Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Friederike Wilbert"'
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background Childhood hypoglycemia in combination with hepatomegaly is suspicious for inborn errors of metabolism. Cystic fibrosis typically presents with failure to thrive, pulmonary and gastrointestinal symptoms. Hepatic involvement and hyp
Externí odkaz:
https://doaj.org/article/e166851ee18e47a5867cc94d8a99b26a
Autor:
Anja Brinckmann, Claudia Weiss, Friederike Wilbert, Arpad von Moers, Angelika Zwirner, Gisela Stoltenburg-Didinger, Ekkehard Wilichowski, Markus Schuelke
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e13513 (2010)
Human patients with myoclonic epilepsy with ragged-red fibers (MERRF) suffer from regionalized pathology caused by a mutation in the mitochondrial DNA (m.8344A→G). In MERRF-syndrome brain and skeletal muscles are predominantly affected, despite mtD
Externí odkaz:
https://doaj.org/article/51d329bc1dd844f78f6fd4c0d1b6552f
Publikováno v:
Pädiatrie. 35:27-29
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::efd0df41aac6182fe2bab5bfe1a1f60a
https://doi.org/10.1007/s15014-022-4798-2
https://doi.org/10.1007/s15014-022-4798-2
Publikováno v:
Zeitschrift für Epileptologie. 34:187-190
Wir berichten uber den Fall eines Jungen mit Glut1-Defizienz-Syndrom (Glut1DS), bei dem die Diagnosestellung erst 8 Jahre nach Auftreten der ersten Symptome erfolgte. Bereits im Kleinkindalter traten Episoden mit Ataxie auf, die sich nach Nahrungsauf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06c9ec369d4dacbc30e2871d119f6b04
https://doi.org/10.1007/s10309-021-00397-1
https://doi.org/10.1007/s10309-021-00397-1
Autor:
Michael Zech, Robert Kopajtich, Katja Steinbrücker, Céline Bris, Naig Gueguen, René G. Feichtinger, Melanie T. Achleitner, Neslihan Duzkale, Maximilien Périvier, Johannes Koch, Harald Engelhardt, Peter Freisinger, Matias Wagner, Theresa Brunet, Riccardo Berutti, Dmitrii Smirnov, Tharsini Navaratnarajah, Richard J.T. Rodenburg, Lynn S Pais, Christina Austin‐Tse, Melanie O'Leary, Sylvia Boesch, Robert Jech, Somayeh Bakhtiari, Sheng Chih Jin, Friederike Wilbert, Michael C Kruer, Saskia B. Wortmann, Matthias Eckenweiler, Johannes A. Mayr, Felix Distelmaier, Robert Steinfeld, Juliane Winkelmann, Holger Prokisch
Publikováno v:
Annals of Neurology, 91, 225-237
Ann Neurol
Annals of Neurology, 91, 2, pp. 225-237
Ann Neurol
Annals of Neurology, 91, 2, pp. 225-237
Contains fulltext : 248231.pdf (Publisher’s version ) (Open Access) OBJECTIVE: ATP synthase (ATPase) is responsible for the majority of ATP production. Nevertheless, disease phenotypes associated with mutations in ATPase subunits are extremely rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf58a23e912f8d39b851e9a8f62fa265
https://doi.org/10.1002/ana.26293
https://doi.org/10.1002/ana.26293
Autor:
Xinjian Wang, Matthias Eckenweiler, Peter Hedera, Michael Zech, Juliane Winkelmann, Donald L. Gilbert, Derek E. Neilson, Shelli M. Homan, Jesse Slone, Nancy D. Leslie, Brian Gebelein, Lisa M. Gutzwiller, Jianfeng Xiao, Taosheng Huang, Robert B. Hufnagel, Elizabeth J. Leslie, Mark S. LeDoux, Friederike Wilbert
Publikováno v:
Mov Disord
BACKGROUND In a large pedigree with an unusual phenotype of spastic paraplegia or dystonia and autosomal dominant inheritance, linkage analysis previously mapped the disease to chromosome 2q24-2q31. OBJECTIVE The aim of this study is to identify the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c945930024c6953a2c0aaf6f5bc6f26f
