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4. Autorenverzeichnis

Author

Aktas, Orhan, primary, Alvermann, Sascha, additional, Brück, Wolfgang, additional, Faiss, Jürgen, additional, Fitzner, Brit, additional, Flachenecker, Peter, additional, Gärtner, Jutta, additional, Gerken, Jeanine, additional, Haas, Judith, additional, Haase, Rocco, additional, Hardt, Cornelia, additional, Haupts, Michael, additional, Hecker, Michael, additional, Hoffmann, Frank A., additional, Hoppenworth, Uwe, additional, Huppke, Peter, additional, Köhler, Wolfgang, additional, Krumbholz, Markus, additional, Kunkel, Annett, additional, Laurent, Sarah, additional, Linke, Ernst, additional, Löbermann, Micha, additional, Martin, Roland, additional, Meinl, Edgar, additional, Pöhlau, Dieter, additional, Reinshagen, Alexander, additional, Rieckmann, Peter, additional, Rommer, Paulus S., additional, Schifferdecker, Michael, additional, Schipper, Sabine, additional, Schippling, Sven, additional, Schmidt, Rudolf M., additional, Sinnecker, Tim, additional, Sokol, Christina, additional, Stadelmann-Nessler, Christine, additional, Stangel, Martin, additional, Temmes, Herbert, additional, Tumani, Hayrettin, additional, van der Meer, Franziska, additional, Voigt, Isabel, additional, Warnke, Clemens, additional, Winkelmann, Alexander, additional, Zettl, Uwe K., additional, Ziemssen, Tjalf, additional, Zimmermann, Klaus, additional, and Zipp, Frauke, additional

Published
2022
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6. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

Author

Husain, Ralf A, primary, Jiao, Xinfu, additional, Hennings, J Christopher, additional, Giesecke, Jan, additional, Palsule, Geeta, additional, Beck-Wödl, Stefanie, additional, Osmanović, Dina, additional, Bjørgo, Kathrine, additional, Mir, Asif, additional, Ilyas, Muhammad, additional, Abbasi, Saad M, additional, Efthymiou, Stephanie, additional, Dominik, Natalia, additional, Maroofian, Reza, additional, Houlden, Henry, additional, Rankin, Julia, additional, Pagnamenta, Alistair T, additional, Nashabat, Marwan, additional, Altwaijri, Waleed, additional, Alfadhel, Majid, additional, Umair, Muhammad, additional, Khouj, Ebtissal, additional, Reardon, William, additional, El-Hattab, Ayman W, additional, Mekki, Mohammed, additional, Houge, Gunnar, additional, Beetz, Christian, additional, Bauer, Peter, additional, Putoux, Audrey, additional, Lesca, Gaetan, additional, Sanlaville, Damien, additional, Alkuraya, Fowzan S, additional, Taylor, Robert W, additional, Mentzel, Hans-Joachim, additional, Hübner, Christian A, additional, Huppke, Peter, additional, Hart, Ronald P, additional, Haack, Tobias B, additional, Kiledjian, Megerditch, additional, and Rubio, Ignacio, additional

Published
2023
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7. Corrigendum: Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.

Author

Wang, Jieqi, Wegener, Jan Eike, Huang, Teng-Wei, Sripathy, Smitha, De Jesus-Cortes, Hector, Xu, Pin, Tran, Stephanie, Knobbe, Whitney, Leko, Vid, Britt, Jeremiah, Starwalt, Ruth, McDaniel, Latisha, Ward, Chris S, Parra, Diana, Newcomb, Benjamin, Lao, Uyen, Nourigat, Cynthia, Flowers, David A, Cullen, Sean, Jorstad, Nikolas L, Yang, Yue, Glaskova, Lena, Vigneau, Sébastien, Kozlitina, Julia, Yetman, Michael J, Jankowsky, Joanna L, Reichardt, Sybille D, Reichardt, Holger M, Gärtner, Jutta, Bartolomei, Marisa S, Fang, Min, Loeb, Keith, Keene, C Dirk, Bernstein, Irwin, Goodell, Margaret, Brat, Daniel J, Huppke, Peter, Neul, Jeffrey L, Bedalov, Antonio, and Pieper, Andrew A

Subjects
General Science & Technology
Published
2015

8. Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.

