (2024). Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases. Orphanet J Rare Dis Feb 13;19(1):62. doi: 10.1186/s13023-024-03023-1.

Vill, K., Tacke, M., König, A., Baumann, M., Baumgartner, M., Berg, D., Bernert, G., Blaschek, A., Deschauer, M., Flotats-Bastardas, M., Friese, J., Goldbach, S., Gross, M., Günther, R., Hahn, A., Hagenacker, T., Hauser, E., Horber, V., Illsinger, S., Johannsen, J., Kamm, C., Koch, J.C., Koelbel, H., Koehler, C., Kolzter, K., Lochmüller, H., Ludolph, A., Mensch, A., Meyer zu Hoerste, G., Mueller, M., Mueller-Felber, W., Neuwirth, C., Petri, S., Probst-Schendzielorz, K., Pühringer, M., Steinbach, R., Schara-Schmidt, U., Schimmel, M., Schrank, B., Schwartz, O., Schlachter, K., Schwerin-Nagel, A., Schreiber, G., Smitka, M., Topakian, R., Trollmann, R., Tuerk, M., Theophil, M., Rauscher, C., Vorgerd, M., Walter, M.C., Weiler, M., Weiss, C., Wilichowski, E., Wurster, C.D., Wunderlich, G., Zeller, D., Ziegler, A., Kirschner, J, Pechmann, A. and SMArtCARE study group (2024). Spinal muscular atrophy: Standardised retrospective assessment of natural history in 268 patients with 4 copies of SMN2. J Neurol Feb 27. doi: 10.1007/s00415-024-12188-5. Online ahead of print.

Langerscheid, F., Wied, T., Al Kabbani, A., van Eimeren, T., Wunderlich, G., Zempel, H. (2024). Genetic Forms of Tauopathies – Inherited Causes and Implications of Alzheimer’s Disease-like TAU Pathology in Primary and Secondary Tauopathies. J Neurol Jun;271(6):2992-3018. doi: 10.1007/s00415-024-12314-3. Epub 2024 Mar 30.

Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A, SMARTCARE study group (2024). Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial. JAMA Pediatr Jun;178(6):540-547. doi: 10.1001/jamapediatrics.2024.0492.

Kohle, F., Wunderlich, G., Fink, G.R., Schroeter, M., Lehmann, H.C., Schneider, C. (2024). Rituximab in non-systemic vasculitic neuropathy: a single-center experience. J Neurol Jul;271(7):4406-4411. doi: 10.1007/s00415-024-12378-1. Epub 2024 Apr 24.

Svacina, M.K.R., Sprenger-Svačina, A., Kohle, F., Wunderlich, G., Lehmann, H.C., Schneider, C. (2024). Tissue doppler ultrasound of arm muscles to assess myotonia in myotonic dystrophies: an exploratory study. Muscle Nerve 70(5):954-962. doi: 10.1002/mus.28229. Epub 2024 Aug 13.

Kohle, F., Stark, C., Klünter, H.-D., Wernicke, D., Wunderlich, G., Fink, G.R., Klussmann, J.P., Schroeter, M., Lehmann, H.C. (2024). Peripheral neuropathy, an independent risk factor for falls in the elderly, impairs stepping as a postural control mechanism – a cross-sectional cohort study. J Peripher Nerv Syst Sep 1. doi: 10.1111/jns.12656. Online ahead of print.

Kruse, T., Leflerovà, D., Cap, A., Portegys, S., Wirth, B., Heller, R., Brakemeier, S., Hagenacker, T., Braumann, B., Wunderlich, G. (2024). Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group – a prospective cross-sectional study with a multimodal approach. Orphanet J Rare Dis Oct 15;19(1):382. doi: 10.1186/s13023-024-03405-5. PMID: 39407277.

Weiß, C., Becker, L.L., Friese, J., Blaschek, A., Hahn, A., Illsinger, S., Schwartz, O., Bernert, G., Hagen, M.V., Husain, R.A., Goldhahn, K., Kirschner, J., Pechmann, A., Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner GM, Cirak S, Hasselmann O, Kaindl AM, Garbade SF, Johannsen J, Ziegler A; SMArtCARE and Swiss-Reg-NMD study group (2024). Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study. Lancet Reg Health Eur Oct 7;47:101092. doi: 10.1016/j.lanepe.2024.101092. eCollection 2024 Dec.

Goerttler, T., Dorner, M.B., van der Linden, C., Kienitz, R., Petrik, S., Blechinger, S., Spickschen, J., Betz, I.R., Hinrichs, C., Steindl, D., Weber, F., Musacchio, T., Wunderlich, G., Rueger, M.A., Barbe, M.T., Dafsari, H., Demir, S., Lapa, S., Zeiner, P.S., Strzelczyk, A., Tinnemann, P., Kleine, C., Totzeck A., Klebe, S., Mikolajewska, A., Dorner, B.G., Fertl, E., Grefkes C., Fink, G.R., Kleinschnitz, C., Hagenacker, T. (2024). Iatrogenic botulism after intragastric botulinum neurotoxin injections – a major outbreak. Neurol Res Pract Oct 29;6(1):52. doi: 10.1186/s42466-024-00350-3.

Wendlandt, M., Erdmann, H., Rost, S., Lucas, M.C., Becker, K., Kleinle, S., Timmer, M., Bier, A., Wunderlich, G., Wenninger, S., Walter, M.C., Schoser, B., Holinski-Feder, E., Abicht, A. (2024). Updated structure of CNBP repeat expansions in patients with myotonic dystrophy type 2 and its implication for standard diagnostics. Neurol Genet Dec 18;11(1):e200220. doi: 10.1212/NXG.0000000000200220. eCollection 2025 Feb. PMID: 39703464.