https://pubmed.ncbi.nlm.nih.gov/34636445
https://pubmed.ncbi.nlm.nih.gov/34636445
Autor:
Ján Necpál, Susanne A. Schneider, Martin Krenn, Alice Kuster, Wibke G. Janzarik, Sylvia Boesch, Olga Ulmanová, Joaquim Ribeiro Ventosa, Riccardo Berutti, Steffen Berweck, Matej Skorvanek, Vladimír Haň, Matias Wagner, Miriam Ostrozovičová, Jana Švantnerová, Juliane Winkelmann, Bernhard Haslinger, Petra Havránková, Tereza Serranová, Ariane Sadr-Nabavi, Friederike Wilbert, Mohammad Shariati, Kristina Kulcsarova, Irena Rektorová, Felix Distelmaier, Konrad Oexle, Ali Shoeibi, Robert Jech, Michael Zech, Matthias Eckenweiler, Karel Bechyně, Theresa Brunet, Matthias Baumann, Alexandra Mosejova, Volker Mall, Iva Příhodová, David R. Weise, Jana Šarláková
Publikováno v:
Mov. Disord. 36, 959-1964 (2021)
Background Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. Objectives We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnost
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2e2e8e17774a6d73e9bbc1f2690da05
https://pubmed.ncbi.nlm.nih.gov/33949708
https://pubmed.ncbi.nlm.nih.gov/33949708
Autor:
Gonzalo Alonso Ramos-Rivera, Julia Vera, Holger Prokisch, Sebastian Schröder, Michal Minár, Hartmut Engels, Thomas Herberhold, Jessica Becker, Robert Jech, Anna Szuto, Angela Jochim, Theresa Brunet, Tobias Meindl, V. Kraus, Ivan Milenkovic, Alexandra Sitzberger, Jana Švantnerová, Birgit Assmann, Evžen Růžička, Felix Distelmaier, Chen Zhao, Martin Krenn, Stephan Grunwald, Renzo Guerrini, Christine Makowski, Alice Kuster, Yasemin Dincer, Pedro Gonzalez-Alegre, Petra Havránková, Bader Alhaddad, Zuzana Gdovinova, Tobias Bock-Bierbaum, Annette Hackenberg, Friederike Wilbert, Esther M. Maier, Katrin Õunap, Francisca Millan Zamora, David Weise, Birgit Leineweber, Vladimír Haň, Matias Wagner, Roberto Colombo, Marc E. Wolf, Tim M. Strom, Laura Pölsler, Veronika Pilshofer, Tanya Bardakjian, Steffi Patzer, Oliver Daumke, Ingo Borggraefe, Korbinian M. Riedhammer, Richard E. Person, Ulrich A. Schatz, Michaela Bonfert, Jan Roth, Monica H. Wojcik, Riccardo Berutti, Wendy K. Chung, Robert Steinfeld, Kirsten Cremer, Sylvia Boesch, Steffen Berweck, Ján Necpál, Berthold Langguth, Matej Skorvanek, Mónica Troncoso, Fang Fang, Laurie J. Ozelius, Dominik S. Westphal, Bernhard Haslinger, Rafał Płoski, Jens Volkmann, Konrad Oexle, Thomas Musacchio, Martin Hecht, Aida Telegrafi, Matthias Eckenweiler, Edda Haberlandt, Arcangela Iuso, Volker Mall, Michael Zech, Christian Staufner, Thomas Opladen, Sander Pajusalu, Lindsay B. Henderson, Thomas Sycha, Karel Bechyně, Petra Pavelekova, David A. Dyment, Iva Příhodová, Katharina Vill, Annalisa Vetro, Tobias Mantel, Malgorzata Stoklosa, Miriam Adamovičová, Anna Fečíková, Fritz Zimprich, Pavlína Danhofer, Juliane Winkelmann, Franco Laccone, Elisabeth Graf, Sandrina Weber, Timo Roser, Saskia B. Wortmann, Astrid Blaschek, Ronald D. Cohn, Olga Ulmanová, Andres O. Ceballos-Baumann, Matthias Baumann, Branislav Veselý, Barbara Plecko
Publikováno v:
Lancet Neurol. 19, 908-918 (2020)
Summary Background Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes (isol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd264ee4880c0208b07e191ccabdb9c0
https://pubmed.ncbi.nlm.nih.gov/33284469
https://pubmed.ncbi.nlm.nih.gov/33284469