Author

Wang, Jieqi, Wegener, Jan Eike, Huang, Teng-Wei, Sripathy, Smitha, De Jesus-Cortes, Hector, Xu, Pin, Tran, Stephanie, Knobbe, Whitney, Leko, Vid, Britt, Jeremiah, Starwalt, Ruth, McDaniel, Latisha, Ward, Chris S, Parra, Diana, Newcomb, Benjamin, Lao, Uyen, Nourigat, Cynthia, Flowers, David A, Cullen, Sean, Jorstad, Nikolas L, Yang, Yue, Glaskova, Lena, Vingeau, Sébastien, Kozlitina, Julia, Yetman, Michael J, Jankowsky, Joanna L, Reichardt, Sybille D, Reichardt, Holger M, Gärtner, Jutta, Bartolomei, Marisa S, Fang, Min, Loeb, Keith, Keene, C Dirk, Bernstein, Irwin, Goodell, Margaret, Brat, Daniel J, Huppke, Peter, Neul, Jeffrey L, Bedalov, Antonio, and Pieper, Andrew A

Subjects
Microglia, Animals, Rett Syndrome, Disease Progression, Female, Male, Methyl-CpG-Binding Protein 2, General Science & Technology
Published
2015

20. De novoAHDC1Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome

Author

Bertrand, Miriam, Shah, Gulalai, Pedersen, Brent S., Schulz, Alexander, Weise, Anja, Liehr, Thomas, Huppke, Peter, DiTroia, Stephanie, Quinlan, Aaron R., Haack, Tobias B., and Husain, Ralf A.

Abstract

Introduction:Xia-Gibbs syndrome (XGS) is a rare syndromic disorder characterized by developmental delay with intellectual disability, muscular hypotonia, brain anomalies, and nonspecific dysmorphic features. Different heterozygous variants in AHDC1have been reported as causal for XGS, comprising mainly de novostop-gain and frameshift events, but also missense variants, deletions, and a duplication of the locus. Case Presentation:We hereby report 2 patients with clinical features of XGS. In the first patient, a de novointerstitial deletion in 1p36.11p35.3 encompassing the entire coding region of AHDC1was initially suspected by trio exome sequencing and subsequently confirmed by shallow genome sequencing. In the second patient, a de novodeletion comprising most of the 5′ untranslated region of AHDC1was detected by genome sequencing. Conclusion:We identified the smallest deletion comprising AHDC1reported so far by shallow genome sequencing as well as another small AHDC1deletion by genome sequencing. These methods represent useful techniques for the identification and confirmation of small deletions and structural variants. Furthermore, our data provide additional evidence of AHDC1haploinsufficiency as a disease mechanism in XGS. Clinically, foot deformity, skin and connective tissue abnormalities observed in one of the patients are consistent with other reported cases of XGS. These findings suggest that these manifestations could be considered as more prevalent characteristics, underscoring the importance of in-depth phenotyping. The neurodevelopmental disorder Xia-Gibbs syndrome is associated with symptoms of various organ systems. It is due to changes in the AHDC1gene. Using sophisticated genetic testing procedures, two different deletions as a particularly rare genetic cause were identified in 2 patients. Here, we provide a summary of their individual characteristics in comparison to those of other patients with similar deletions that have been reported in the literature or public databases.

Published
2024
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23. Autorenverzeichnis

Author

Aktas, Orhan, primary, Alvermann, Sascha, additional, Block, Anja, additional, Brück, Wolfgang, additional, Faiss, Jürgen, additional, Fitzner, Brit, additional, Flachenecker, Peter, additional, Gärtner, Jutta, additional, Gerken, Jeanine, additional, Haas, Judith, additional, Hardt, Cornelia, additional, Haupts, Michael, additional, Hecker, Michael, additional, Hoffmann, Frank A., additional, Hoppenworth, Uwe, additional, Huppke, Peter, additional, Kern, Raimar, additional, Köhler, Wolfgang, additional, Krumbholz, Markus, additional, Kunkel, Annett, additional, Linke, Ernst, additional, Martin, Roland, additional, Meinl, Edgar, additional, Pöhlau, Dieter, additional, Reinshagen, Alexander, additional, Rieckmann, Peter, additional, Sailer, Michael, additional, Schifferdecker, Michael, additional, Schipper, Sabine, additional, Schippling, Sven, additional, Schmidt, Rudolf, additional, Schmitt, Hendrik, additional, Sokol, Christina, additional, Stadelmann-Nessler, Christine, additional, Stangel, Martin, additional, Tumani, Hayrettin, additional, Zettl, Uwe K., additional, Ziemssen, Tjalf, additional, Zimmermann, Klaus, additional, Zipp, Frauke, additional, and Littig, Eva, additional

Published
2018
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24. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