Zentrum für Dystone Bewegungsstörungen im Kindes- und Jugendalter

Jiraporn Ousingsawat, Khaoula Talbi, Hilario Gómez-Martín, Anne Koy, Alberto Fernández-Jaén, Hasan Tekgül, Esra Serdaroğlu, Rainer Schreiber, Juan Dario Ortigoza-Escobar, Karl Kunzelmann. Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia. Brain 2024

Simon Sommer, Andreas Panzer, Annikki Bertolini et al. Spectrum of Clinical and Imaging Features of Children With GFAP Astrocytopathy. Neurol Neuroimmunol Neuroinflamm 2025

Gonzalo P Solis, Yonika A Larasati, Moritz Thiel et al. GNAO1 Mutations Affecting the N-Terminal α-Helix of Gαo Lead to Parkinsonism. Mov Disord 2024

Yonika A Larasati, Moritz Thiel, Alexey Koval et al. Zinc for GNAO1 encephalopathy: Preclinical profiling and a clinical case. Med 2025

Jana Domínguez Carral, Carola Reinhard, Darius Ebrahimi-Fakhari et al. Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies. Front Neurol 2024

Helga Haberfehlner, Zachary Roth, Inti Vanmechelen et al. A Novel Video-Based Methodology for Automated Classification of Dystonia and Choreoathetosis in Dyskinetic Cerebral Palsy During a Lower Extremity Task. Neurorehabil Neural Repair 2024

Ricardo Loução, Julia Burkhardt, Jochen Wirths et al. Diffusion tensor imaging in pediatric patients with dystonia. NeuroImage 2024

Möller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedláčková L, Laššuthová P, Libá Z, Vlčková M, William N, Klee EW, Gavrilova RH, Lévy J, Capri Y, Scavina M, Körner RW, Valivullah Z, Weiß C, Möller GM, Frazier Z, Roberts A, Gener B, Scala M, Striano P, Zara F, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, Küsters B, Beggs AH, Sveden A, Chopra M, Genetti CA, Nicolai J, Dötsch J, Koy A, Bönnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans NC, Jungbluth H, Dafsari HS. The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Brain. 2025 Feb 3;148(2):597-612. doi: 10.1093/brain/awae183. PMID: 38848546; PMCID: PMC11788221.

Zentrum für genetisch bedingte Haut– und Bindegewebserkrankungen

Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.

Frommherz L, Giehl K, Hofmann J, Huebner S, Kiekbusch K, Sabkova T, Süßmuth K, Alter S, Tantcheva-Poór I, Ott H, Fischer J, Has C.J Eur Acad Dermatol Venereol. 2025 May;39(5):1028-1037. doi: 10.1111/jdv.20096. Epub 2024 May 13.PMID: 38741524 

Ehlers-Danlos Syndromes and Related Disorders: Diagnostic Challenges and the Need for an Interdisciplinary Patient Care in Germany.

Kernich N, Peters F, Schreml J, Semler O, Koch M, Schönau E, Huntgeburth M, Eysel P, Krieg T, von Stebut-Borschitz E, Tantcheva-Poór I.Dermatology. 2025;241(2):124-132. doi: 10.1159/000542026. Epub 2024 Dec 10.PMID: 39657610

[Inflammatory dermatoses in children and adolescents : Diagnosis and treatment of atopic dermatitis and psoriasis].

Süßmuth K, Magnolo N, Oji V, Koll PO, Striegel A, Tantcheva-Poór I.Dermatologie (Heidelb). 2024 Apr;75(4):325-339. doi: 10.1007/s00105-023-05257-9. Epub 2024 Feb 14.PMID: 38353728 Review. German.

Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.

Kumar S, Borisov O, Maj C, Ralser DJ, Humbatova A, Hanneken S, Schmieder A, Groß J, Maintz L, Heineke A, Knuever J, Fagerberg C, Parmentier L, Anemüller W, Oji V, Tantcheva-Poór I, Fölster-Holst R, Wenzel J, Krawitz PM, Frank J, Betz RC.J Invest Dermatol. 2024 Jan;144(1):181-184. doi: 10.1016/j.jid.2023.04.036. Epub 2023 Jul 17.

Zentrum für Seltene Lungenerkrankungen

Standards for the care of people with cystic fibrosis; establishing and maintaining health.

Southern KW, Addy C, Bell SC, Bevan A, Borawska U, Brown C, Burgel PR, Button B, Castellani C, Chansard A, Chilvers MA, Davies G, Davies JC, De Boeck K, Declercq D, Doumit M, Drevinek P, Fajac I, Gartner S, Georgiopoulos AM, Gursli S, Gramegna A, Hansen CM, Hug MJ, Lammertyn E, Landau EEC, Langley R, Mayer-Hamblett N, Middleton A, Middleton PG, Mielus M, Morrison L, Munck A, Plant B, Ploeger M, Bertrand DP, Pressler T, Quon BS, Radtke T, Saynor ZL, Shufer I, Smyth AR, Smith C, van Koningsbruggen-Rietschel S.J Cyst Fibros. 2024 Jan;23(1):12-28. 

Standards for the care of people with cystic fibrosis (CF); recognising and addressing CF health issues.

Burgel PR, Southern KW, Addy C, Battezzati A, Berry C, Bouchara JP, Brokaar E, Brown W, Azevedo P, Durieu I, Ekkelenkamp M, Finlayson F, Forton J, Gardecki J, Hodkova P, Hong G, Lowdon J, Madge S, Martin C, McKone E, Munck A, Ooi CY, Perrem L, Piper A, Prayle A, Ratjen F, Rosenfeld M, Sanders DB, Schwarz C, Taccetti G, Wainwright C, West NE, Wilschanski M, Bevan A, Castellani C, Drevinek P, Gartner S, Gramegna A, Lammertyn E, Landau EEC, Plant BJ, Smyth AR, van Koningsbruggen-Rietschel S, Middleton PG.J Cyst Fibros. 2024 Mar;23(2):187-20

Standards for the care of people with cystic fibrosis (CF); Planning for a longer life.

