Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Michael Freilinger"'
Autor:
Jolanda Steininger, Raphael Rossmanith, Christoph B. Geier, Alexander Leiss-Piller, Lukas Thonhauser, Simone Weiss, Johannes A. Hainfellner, Michael Freilinger, Wolfgang M. Schmidt, Martha M. Eibl, Hermann M. Wolf
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
X-linked lymphoproliferative disease (XLP1) is a combined immunodeficiency characterized by severe immune dysregulation caused by mutations in the SH2D1A/SAP gene. Loss or dysfunction of SH2D1A is associated with the inability in clearing Epstein-Bar
Externí odkaz:
https://doaj.org/article/2eebc92408de435f91bba4bf07cc47a5
Autor:
Amanda Jefferson, Helen Leonard, Aris Siafarikas, Helen Woodhead, Sue Fyfe, Leanne M Ward, Craig Munns, Kathleen Motil, Daniel Tarquinio, Jay R Shapiro, Torkel Brismar, Bruria Ben-Zeev, Anne-Marie Bisgaard, Giangennaro Coppola, Carolyn Ellaway, Michael Freilinger, Suzanne Geerts, Peter Humphreys, Mary Jones, Jane Lane, Gunilla Larsson, Meir Lotan, Alan Percy, Mercedes Pineda, Steven Skinner, Birgit Syhler, Sue Thompson, Batia Weiss, Ingegerd Witt Engerström, Jenny Downs
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0146824 (2016)
OBJECTIVES:We developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians. METHODS:An initial guidelines draft was created which included statements based
Externí odkaz:
https://doaj.org/article/536bc8aa54354e409094505397797b8f
Autor:
Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L Silhavy, Rasim O Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S Zaki, Kathryn J Swoboda, Joanne Milisa-Drautz, William B Dobyns, Mohamed A Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose-Mary Boustany, Carol L Clericuzio, Stefano D'Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A Johnson, Michael Freilinger, Keith K Vaux, Stacey B Gabriel, Pedro Aza-Blanc, Susanne Heynen-Genel, Trey Ideker, Brian D Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G Gleeson
Publikováno v:
eLife, Vol 4 (2015)
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to i
Externí odkaz:
https://doaj.org/article/c3d923b71f264930947bb9ecf4abf7f9
Autor:
Yonatan Ganor, Hadassa Goldberg-Stern, Dina Amrom, Tally Lerman-Sagie, Vivian I. Teichberg, Dori Pelled, Anthony H. Futerman, Bruria Ben Zeev, Michael Freilinger, Denis Verheulpen, Patrick Van Bogaert, Mia Levite
Publikováno v:
Clinical and Developmental Immunology, Vol 11, Iss 3-4, Pp 241-252 (2004)
Purpose: Elucidating the potential contribution of specific autoantibodies (Ab's) to the etiology and/or pathology of some human epilepsies. Methods: Six epilepsy patients with Rasmussen's encephalitis (RE) and 71 patients with other epilepsies we
Externí odkaz:
https://doaj.org/article/a1a0b92e91d64c2386b1e8c47398e41c
Autor:
Martin Krenn, Merve Sener, Jakob Rath, Gudrun Zulehner, Omar Keritam, Matias Wagner, Franco Laccone, Stephan Iglseder, Sonja Marte, Manuela Baumgartner, Astrid Eisenkölbl, Christian Liechtenstein, Sabine Rudnik, Stefan Quasthoff, Susanne Grinzinger, Johannes Spenger, Saskia B. Wortmann, Wolfgang N. Löscher, Fritz Zimprich, Anna Kellersmann, Mika Rappold, Günther Bernert, Michael Freilinger, Hakan Cetin
Publikováno v:
Journal of Neurology, 270, 909-916
Journal of Neurology, 270, 2, pp. 909-916
J. Neurol. 270, 909-916 (2023)
Journal of Neurology, 270, 2, pp. 909-916
J. Neurol. 270, 909-916 (2023)
Background Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed, and syste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eac79402f45ed8b0df3052f7e5df38b
http://hdl.handle.net/2066/291312
http://hdl.handle.net/2066/291312
Publikováno v:
Movement Disorders. 37:1774-1776
Autor:
Dajie Zhang, Sigrun Lang, Bernd Wilken, Christa Einspieler, Jeffrey L. Neul, Sven Bölte, Daniel Holzinger, Michael Freilinger, Luise Poustka, Jeff Sigafoos, Peter B. Marschik
Publikováno v:
Research in Developmental Disabilities. 138:104515
BackgroundInfants with Rett syndrome (RTT) may have subtle anomalies in their prelinguistic vocalisations but the detection of these is difficult, since their conspicuous vocalisations are often interspersed with inconspicuous ones.Aims and methodsEx
Autor:
Michael Freilinger, Diana-Alexandra Ertl, Adalbert Raimann, Maria T. Schmook, Christine Haberler, Barbara Plecko, Gabriele Haeusler, Kambis Sadeghi, Janina M. Patsch, Susanna Lang
Publikováno v:
Hormone Research in Paediatrics. 94:390-398
Hypophosphatasia (HPP) is an inborn error of metabolism caused by loss-of-function mutations in the biomineralization-associated alkaline phosphatase gene, encoding tissue-nonspecific alkaline phosphatase (TNSALP). Symptoms include skeletal hypominer
Autor:
Eva Maria Wendel, Helen Sophie Thonke, Annikki Bertolini, Matthias Baumann, Astrid Blaschek, Andreas Merkenschlager, Michael Karenfort, Barbara Kornek, Christian Lechner, Daniela Pohl, Martin Pritsch, Kathrin Schanda, Mareike Schimmel, Charlotte Thiels, Stephan Waltz, Gert Wiegand, Banu Anlar, Nina Barisic, Christian Blank, Markus Breu, Philip Broser, Adela Della Marina, Katharina Diepold, Matthias Eckenweiler, Astrid Eisenkölbl, Michael Freilinger, Ursula Gruber-Sedlmayr, Annette Hackenberg, Tobias Iff, Ellen Knierim, Johannes Koch, Georg Kutschke, Steffen Leiz, Grischa Lischetzki, Margherita Nosadini, Alexander Pschibul, Edith Reiter-Fink, Doris Rohrbach, Michela Salandin, Stefano Sartori, Jan-Ulrich Schlump, Johannes Stoffels, Jurgis Strautmanis, Daniel Tibussek, Victoria Tüngler, Norbert Utzig, Markus Reindl, Kevin Rostásy
Background and ObjectiveThe spectrum of myelin oligodendrocyte glycoprotein (MOG) antibody–associated disorder (MOGAD) comprises monophasic diseases such as acute disseminated encephalomyelitis (ADEM), optic neuritis (ON), and transverse myelitis a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::739badd39828cef45bb1bd3d033db133
https://www.ncbi.nlm.nih.gov/pubmed/36229191
https://www.ncbi.nlm.nih.gov/pubmed/36229191
Autor:
Reginald E. Bittner, Sonja Gobara, Wolfgang M. Schmidt, Sandy Siegert, Michael Freilinger, Thomas Pletschko
Publikováno v:
Neuropediatrics. 52(5)
Background Recent research suggested an hippocalcin (HPCA)-related form of DYT2-like autosomal recessive dystonia. Two reports highlight a broad spectrum of the clinical phenotype. Here, we describe a novel HPCA gene variant in a pediatric patient an