Author

Pechmann, Astrid, Behrens, Max, Dörnbrack, Katharina, Tassoni, Adrian, Wenzel, Franziska, Stein, Sabine, Vogt, Sibylle, Zöller, Daniela, Bernert, Günther, Hagenacker, Tim, Schara-Schmidt, Ulrike, Walter, Maggie C., Bertsche, Astrid, Vill, Katharina, Baumann, Matthias, Baumgartner, Manuela, Cordts, Isabell, Eisenkölbl, Astrid, Flotats-Bastardas, Marina, Friese, Johannes, Günther, René, Hahn, Andreas, Horber, Veronka, Husain, Ralf A., Illsinger, Sabine, Jahnel, Jörg, Johannsen, Jessika, Köhler, Cornelia, Kölbel, Heike, Müller, Monika, von Moers, Arpad, Schwerin-Nagel, Annette, Reihle, Christof, Schlachter, Kurt, Schreiber, Gudrun, Schwartz, Oliver, Smitka, Martin, Steiner, Elisabeth, Trollmann, Regina, Weiler, Markus, Weiß, Claudia, Wiegand, Gert, Wilichowski, Ekkehard, Ziegler, Andreas, Lochmüller, Hanns, Kirschner, Janbernd, Ameshofer, Lisa, Andres, Barbara, Angelova-Toshkina, Daniela, Banholzer, Daniela, Bant, Christina, Baum, Petra, Baumann, Sandra, Baur, Ute, Becker, Benedikt, Behring, Bettina, Bellut, Julia, Bevot, Andrea, Bischofberger, Jasmin, Bitzan, Lisa, Bjelica, Bogdan, Blankenburg, Markus, Böger, Sandra, Bonetti, Friederike, Bongartz, Anke, Brakemeier, Svenja, Bratka, Lisa, Braun, Nathalie, Braun, Sarah, Brauner, Brigitte, Bretschneider, Christa, Burgenmeister, Nadine, Burke, Bea, Cirak, Sebahattin, Dall, Andrea, de Vries, Heike, Marina, Adela Della, Denecke, Jonas, Deschauer, Marcus, Dibrani, Zylfie, Diebold, Uta, Dondit, Lutz, Drebes, Jessica, Driemeyer, Joenna, Dukic, Vladimir, Eckenweiler, Matthias, Eminger, Mirjam, Fischer, Michal, Fischer, Cornelia, Freigang, Maren, Gaiser, Philippa, Gangfuß, Andrea, Geitmann, Stephanie, George, Annette, Gosk-Tomek, Magdalena, Grinzinger, Susanne, Gröning, Kristina, Groß, Martin, Güttsches, Anne-Katrin, Hagenmeyer, Anna, Hartmann, Hans, Haverkamp, Julia, Hiebeler, Miriam, Hoevel, Annegret, Hoffmann, Georg Friedrich, Holtkamp, Britta, Holzwarth, Dorothea, Homma, Annette, Horneff, Viola, Hörnig, Carolin, Hotter, Anna, Hubert, Andrea, Huppke, Peter, Jansen, Eva, Jung, Lisa, Kaiser, Nadja, Kappel, Stefan, Katharina, Bolte, Koch, Johannes, Kölke, Stefan, Korschinsky, Brigitte, Kostede, Franziska, Krause, Karsten, Küpper, Hanna, Lang, Annina, Lange, Irene, Langer, Thorsten, Lechner, Yvonne, Lehmann, Helmar, Leypold, Christine, Lingor, Paul, Lipka, Jaqueline, Löscher, Wolfgang, Luiking, Antje, Machetanz, Gerrit, Malm, Eva, Martakis, Kyriakos, Menzen, Bettina, Metelmann, Moritz, Meyer zu Hörste, Gerd, Montagnese, Federica, Mörtlbauer, Kathrin, Müller, Petra, Müller, Anne, Müller, Anja, Müschen, Lars, Neuwirth, Christoph, Niesert, Moritz, Pauschek, Josefine, Pernegger, Elke, Petri, Susanne, Pilshofer, Veronika, Plecko, Barbara, Pollok, Jürgen, Preisel, Martin, Pühringer, Manuel, Quinten, Anna Lisa, Raffler, Sabine, Ramadan, Barbara, Rappold, Mika, Rauscher, Christian, Reckmann, Kerstin, Reinhardt, Tabea, Röder, Melanie, Roland-Schäfer, Doris, Roth, Erdmute, Ruß, Lena, Saffari, Afshin, Schimmel, Mareike, Schlag, Melina, Schlotter-Weigel, Beate, Schneider, Joanna, Schöne-Bake, Jan-Christoph, Schorling, David, Schreiner, Isabella, Schüssler, Stephanie, Schwarzbach, Michaela, Schwippert, Michaela, Semmler, Luisa, Smuda, Karin, Sprenger-Svacina, Alina, Stadler, Theresa, Steffens, Paula, Steuernagel, Daniela, Stolte, Benjamin, Stoltenburg, Corinna, Tasch, Gehrke, Thimm, Andreas, Tiefenthaler, Elke, Topakian, Raffi, Türk, Matthias, van der Stam, Lieske, Vettori, Katia, Vollmann, Peter, Vorgerd, Matthias, Weiss, Deike, Wenninger, Stephan, Werring, Svea, Wessel, Maria, Weyen, Ute, Wider, Sabine, Wiebe, Nils Ole, Wiesenhofer, Anna, Wiethoff, Sarah, Wirner, Corinna, Wohnrade, Camilla, Wunderlich, Gilbert, Zeller, Daniel, Zemlin, Michael, and Zobel, Joachim