Gramegna A, Addy C, Allen L, Bakkeheim E, Brown C, Daniels T, Davies G, Davies JC, De Marie K, Downey D, Felton I, Hafkemeyer S, Hamouda S, Kendall V, Lindberg U, Macek M, Mayell S, Pearlsman O, Schechter MS, Salvatori L, Sands D, Schwarz C, Shteinberg M, Taylor J, Taylor-Cousar JL, Taylor-Robinson D, Watkins B, Verkleij M, Bevan A, Castellani C, Drevinek P, Gartner S, Lammertyn E, Landau EEC, Middleton PG, Plant BJ, Smyth AR, van Koningsbruggen-Rietschel S, Burgel PR, Southern KW.J Cyst Fibros. 2024 May;23(3):375-387

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ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.

De Wachter E, De Boeck K, Sermet-Gaudelus I, Simmonds NJ, Munck A, Naehrlich L, Barben J, Boyd C, Veen SJ, Carr SB, Fajac I, Farrell PM, Girodon E, Gonska T, Grody WW, Jain M, Jung A, Kerem E, Raraigh KS, van Koningsbruggen-Rietschel S, Waller MD, Southern KW, Castellani C; ECFS Diagnostic Network Working Group.J Cyst Fibros. 2024 May;23(3):388-397

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Raidt J, Riepenhausen S, Pennekamp P, Olbrich H, Amirav I, Athanazio RA, Aviram M, Balinotti JE, Bar-On O, Bode SFN, Boon M, Borrelli M, Carr SB, Crowley S, Dehlink E, Diepenhorst S, Durdik P, Dworniczak B, Emiralioğlu N, Erdem E, Fonnesu R, Gracci S, Große-Onnebrink J, Gwozdziewicz K, Haarman EG, Hansen CR, Hogg C, Holgersen MG, Kerem E, Körner RW, Kötz K, Kouis P, Loebinger MR, Lorent N, Lucas JS, Maj D, Mall MA, Marthin JK, Martinu V, Mazurek H, Mitchison HM, Nöthe-Menchen T, Özçelik U, Pifferi M, Pogorzelski A, Ringshausen FC, Roehmel JF, Rovira-Amigo S, Rumman N, Schlegtendal A, Shoemark A, Sperstad Kennelly S, Staar BO, Sutharsan S, Thomas S, Ullmann N, Varghese J, von Hardenberg S, Walker WT, Wetzke M, Witt M, Yiallouros P, Zschocke A, Ziętkiewicz E, Nielsen KG, Omran H.Eur Respir J. 2024 

[CF Lung Disease - a German S3 Guideline: Pseudomonas aeruginosa].

Schwarz C, Bend J, Hebestreit H, Hogardt M, Hügel C, Illing S, Mainz JG, Rietschel E, Schmidt S, Schulte-Hubbert B, Sitter H, Wielpütz MO, Hammermann J, Baumann I, Brunsmann F, Dieninghoff D, Eber E, Ellemunter H, Eschenhagen P, Evers C, Gruber S, Koitschev A, Ley-Zaporozhan J, Düesberg U, Mentzel HJ, Nüßlein T, Ringshausen FC, Sedlacek L, Smaczny C, Sommerburg O, Sutharsan S, Vonberg RP, Weber AK, Zerlik J.Pneumologie. 2024 Jun;78(6):367-399

Zentrum für Seltene oro- und kraniofaziale Fehlbildungen im Bereich des Schädels und Gesichts

Kruse T, Leflerovà D, Cap A, Portegys S, Wirth B, Heller R, Brakemeier S, Hagenacker T, Braumann B, Wunderlich G. Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach. Orphanet J Rare Dis. 2024 Oct 15;19(1):382. doi: 10.1186/s13023-024-03405-5. PMID: 39407277; PMCID: PMC11481369.

Stolte B, Neuhoff S, Lipka J, Schlag M, von Velsen O, Kruse T, Deuschl C, Kleinschnitz C, Hagenacker T. Performance fatigability in adults with spinal muscular atrophy treated long-term with nusinersen. Muscle Nerve. 2024 Dec;70(6):1223-1229. doi: 10.1002/mus.28269. Epub 2024 Oct 3. PMID: 39360659.

Al Ali Alattar L, Portegys S, Kruse T. Objektivierung der Kaufunktion – Ein multimodaler Ansatz zur Charakterisierung von Muskelkraft und -ausdauer bei immobilen Probanden. Kieferorthopädie Nachrichten. 2024 Dec; 22(12): 1-8.

Achterrath S, Graf I, Guevara R, Braumann B, Kruse T. Predictors for long-term relapse of orthodontic treatment in patients with cleft lip and palate. A clinical follow-up study. Clin Oral Investig. 2024 Apr 3;28(4):239. doi: 10.1007/s00784-024-05632-3. PMID: 38568324.

Ishorst N, Hölzel S, Greve C, Yilmaz Ö, Lindenberg T, Lambertz J, Drichel D, Zametica B, Mingardo E, Kalanithy JC, Channab K, Kibris D, Henne S, Degenhardt F, Siewert A, Dixon M, Kruse T, Ongkosuwito E, Girisha KM, Pande S, Nowak S, Hagelueken G, Geyer M, Carels C, van Rooij IALM, Ludwig KU, Odermatt B, Mangold E. Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models. Eur J Hum Genet. 2024 Dec 19. doi: 10.1038/s41431-024-01775-9. Epub ahead of print. PMID: 39702590.

Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter

Folkestad, L., S. K. Prakash, S. C. S. Nagamani, N. H. Andersen, E. Carter, J. D. Hald, R. J. Johnson, B. Langdahl, E. M. Perfetto, C. Raggio, S. Ralston, R. A. Sandhaus, O. Semler, L. Tosi and E. Orwoll (2024).

"Cardiovascular disease in adults with osteogenesis imperfecta: Clinical characteristics, care recommendations and research priorities identified using a modified Delphi technique."

J Bone Miner Res.