Subjects
Medizin, Pharmacology (medical), General Medicine, ddc:610, Genetics (clinical)
Abstract

Background The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the treatment of SMA patients irrespective of age and disease severity. Most data on therapeutic efficacy are available for the infantile-onset SMA. For patients with SMA type 2 and type 3, there is still a lack of sufficient evidence and long-term experience for nusinersen treatment. Here, we report data from the SMArtCARE registry of non-ambulant children with SMA type 2 and typen 3 under nusinersen treatment with a follow-up period of up to 38 months. Methods SMArtCARE is a disease-specific registry with data on patients with SMA irrespective of age, treatment regime or disease severity. Data are collected during routine patient visits as real-world outcome data. This analysis included all non-ambulant patients with SMA type 2 or 3 below 18 years of age before initiation of treatment. Primary outcomes were changes in motor function evaluated with the Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM). Results Data from 256 non-ambulant, pediatric patients with SMA were included in the data analysis. Improvements in motor function were more prominent in upper limb: 32.4% of patients experienced clinically meaningful improvements in RULM and 24.6% in HFMSE. 8.6% of patients gained a new motor milestone, whereas no motor milestones were lost. Only 4.3% of patients showed a clinically meaningful worsening in HFMSE and 1.2% in RULM score. Conclusion Our results demonstrate clinically meaningful improvements or stabilization of disease progression in non-ambulant, pediatric patients with SMA under nusinersen treatment. Changes were most evident in upper limb function and were observed continuously over the follow-up period. Our data confirm clinical trial data, while providing longer follow-up, an increased number of treated patients, and a wider range of age and disease severity.

Published
2022

27. Mutations inTAF8cause a neurodegenerative disorder

Author

Wong, Keit Men, primary, Jepsen, Wayne M, additional, Efthymiou, Stephanie, additional, Salpietro, Vincenzo, additional, Sanchez-Castillo, Meredith, additional, Yip, Janice, additional, Kriouile, Yamna, additional, Diegmann, Susann, additional, Dreha-Kulaczewski, Steffi, additional, Altmüller, Janine, additional, Thiele, Holger, additional, Nürnberg, Peter, additional, Toosi, Mehran Beiraghi, additional, Akhondian, Javad, additional, Ghayoor Karimiani, Ehsan, additional, Hummel-Abmeier, Hannah, additional, Huppke, Brenda, additional, Houlden, Henry, additional, Gärtner, Jutta, additional, Maroofian, Reza, additional, and Huppke, Peter, additional

Published
2022
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28. Mutations in TAF8 cause a neurodegenerative disorder

Author

Wong, Keit Men, Jepsen, Wayne M., Efthymiou, Stephanie, Salpietro, Vincenzo, Sanchez-Castillo, Meredith, Yip, Janice, Kriouile, Yamna, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Altmuller, Janine, Thiele, Holger, Nurnberg, Peter, Toosi, Mehran Beiraghi, Akhondian, Javad, Karimiani, Ehsan Ghayoor, Hummel-Abmeier, Hannah, Huppke, Brenda, Houlden, Henry, Gartner, Jutta, Maroofian, Reza, Huppke, Peter, Wong, Keit Men, Jepsen, Wayne M., Efthymiou, Stephanie, Salpietro, Vincenzo, Sanchez-Castillo, Meredith, Yip, Janice, Kriouile, Yamna, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Altmuller, Janine, Thiele, Holger, Nurnberg, Peter, Toosi, Mehran Beiraghi, Akhondian, Javad, Karimiani, Ehsan Ghayoor, Hummel-Abmeier, Hannah, Huppke, Brenda, Houlden, Henry, Gartner, Jutta, Maroofian, Reza, and Huppke, Peter