Hart, T., I. Westerheim, T. van Welzenis, O. Semler, C. Raggio, F. Rauch, R. Dadzie, S. Prince and L. L. Wekre (2024).

"The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults."

Orphanet J Rare Dis 19(1): 222.

Kernich, N., F. Peters, J. Schreml, O. Semler, M. Koch, E. Schonau, M. Huntgeburth, P. Eysel, T. Krieg, E. von Stebut-Borschitz and I. Tantcheva-Poor (2024).

"Ehlers-Danlos syndromes and related disorders: diagnostic challenges and the need for an interdisciplinary patient care in Germany."

Dermatology: 1-23.

Sagar, R. L., E. Astrom, L. S. Chitty, B. Crowe, A. L. David, C. DeVile, A. Forsmark, V. Franzen, G. Hermeren, M. Hill, M. Johansson, C. Lindemans, P. Lindgren, W. Nijhuis, D. Oepkes, M. Rehberg, N. E. Sahlin, R. Sakkers, O. Semler, M. Sundin, L. Walther-Jallow, E. Verweij, M. Westgren and C. Gotherstrom (2024).

"An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol."

BMJ Open 14(6): e079767.

van Welzenis, T., I. Westerheim, T. Hart, L. L. Wekre, O. Semler, F. Rauch, L. Dewavrin, R. Dadzie, S. Prince and C. Raggio (2024).

"The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults." BMC Public Health 24(1): 3318.

Westerheim, I., T. Hart, T. van Welzenis, L. L. Wekre, O. Semler, C. Raggio, M. B. Bober, M. Rapoport, S. Prince and F. Rauch (2024).

"The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers."

Orphanet J Rare Dis 19(1): 128.

Reviews

Celli, L., M. R. Garrelfs, R. J. B. Sakkers, M. W. Elting, M. Celli, A. Bokenkamp, C. Smits, T. Goderie, J. M. Smit, L. A. Schwarte, P. R. Schober, W. D. Lubbers, M. C. Visser, A. J. Kievit, B. J. van Royen, M. Gilijamse, W. H. Schreuder, T. Rustemeyer, A. Pramana, J. J. Hendrickx, M. R. Dahele, P. Saeed, A. C. Moll, K. R. Curro-Tafili, E. A. E. Ghyczy, C. Dickhoff, R. A. de Leeuw, J. H. Bonjer, J. A. Nieuwenhuijzen, T. C. Konings, A. F. Engelsman, A. M. Eeckhout, J. G. van den Aardweg, P. J. Thoral, D. P. Noske, L. Dubois, B. P. Teunissen, O. Semler, L. L. Wekre, K. Maasalu, A. Martson, L. Sangiorgi, P. Versacci, M. Riminucci, P. Grammatico, A. Zambrano, L. Martini, M. Castori, E. Botman, I. Westerheim, L. Zhytnik, D. Micha and E. M. W. Eekhoff (2024).

"Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta."

Calcif Tissue Int 115(6): 960-975.

Folkestad, L., J. D. Hald, L. Tosi, C. Raggio, O. Semler, B. Langdahl and S. H. Ralston (2024).

"Osteogenesis Imperfecta Is More Than a Pediatric Disorder-There Is a Need for Adult Care Evidence to Guide Clinicians."

J Clin Endocrinol Metab 109(2): e866-e867.

Hald, J. D., B. Langdahl, L. Folkestad, L. L. Wekre, R. Johnson, S. C. S. Nagamani, C. Raggio, S. H. Ralston, O. Semler, L. Tosi and E. Orwoll (2024).

"Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood."

Calcif Tissue Int 115(6): 863-872.

Saraff, V., A. M. Boot, A. Linglart, O. Semler, P. Harvengt, A. Williams, K. M. A. Bailey, F. Glen, E. H. Davies, S. Wood, S. Greentree and A. J. Rylands (2024).

"A patient-centred and multi-stakeholder co-designed observational prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphataemia (XLH)."

PLoS One 19(1): e0295080.

Stasek, S., F. Zaucke, H. Hoyer-Kuhn, J. Etich, S. Reincke, I. Arndt, M. Rehberg and O. Semler (2024).

"Osteogenesis imperfecta: shifting paradigms in pathophysiology and care in children."

J Pediatr Endocrinol Metab.

Buchkapitel

Giulio Gatto, Wendy Pérez Franco, Heike-Katharina Hoyer-Kuhn, Oliver Semler, Antonella Forlino, Roberta Besio, and Frank Zaucke

Osteogenesis Imperfecta and Related Diseases: Collagen I Alterations in Skeletal and Extraskeletal Tissues

In The Extracellular Matrix in Genetic Skeletal Disorders Springer Verlage 2024

Zentrum für Seltene Syndrome mit erhöhtem Tumorrisiko

Mert Karakaya, Iman Ragab, Vera Riehmer, Florian Erger, Nihal Hussien Aly, Seung Woo Ryu, Go Hun Seo, Marc Hoemberg, Anne Maria Schultheis, Christian Netzer, Boris Decarolis. ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches. Eur J Hum Genet. 2024 Dec 3. doi: 10.1038/s41431-024-01739-z.

Zentrum für seltene und erbliche Nierenerkrankungen bei Kindern und Erwachsenen

Arjune S,  Späth MR,  Oehm S,  Todorova P,  Schunk SJ,  Lettenmeier K,  Chon SH,  Bartram MP,  Antczak P,  Grundmann F,  Fliser D,  Müller RU. (2024)

DKK3 as a potential novel biomarker in patients with autosomal polycystic kidney disease.

Clin Kidney J. doi: 10.1093/ckj/sfad262

van Heugten MH,  Blijdorp CJ,  Arjune S,  van Willigenburg H,  Bezstarosti K,  Demmers JAA,  Musterd-Bhaggoe U,  Meijer E,  Gansevoort RT,  Zietse R,  Hayat S,  Kramann R,  Müller RU,  Salih M,  Hoorn EJ,  DIPAK Consortium. (2024)

Matrix Metalloproteinase-7 in Urinary Extracellular Vesicles Identifies Rapid Disease Progression in Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol. Doi: 10.1681/ASN.0000000000000277

Lenders M,  Nowak A,  Cybulla M,  Kaufeld J,  Köhn AF,  Muschol NM,  Kurschat C,  Brand E. (2024)

Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease. Orphanet J Rare Dis. Doi: 10.1186/s13023-024-03503-4.

Rroji M,  Kasa M,  Spahia N,  Spasovski G,  Müller RU. (2024)

Familial renal glycosuria as a genetic model of long-term SGLT2 inhibition: potential implications for calcium phosphate metabolism and bone health. J Nephrol. Doi: 10.1007/s40620-024-02164-7.

Schömig T,  Diefenhardt P,  Plagmann I,  Trinsch B,  Merz T,  Crispatzu G,  Unnersjö-Jess D,  Nies J,  Pütz D,  Sierra Gonzalez C,  Schermer B,  Benzing T,  Brinkkoetter PT,  Brähler S. (2024)

The podocytes' inflammatory responses in experimental GN are independent of canonical MYD88-dependent toll-like receptor signaling. Sci Rep. Doi: 10.1038/s41598-024-52565-8.

Kosnik MB,  Antczak P,  Fantke P. (2024)

Data-Driven Characterization of Genetic Variability in Disease Pathways and Pesticide-Induced Nervous System Disease in the United States Population. Environ Health Perspect. Doi: 10.1289/EHP14108.

Ney S,  Gertz RJ,  Pennig L,  Nies RJ,  Holtick U,  Völker LA,  Wunderlich G,  Seuthe K,  Hohmann C,  Metze C,  Nähle CP,  von Stein J,  Brüwer M,  Ten Freyhaus H,  Pfister R. (2024) Multiparametric Monitoring of Disease Progression in Contemporary Patients with Wild-Type Transthyretin Amyloid Cardiomyopathy Initiating Tafamidis Treatment. J Clin Med. Doi: 10.3390/jcm13010284.

Boeckhaus J,  Gale DP,  Simon J,  Ding J,  Zhang Y,  Bergmann C,  Turner AN,  Hall M,  Sayer JA,  Srivastava S,  Kang HG,  Cerkauskaite-Kerpauskiene A,  Gillion V,  Claes KJ,  Krueger B,  de Fallois J,  Walden U,  Choi M,  Schueler M,  Mueller RU,  Todorova P,  Hohenstein B,  Zeisberg M,  Friede T,  Knebelmann B,  Halbritter J,  Gross O. (2024)

SGLT2-Inhibition in Patients With Alport Syndrome. Kidney Int Rep. doi: 10.1016/j.ekir.2024.09.014.

Kaufeld JK,  Kühne L,  Schönermarck U,  Bräsen JH,  von Kaisenberg C,  Beck BB,  Erger F,  Bergmann C,  von Bergwelt-Baildon ANKE,  Brinkkötter PT,  Völker LA,  Menne J. (2024)

Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition. Kidney Int Rep. doi: 10.1016/j.ekir.2024.01.035.

Kühne L,  Knöbl P,  Eller K,  Thaler J,  Sperr WR,  Gleixner K,  Osterholt T,  Kaufeld J,  Menne J,  Buxhofer-Ausch V,  Mühlfeld A,  Seelow E,  Schreiber A,  Todorova P,  Cukoski S,  Jabs WJ,  Özcan F,  Gäckler A,  Schönfelder K,  Seibert FS,  Westhoff T,  Schwenger V,  Eichenauer DA,  Völker LA,  Brinkkoetter PT. (2024)

Management of immune thrombotic thrombocytopenic purpura without therapeutic plasma exchange. Blood. Doi: 10.1182/blood.2023023780.

Mekahli D,  Müller RU,  Marlais M,  Wlodkowski T,  Haeberle S,  de Argumedo ML,  Bergmann C,  Breysem L,  Fladrowski C,  Henske EP,  Janssens P,  Jouret F,  Kingswood JC,  Lattouf JB,  Lilien M,  Maleux G,  Rozenberg M,  Siemer S,  Devuyst O,  Schaefer F,  Kwiatkowski DJ,  Rouvière O,  Bissler J. (2024)

Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group. Nat Rev Nephrol. Doi: 10.1038/s41581-024-00818-0.

Arjune S,  Lettenmeier K,  Todorova P,  Späth MR,  Majjouti M,  Mahabir E,  Grundmann F,  Müller RU. (2024)

Inflammatory Cytokine Levels in Patients with Autosomal Dominant Polycystic Kidney Disease. Kidney360. Doi: 10.34067/KID.0000000000000525.

Kaufeld JK,  Schönermarck U,  Kühne L,  Bräsen JH,  von Kaisenberg C,  Beck BB,  Erger F,  Bergmann C,  von Bergwelt-Baildon A,  Brinkkötter PT,  Menne J,  Völker LA. (2024)

Challenges and Considerations in Managing Thrombotic Microangiopathy and Disseminated Intravascular Coagulation in Postpartum Hemorrhage. Kidney Int Rep. doi: 10.1016/j.ekir.2024.05.021.

Wendt R,  Völker L,  Bommer M,  Wolf M,  von Auer C,  Kühne L,  Brinkkötter P,  Miesbach W,  Knöbl P. (2024)

[100 years thrombotic thrombocytopenic purpura (TTP) - lessons learned?]. Dtsch Med Wochenschr. Doi: 10.1055/a-2360-8725.

Schönfelder K,  Kühne L,  Schulte-Kemna L,  Kaufeld J,  Rohn H,  Kribben A,  Schröppel B,  Brinkkötter PT,  Gäckler A. (2024)

Clinical efficacy and safety of switching from eculizumab to ravulizumab in adult patients with aHUS- real-world data. BMC Nephrol. Doi: 10.1186/s12882-024-03638-3.