Abstract

Wong et al. describe a severe neurodevelopmental disorder with progressive brain atrophy caused by variants in TAF8 coding for a subunit of the TFIID complex. Review of the literature reveals that loss of function mutations in other subunits of the TFIID complex are associated with similar phenotypes. TAF8 is part of the transcription factor II D complex, composed of the TATA-binding protein and 13 TATA-binding protein-associated factors (TAFs). Transcription factor II D is the first general transcription factor recruited at promoters to assemble the RNA polymerase II preinitiation complex. So far disorders related to variants in 5 of the 13 subunits of human transcription factor II D have been described. Recently, a child with a homozygous c.781-1G>A mutation in TAF8 has been reported. Here we describe seven further patients with mutations in TAF8 and thereby confirm the TAF8 related disorder. In two sibling patients, we identified two novel compound heterozygous TAF8 splice site mutations, c.45+4A > G and c.489G>A, which cause aberrant splicing as well as reduced expression and mislocalization of TAF8. In five further patients, the previously described c.781-1G > A mutation was present on both alleles. The clinical phenotype associated with the different TAF8 mutations is characterized by severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Cerebral imaging showed hypomyelination, a thin corpus callosum and brain atrophy. Moreover, repeated imaging in the sibling pair demonstrated progressive cerebral and cerebellar atrophy. Consistently, reduced N-acetylaspartate, a marker of neuronal viability, was observed on magnetic resonance spectroscopy. Further review of the literature shows that mutations causing a reduced expression of transcription factor II D subunits have an overlapping phenotype of microcephaly, developmental delay and intellectual disability. Although transcriptio

Published
2022

29. Effect of fingolimod on health-related quality of life in paediatric patients with multiple sclerosis: results from the phase 3 PARADIGMS Study

Author

Krupp, Lauren, primary, Banwell, Brenda, additional, Chitnis, Tanuja, additional, Deiva, Kumaran, additional, Gaertner, Jutta, additional, Ghezzi, Angelo, additional, Huppke, Peter, additional, Waubant, Emmanuelle, additional, DeLasHeras, Virginia, additional, Azmon, Amin, additional, and Karan, Rajesh, additional

Published
2022
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33. Autorenverzeichnis

Author

Aktas, Orhan, primary, Alvermann, Sascha, additional, Brück, Wolfgang, additional, Faiss, Jürgen H., additional, Fitzner, Brit, additional, Flachenecker, Peter, additional, Gärtner, Jutta, additional, Garten, Lars, additional, Gerken, Jeanine, additional, Greiner, Wolfgang, additional, Haas, Judith, additional, Hardt, Cornelia, additional, Haupts, Michael, additional, Hecker, Michael, additional, Hoffmann, Frank A., additional, Hoppenworth, Uwe, additional, Huppke, Peter, additional, Kern, Raimar, additional, Köhler, Wolfgang, additional, Krumbholz, Markus, additional, Kunkel, Annett, additional, Linke, Ernst, additional, Littig, Eva, additional, Martin, Roland, additional, Meinl, Edgar, additional, Pitschnau-Michel, Dorothea, additional, Pöhlau, Dieter, additional, Reinshagen, Alexander, additional, Rieckmann, Peter, additional, Sailer, Michael, additional, Schifferdecker, Michael, additional, Schipper, Sabine, additional, Schippling, Sven, additional, Manfred Schmidt, Rudolf, additional, Scholz, Stefan, additional, Sokol, Christina, additional, Stadelmann-Nessler, Christine, additional, Stangel, Martin, additional, Tumani, Hayrettin, additional, Zettl, Uwe K., additional, Ziemssen, Tjalf, additional, Zimmermann, Klaus, additional, and Zipp, Frauke, additional

Published
2015
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38. A novel remitting leukodystrophy associated with a variant in FBP2

Author

Gizak, Agnieszka, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wisniewski, Janusz, Duda, Przemyslaw, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Hoehne, Wolfgang, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Rakus, Dariusz, Gaertner, Jutta, Huppke, Peter, Gizak, Agnieszka, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wisniewski, Janusz, Duda, Przemyslaw, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Hoehne, Wolfgang, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Rakus, Dariusz, Gaertner, Jutta, and Huppke, Peter

Abstract

Leukodystrophies are genetic disorders of cerebral white matter that almost exclusively have a progressive disease course. We became aware of three members of a family with a disorder characterized by a sudden loss of all previously acquired abilities around 1 year of age followed by almost complete recovery within 2 years. Cerebral MR1 and myelin sensitive imaging showed a pronounced demyelination that progressed for several months despite signs of clinical improvement and was followed by remyelination. Exome sequencing did not-identify any mutations in known leukodystrophy genes but revealed a heterozygous variant in the FBP2 gene, c.343G>A, p. Val115Met, shared by the affected family members. Cerebral MRI of other family members demonstrated similar white matter abnormalities in all carriers of the variant in FBP2. The FBP2 gene codes for muscle fructose 1,6-bisphosphatase, an enzyme involved in gluconeogenesis that is highly expressed in brain tissue. Biochemical analysis showed that the variant has a dominant negative effect on enzymatic activity, substrate affinity, cooperativity and thermal stability. Moreover, it also affects the non-canonical functions of muscle fructose 1,6-bisphosphatase involved in mitochondrial protection and regulation of several nuclear processes. In patients' fibroblasts, muscle fructose 1,6-bisphosphatase shows no colocalization with mitochondria and nuclei leading to increased reactive oxygen species production and a disturbed mitochondrial network. In conclusion, the results of this study indicate that the variant in FBP2 disturbs cerebral energy metabolism and is associated with a novel remitting leukodystrophy.

Published
2021

43. A novel remitting leukodystrophy associated with a variant in FBP2

Author

Gizak, Agnieszka, primary, Diegmann, Susann, additional, Dreha-Kulaczewski, Steffi, additional, Wiśniewski, Janusz, additional, Duda, Przemysław, additional, Ohlenbusch, Andreas, additional, Huppke, Brenda, additional, Henneke, Marco, additional, Höhne, Wolfgang, additional, Altmüller, Janine, additional, Thiele, Holger, additional, Nürnberg, Peter, additional, Rakus, Dariusz, additional, Gärtner, Jutta, additional, and Huppke, Peter, additional

Published
2021
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44. Pregnancy outcomes in interferon-beta-exposed patients with multiple sclerosis

Author

Hellwig, Kerstin (Prof Dr. med.), Geissbühler, Yvonne (Dr. med.), Sabidó, Meritxell, Popescu, Catrinel, Adamo, Alessandra, Klinger, Joachim, Ornoy, Asher (Prof. Dr.), and Huppke, Peter (Prof. Dr.)

Abstract

\(\bf Background\) Family planning is an important consideration for women with multiple sclerosis (MS), who are often diagnosed during their reproductive years. Currently, limited data are available on pregnancy outcomes in patients exposed to interferon-beta (IFN-beta) before or during pregnancy. Here, we present the cumulative pregnancy exposure data and prevalence of pregnancy and infant outcomes in IFN-beta-exposed pregnant women with MS from the European IFN-beta Pregnancy Registry. \(\bf Methods\) Using spontaneous and solicited reports, the registry collected data from 26 countries of the European Economic Area, consisting of information on women with MS identifying themselves to one of the Marketing Authorisation Holders (Bayer, Biogen, Merck KGaA, and Novartis) or healthcare professionals as pregnant and exposed to IFN-beta during pregnancy or within 1 month before conception. The outcomes collected by the registry included ectopic pregnancies, spontaneous abortions, elective terminations, live, and stillbirths with or without congenital anomalies. The prevalence of pregnancy outcomes was put in context with those reported in the general population. \(\bf Results\) Between 2009 and 2017, the registry collected 948 pregnancy reports with a known pregnancy outcome. Overall, 82.0% (777/948) of pregnancies resulted in live birth without congenital anomaly. When comparing IFN-beta-exposed pregnancies with the general population, the prevalence of spontaneous abortions (10.7% vs. 10–21%) and congenital anomalies in live births (2.1% vs. 2.1–4.1%) were found to be within reported ranges. \(\bf Conclusions\) The data gathered from these pregnancy cases suggest no evidence that IFN-beta exposure before conception and/or during pregnancy adversely increases the rate of congenital anomalies or spontaneous abortions.