Nies JF,  Hendrix C,  Bartram MP,  Spear R,  Hagmann H,  Benzing T,  Kubacki T. (2024)

Effectiveness and safety of immunoadsorption as a rescue treatment of inflammatory myopathies: report of three cases and literature review. Ther Adv Musculoskelet Dis. Doi: 10.1177/1759720X241250238.

Wendt R,  Sobhani A,  Diefenhardt P,  Trappe M,  Völker LA. (2024)

An Updated Comprehensive Review on Diseases Associated with Nephrotic Syndromes. Biomedicines. Doi: 10.3390/biomedicines12102259.

Czogalla J,  Schliffke S,  Lu S,  Schwerk M,  Petereit H,  Zhang T,  Liu S,  Dumoulin B,  Gies S,  Wu G,  Hänzelmann S,  Bode M,  Grahammer F,  Gödel M,  Voigtländer M,  Butt L,  Bokemeyer C,  Bergmann C,  Benzing T,  Wiech T,  Puelles VG,  Huber TB. (2024)

Ibrutinib-associated focal segmental glomerulosclerosis and the impact of podocin mutations in chronic lymphocytic leukemia. Kidney Int. doi: 10.1016/j.kint.2024.02.001.

Schmidt J,  Arjune S,  Boehm V,  Grundmann F,  Müller RU,  Antczak P. (2024)

Bridging health registry data acquisition and real-time data analytics. Front Med (Lausanne). Doi: 10.3389/fmed.2024.1430676.

Bais T,  Meijer E,  Kramers BJ,  Vart P,  Vervloet M,  Salih M,  Bammens B,  Demoulin N,  Todorova P,  Müller RU,  Halbritter J,  Paliege A,  Gall EC,  Knebelmann B,  Torra R,  Ong ACM,  Karet Frankl FE,  Gansevoort RT. (2024)

HYDROchlorothiazide versus placebo to PROTECT polycystic kidney disease patients and improve their quality of life: study protocol and rationale for the HYDRO-PROTECT randomized controlled trial. Trials. Doi: 10.1186/s13063-024-07952-x.

Schönauer R,  Sierks D,  Boerrigter M,  Jawaid T,  Caroff L,  Audrezet MP,  Friedrich A,  Shaw M,  Degenhardt J,  Forberger M,  de Fallois J,  Bläker H,  Bergmann C,  Gödiker J,  Schindler P,  Schlevogt B,  Müller RU,  Berg T,  Patterson I,  Griffiths WJ,  Sayer JA,  Genomics England Research Consortium ,  Popp B,  Torres VE,  Hogan MC,  Somlo S,  Watnick TJ,  Nevens F,  Besse W,  Cornec-Le Gall E,  Harris PC,  Drenth JPH,  Halbritter J. (2024)

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease. Gastroenterology. Doi: 10.1053/j.gastro.2023.12.007.

Gale DP,  Gross O,  Wang F,  Esteban de la Rosa RJ,  Hall M,  Sayer JA,  Appel G,  Hariri A,  Liu S,  Maski M,  Shen Y,  Zhang Q,  Iqbal S,  Kowthalam MU,  Lin J,  Ding J,  HERA Clinical Trial Group. (2024)

A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome. Clin J Am Soc Nephrol. Doi: 10.2215/CJN.0000000000000458.

Geetha D,  Dua A,  Yue H,  Springer J,  Salvarani C,  Jayne D,  Merkel P,  ADVOCATE Study Group. (2024)

Efficacy and safety of avacopan in patients with ANCA-associated vasculitis receiving rituximab in a randomised trial. Ann Rheum Dis. Doi: 10.1136/ard-2023-224816.

Bartram MP,  Beck BB,  Müller RU. (2024)

Genetics in nephrology - any news? Dtsch Med Wochenschr. Doi: 10.1055/a-2198-0363.

Nies JF,  Krusche M. (2024)

Fever in rheumatological diseases. Z Rheumatol. Doi: 10.1007/s00393-024-01505-y.

Martin-Higueras C,  Borghese L,  Torres A,  Fraga-Bilbao F,  Santana-Estupiñán R,  Stefanidis CJ,  Tory K,  Walli A,  Gondra L,  Kempf C,  Gessner M,  Habbig S,  Eifler L,  Schmitt CP,  Rüdel B,  Bartram MP,  Beck BB,  Hoppe B. (2024)

Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1. Kidney Int Rep. Doi: 10.1016/j.ekir.2023.10.004.

Wendt R,  Voelker LA,  Brinkkoetter PT. (2024)

Recombinant ADAMTS13 for Immune Thrombotic Thrombocytopenic Purpura. N Engl J Med.

Malakasioti G, Iancu D, Milovanova A, Tsygin A, Horinouchi T, Nagano C, Nozu K, Kamei K, Fujinaga S, Iijima K, Kang HG, Sinha R, Basu B, Morello W, Montini G, Waters A, Boyer O,          Yıldırım ZY, Yel S, Dursun İ, McCarthy HJ, Vivarelli M, Prikhodina L, Besouw MTP, Chan EY,      Huang W, Kemper MJ, Loos S, Prestidge C, Wong W, Zlatanova G, Ehren R, Weber LT,      Chehade H, Hooman N, Tkaczyk M, Stańczyk M, Miligkos M, Tullus K; CNI in Monogenic                SRNS Study Investigators. (2024)                                                                                               Corrigendum to "A multicenter retrospective study of calcineurin inhibitors in   nephrotic syndrome secondary to podocyte gene variants." Kidney Int. 2023;103:962-    972