Published
2020

47. Renovascular Hypertension

Author

Bien, Christian G., primary, Elger, Christian E., additional, Afzal, Ali R., additional, Natah, Sirajedin, additional, Häyrinen-Immonen, Ritva, additional, Konttinen, Yrjö, additional, Zubenko, George S., additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Marinella, Mark A., additional, Kohlschütter, Alfried, additional, Nguyen, Tam, additional, Shirali, Anushree C., additional, Goldstein, Daniel R., additional, Samaniego, Millie, additional, Kaplan, Bruce, additional, Hansson, Ann-Sofie, additional, Raggio, Julie, additional, Welch, William J., additional, Teh, Bin Tean, additional, Yang, Ximing J., additional, Teh, Bin Sing, additional, Kahnoski, Richard J., additional, Vogelzang, Nicholas J., additional, Iyengar, Sudha K., additional, Freedman, Barry I., additional, Sperling, Oded, additional, Dhalla, Naranjan S., additional, Saini, Harjot K., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Sugrue, Richard J., additional, Kuba, Keiji, additional, Imai, Yumiko, additional, Penninger, Josef, additional, Kassubek, Jan, additional, Unrath, Alexander, additional, Wallace, Margaret R., additional, Pauly, Daniel F., additional, Chetta, Alfredo, additional, Olivieri, Dario, additional, Ruether, Klaus, additional, Berger, Wolfgang, additional, Lohmann, Dietmar, additional, Lang, Gabriele E., additional, Huppke, Peter, additional, Häberle, Johannes, additional, Nuoffer, Jean-Marc, additional, Steer, Andrew C., additional, Carapetis, Jonathan R., additional, McInnes, Iain B., additional, Rangel-Moreno, Javier, additional, Randall, Troy D., additional, Heppt, Werner J., additional, Cryer, Annette, additional, Bams-Mengerink, Annemieke M., additional, Brites, Pedro, additional, Poll-The, Bwee Tien, additional, Wanders, Ronald J. A., additional, Tenenhouse, Harriet S., additional, Ma, Siobhan D., additional, Ma, Patrick T. S., additional, Leung, Alexander K. C., additional, Zehelein, Joerg, additional, Khalil, Markus, additional, Koenen, Michael, additional, Zouboulis, Christos C., additional, Kaplan, Kevin, additional, Meislin, Robert J., additional, Davies, H. Dele, additional, Metze, Dieter, additional, Jansen, Peter L. M., additional, Sauve, Reginald S., additional, Robson, William Lane M., additional, Gervasini, Cristina, additional, Bentivegna, Angela, additional, and Larizza, Lidia, additional

Published
2009
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48. Rhinitis, Allergic

Author

Bien, Christian G., primary, Elger, Christian E., additional, Afzal, Ali R., additional, Natah, Sirajedin, additional, Häyrinen-Immonen, Ritva, additional, Konttinen, Yrjö, additional, Zubenko, George S., additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Marinella, Mark A., additional, Kohlschütter, Alfried, additional, Nguyen, Tam, additional, Shirali, Anushree C., additional, Goldstein, Daniel R., additional, Samaniego, Millie, additional, Kaplan, Bruce, additional, Hansson, Ann-Sofie, additional, Raggio, Julie, additional, Welch, William J., additional, Teh, Bin Tean, additional, Yang, Ximing J., additional, Teh, Bin Sing, additional, Kahnoski, Richard J., additional, Vogelzang, Nicholas J., additional, Iyengar, Sudha K., additional, Freedman, Barry I., additional, Sperling, Oded, additional, Dhalla, Naranjan S., additional, Saini, Harjot K., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Sugrue, Richard J., additional, Kuba, Keiji, additional, Imai, Yumiko, additional, Penninger, Josef, additional, Kassubek, Jan, additional, Unrath, Alexander, additional, Wallace, Margaret R., additional, Pauly, Daniel F., additional, Chetta, Alfredo, additional, Olivieri, Dario, additional, Ruether, Klaus, additional, Berger, Wolfgang, additional, Lohmann, Dietmar, additional, Lang, Gabriele E., additional, Huppke, Peter, additional, Häberle, Johannes, additional, Nuoffer, Jean-Marc, additional, Steer, Andrew C., additional, Carapetis, Jonathan R., additional, McInnes, Iain B., additional, Rangel-Moreno, Javier, additional, Randall, Troy D., additional, Heppt, Werner J., additional, Cryer, Annette, additional, Bams-Mengerink, Annemieke M., additional, Brites, Pedro, additional, Poll-The, Bwee Tien, additional, Wanders, Ronald J. A., additional, Tenenhouse, Harriet S., additional, Ma, Siobhan D., additional, Ma, Patrick T. S., additional, Leung, Alexander K. C., additional, Zehelein, Joerg, additional, Khalil, Markus, additional, Koenen, Michael, additional, Zouboulis, Christos C., additional, Kaplan, Kevin, additional, Meislin, Robert J., additional, Davies, H. Dele, additional, Metze, Dieter, additional, Jansen, Peter L. M., additional, Sauve, Reginald S., additional, Robson, William Lane M., additional, Gervasini, Cristina, additional, Bentivegna, Angela, additional, and Larizza, Lidia, additional

Published
2009
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49. Roseola Infantum