          Kidney Int. 2024 Jan;105(1):213-214. doi: 10.1016/j.kint.2023.10.006       

Barbour SJ, Coppo R, Er L, Pillebout E, Russo ML, Alpers CE, Fogo AB, Ferrario F,                Jennette JC, Roberts ISD, Cook HT, Ding J, Su B, Zhong X, Fervenza FC, Zand L, Peruzzi   L, Lucchetti L, Katafuchi R, Shima Y, Yoshikawa N, Ichikawa D, Suzuki Y, Murer L,            Wyatt RJ, Park C, Nelson RD, Narus JH, Wenderfer S, Geetha D, Daugas E, Monteiro        RC, Nakatani S, Mastrangelo A, Nuutinen M, Koskela M, Weber LT, Hackl A, Pohl M,               Pecoraro C, Tsuboi N, Yokoo T, Takafumi I, Fujimoto S, Conti G, Santoro D, Materassi     M, Zhang H, Shi S, Liu ZH, Tesar V, Maixnerova D, Avila-Casado C, Bajema I, Barreca A, Becker JU, Comstock JM, Cornea V, Eldin K, Hernandez LH, Hou J, Joh K, Lin M,                 Messias N, Muda AO, Pagni F, Diomedi-Camassei F, Tokola H, D'Armiento M, Seidl M, Rosenberg A, Sannier A, Soares MF, Wang S, Zeng C, Haas M. (2024)                                    Histologic and Clinical Factors Associated with Kidney Outcomes in IgA Vasculitis          Nephritis

         Clin J Am Soc Nephrol. 2024 Jan 23. doi: 10.2215/CJN.0000000000000398.

 Hoefer KC, Weber LT, Barbe AG, Graf I, Thom S, Nowag A, Scholz CJ, Wisplinghoff H,      Noack MJ, Jazmati N. (2024)    The tongue microbiome of young patients with chronic                kidney disease and their healthy mothers.

           Clin Oral Investig. 2024 Jan 24;28(1):110. doi: 10.1007/s00784-024-05492-x.

                Karaterzi S, Tönshoff B, Ahlenstiel-Grunow T, Baghai M, Beck B, Büscher A, Eifler L,         Giese T, Lezius S, Müller C, Oh J, Zapf A, Weber LT, Pape L. (2024)                                                                      A multi-center interventional study to assess pharmacokinetics, effectiveness, and       tolerability of prolonged-release tacrolimus after pediatric kidney transplantation:               study protocol for a prospective, open-label, randomized, two-phase, two-sequence,    single dose, crossover, phase III b trial

Front Nephrol. 2024 Feb 20;4:1331510. doi: 10.3389/fneph.2024.1331510. eCollection                2024.

Hoefer KC, Barbe AG, Adams A, Schoppmeier C, Wicht MJ, Weber LT, Noack MJ, Graf I   (2024) Halitosis in young patients with chronic kidney disease: findings from a     randomized controlled trial. Head Face Med. 2024 May 15;20(1):32. doi:              10.1186/s13005-024-00428-y                                                                                        

Brügelmann M, Müller S, Bohlen AV, Hohenfellner K, Büscher A, Kemper MJ, Fröde K,    Kanzelmeyer N, Oh J, Billing H, Gellermann J, Müller D, Weber LT, Acham-Roschitz B,    Arbeiter K, Tönshoff B, Hagenberg M, Žebec MS, Haffner D, Zivicnjak M. (2024)  

Morphological changes and their associations with clinical parameters in children           with nephropathic cystinosis and chronic kidney disease prior to kidney replacement               therapy over 25 years.                                                                                                                     Pediatr Nephrol. 2024 Jun 8. doi: 10.1007/s00467-024-06421-6.

Prytula A, Shroff R, van Gremberghe I, Krupka K, Bacchetta J, Benetti E, Grenda R,           Guzzo I, Kanzelmeyer N, Büyükkaragöz B, Kranz B, Nalçacıoğlu H, Oh J, Pape L, Shenoy    M, Sellier-Leclerc AL, Tönshoff B; European Society for Paediatric Nephrology   Transplantation and       CKD-MBD working groups and the Cooperative European                 Paediatric Renal Transplant        Initiative Research Network (2024) Metabolic Acidosis Is              Associated With an Accelerated Decline of Allograft Function in Pediatric Kidney     Transplantation                                                                                                                                                       Kidney Int Rep. 2024 Apr 8;9(6):1684-1693. doi: 10.1016/j.ekir.2024.04.007  (5,7)

Lahring J, Leifheit-Nestler M, Ewert A, Herzig N, Köppl C, Pott V, Oh J, Büscher A,              Thumfart J, Weber LT, Arbeiter K, Acham-Roschitz B, Tönshoff B, Zivicnjak M,    Hohenfellner K, Haffner D. (2024) Cystinosis-associated metabolic bone disease                across ages and CKD stages 1-5D/T

                J Clin Endocrinol Metab. 2024 Jul 25:dgae502. doi: 10.1210/clinem/dgae502.    

 Patry C, Webb NJA, Feißt M, Krupka K, Becker J, Bald M, Antoniello B, Bilge I, Gulhan    B, Hogan J, Kanzelmeyer N, Ozkaya O, Büscher A, Sellier-Leclerc AL, Shenoy M, Weber           LT, Fichtner A, Höcker B, Meier M, Tönshoff B. (2024) Kidney transplantation in             children and adolescents with C3 glomerulopathy or immune complex                 membranoproliferative glomerulonephritis: a real-world study within the CERTAIN         research network

Pediatr Nephrol. 2024 Aug 7. doi: 10.1007/s00467-024-06476-5                

Gross O, Boeckhaus J, Weber LT, Heerspink HJL, Simon JF, Ahmed R, Gerst C, Duerr U,   Walker F, Tostmann R, Helm J, Asendorf T, Friede T. (2024)  Protocol and rationale for a randomized controlled SGLT2 inhibitor trial in pediatric and young adult        populations with chronic kidney disease: DOUBLE PRO-TECT Alport

    Nephrol Dial Transplant. 2024 Aug 9:gfae180. doi: 10.1093/ndt/gfae180

Hoefer KC, Weber LT, Barbe AG, Graf I, Thom S, Ehren R, Nowag A, Wisplinghoff H,         Noack MJ, Scholz CJ, Jazmati N (2024) Intensive oral prophylaxis does not alter the        tongue microbiome in young patients with chronic kidney disease: longitudinal,     randomized, controlled study

Front Immunol. 2024 Aug 19;15:1430655. doi: 10.3389/fimmu.2024.1430655.   

Fichtner A, Gauché L, Süsal C, Tran TH, Waldherr R, Krupka K, Guzzo I, Carraro A, Oh J,   Zirngibl M, Weitz M, König J, Büscher A, Berta L, Simon T, Awan A, Rusai K, Topaloglu               R, Peruzzi L, Printza N, Kim JJ, Weber LT, Melk A, Pape L, Rieger S, Patry C, Höcker B,         Tönshoff B; CERTAIN study group. (2024) Incidence, risk factors, management                 strategies, and outcomes of antibody-mediated rejection in pediatric kidney      transplant recipients-a multicenter analysis of the Cooperative European Paediatric      Renal Transplant Initiative (CERTAIN)

Pediatr Nephrol. 2024 Sep 16. doi: 10.1007/s00467-024-06487-2              

Fichtner A, Schmidt J, Süsal C, Carraro A, Oh J, Zirngibl M, König S, Guzzo I, Weber LT,    Awan A, Krupka K, Schnitzler P, Hirsch HH, Tönshoff B, Höcker B. (2024) Risk of cellular or antibody-mediated rejection in pediatric kidney transplant recipients with BK polyomavirus replication-an international CERTAIN registry study

Pediatr Nephrol. 2024 Oct 11. doi: 10.1007/s00467-024-06501-7              

Höfer KC, Witte H, Graf I, Golka A, Adams A, Barbe AG, Weber LT, Noack MJ (2024)

Gingivitis Control in Children, Adolescents and Young Adults With Chronic Kidney            Disease by a Need-Related Programme: A Randomised Clinical Trial.

International Journal of Dental Hygiene, 2024; 0:1–12                                                  

Baghai Arassi M, Feißt M, Krupka K, Awan A, Benetti E, Düzova A, Guzzo I, Kim JJ, Kranz B,           Litwin M, Oh J, Büscher A, Pape L, Peruzzi L, Shenoy M, Testa S, Weber LT, Zieg J, Höcker              B, Fichtner A, Tönshoff B; Cooperative European Pediatric Renal Transplant Initiative        Research Network (2024)                                                                                                           Age-Related Differences in Rejection Rates, Infections, and Tacrolimus Exposure in   Pediatric Kidney Transplant Recipients in the CERTAIN Registry

Kidney Int Rep. 2024 Sep 2;9(11):3265-3277. doi: 10.1016/j.ekir.2024.08.025     

Nüsken E, Voggel J, Saschin L, Weber LT, Dötsch J, Alcazar MAA, Nüsken KD. (2024)         Kidney lipid metabolism: impact on pediatric kidney diseases and modulation by                early-life nutrition.

Pediatr Nephrol. 2024 Nov 27. doi: 10.1007/s00467-024-06595-z.                                           

Ivanov D, Weber LT, Levtchenko E, Vakulenko L, Ivanova M, Zavalna I, Lagodych Y,           Boiko N. (2024) Rituximab Administration to Treat Nephrotic Syndrome in Children:             2-Year Follow-Up

Biomedicines. 2024 Nov 13;12(11):2600. doi: 10.3390/biomedicines12112600. 

Weber LT, Habbig S, Hackl A (2024)                                                                                          Difficult-to-Treat Nephrotic Syndrome in Childhood– Global Depletion of B-Cells. Kidney Int Rep 9(7):1969–1971                                                                                     

Gross O, Weber LT (2024)                                                                                                     Neuigkeiten bei der Behandlung von Glomerulopathien im Kindes- und Jugendalter. DGfN-Heft 3, 24-30

Kohl S, Weber EC, Habbig S, Kribs A, Weber LT (2024)                                                                Frühes versikoamniales Shunting bei subvesikaler Obstruktion.                                     Monatsschr Kinderhlkd, 171:979-987                

Benz MR, Weber LT (2024) Glomeruläre Erkrankungen                                                                                                                      In: Therapie der Krankheiten im Kindes- und Jugendalter; Zimmer KP, de Lafollie J, Weber S, Reinshagen K (Hrsg.), Springer Verlag

Beetz R, Weber LT (2024). Harnwegsinfektionen. In: Therapie der Krankheiten im Kindes- und Jugendalter; Zimmer KP, de Lafollie J, Weber S, Reinshagen K (Hrsg.), Springer Verlag

Gross O, Haffner D, Schaefer F, Weber LT. (2024)                                                                                                                           SGLT2 inhibitors: approved for adults and cats but not for children with CKD.                                    Nephrol Dial Transplant. 2024 Feb 2:gfae029. doi: 10.1093/ndt/gfae029.          

Weber LT (2024)                                                                                                                                                     Neue Rubrik „Gesehen – erkannt“.                                                                                                            Monatschr Kinderhlkd 172 (10): 853 

Zentrum für Ungeklärte Syndromale Erkrankungen des Kindesalters

Schmidt J, Kaulfuß S, Ott H, Gaubert M, Reintjes N, Bremmer F, Dreha-Kulaczewski S, Stroebel P, Yigit G, Wollnik B. Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes. Hum Genet. 2024;143(2):159-168.

Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D. Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals. Hum Genet. 2024;143(1):71-84.

Nosrati MSS, Doustmohammadi A, Severino M, Romano F, Zafari M, Nemati AH, Velmans C, Netzer C, Breuer J, Broekaert IJ, Joachim A, Almasri N, Kruer MC, Skidmore P, Bisarad P, Hoque J, Bakhtiari S, Torella A, Nigro V, Buffelli F, Fulcheri E, Müller A, Zara F, Capra V, Scala M. Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects. Clin Genet. 2024.

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