Author

Bien, Christian G., primary, Elger, Christian E., additional, Afzal, Ali R., additional, Natah, Sirajedin, additional, Häyrinen-Immonen, Ritva, additional, Konttinen, Yrjö, additional, Zubenko, George S., additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Marinella, Mark A., additional, Kohlschütter, Alfried, additional, Nguyen, Tam, additional, Shirali, Anushree C., additional, Goldstein, Daniel R., additional, Samaniego, Millie, additional, Kaplan, Bruce, additional, Hansson, Ann-Sofie, additional, Raggio, Julie, additional, Welch, William J., additional, Teh, Bin Tean, additional, Yang, Ximing J., additional, Teh, Bin Sing, additional, Kahnoski, Richard J., additional, Vogelzang, Nicholas J., additional, Iyengar, Sudha K., additional, Freedman, Barry I., additional, Sperling, Oded, additional, Dhalla, Naranjan S., additional, Saini, Harjot K., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Sugrue, Richard J., additional, Kuba, Keiji, additional, Imai, Yumiko, additional, Penninger, Josef, additional, Kassubek, Jan, additional, Unrath, Alexander, additional, Wallace, Margaret R., additional, Pauly, Daniel F., additional, Chetta, Alfredo, additional, Olivieri, Dario, additional, Ruether, Klaus, additional, Berger, Wolfgang, additional, Lohmann, Dietmar, additional, Lang, Gabriele E., additional, Huppke, Peter, additional, Häberle, Johannes, additional, Nuoffer, Jean-Marc, additional, Steer, Andrew C., additional, Carapetis, Jonathan R., additional, McInnes, Iain B., additional, Rangel-Moreno, Javier, additional, Randall, Troy D., additional, Heppt, Werner J., additional, Cryer, Annette, additional, Bams-Mengerink, Annemieke M., additional, Brites, Pedro, additional, Poll-The, Bwee Tien, additional, Wanders, Ronald J. A., additional, Tenenhouse, Harriet S., additional, Ma, Siobhan D., additional, Ma, Patrick T. S., additional, Leung, Alexander K. C., additional, Zehelein, Joerg, additional, Khalil, Markus, additional, Koenen, Michael, additional, Zouboulis, Christos C., additional, Kaplan, Kevin, additional, Meislin, Robert J., additional, Davies, H. Dele, additional, Metze, Dieter, additional, Jansen, Peter L. M., additional, Sauve, Reginald S., additional, Robson, William Lane M., additional, Gervasini, Cristina, additional, Bentivegna, Angela, additional, and Larizza, Lidia, additional

Published
2009
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50. RTH

Author

Bien, Christian G., primary, Elger, Christian E., additional, Afzal, Ali R., additional, Natah, Sirajedin, additional, Häyrinen-Immonen, Ritva, additional, Konttinen, Yrjö, additional, Zubenko, George S., additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Marinella, Mark A., additional, Kohlschütter, Alfried, additional, Nguyen, Tam, additional, Shirali, Anushree C., additional, Goldstein, Daniel R., additional, Samaniego, Millie, additional, Kaplan, Bruce, additional, Hansson, Ann-Sofie, additional, Raggio, Julie, additional, Welch, William J., additional, Teh, Bin Tean, additional, Yang, Ximing J., additional, Teh, Bin Sing, additional, Kahnoski, Richard J., additional, Vogelzang, Nicholas J., additional, Iyengar, Sudha K., additional, Freedman, Barry I., additional, Sperling, Oded, additional, Dhalla, Naranjan S., additional, Saini, Harjot K., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Sugrue, Richard J., additional, Kuba, Keiji, additional, Imai, Yumiko, additional, Penninger, Josef, additional, Kassubek, Jan, additional, Unrath, Alexander, additional, Wallace, Margaret R., additional, Pauly, Daniel F., additional, Chetta, Alfredo, additional, Olivieri, Dario, additional, Ruether, Klaus, additional, Berger, Wolfgang, additional, Lohmann, Dietmar, additional, Lang, Gabriele E., additional, Huppke, Peter, additional, Häberle, Johannes, additional, Nuoffer, Jean-Marc, additional, Steer, Andrew C., additional, Carapetis, Jonathan R., additional, McInnes, Iain B., additional, Rangel-Moreno, Javier, additional, Randall, Troy D., additional, Heppt, Werner J., additional, Cryer, Annette, additional, Bams-Mengerink, Annemieke M., additional, Brites, Pedro, additional, Poll-The, Bwee Tien, additional, Wanders, Ronald J. A., additional, Tenenhouse, Harriet S., additional, Ma, Siobhan D., additional, Ma, Patrick T. S., additional, Leung, Alexander K. C., additional, Zehelein, Joerg, additional, Khalil, Markus, additional, Koenen, Michael, additional, Zouboulis, Christos C., additional, Kaplan, Kevin, additional, Meislin, Robert J., additional, Davies, H. Dele, additional, Metze, Dieter, additional, Jansen, Peter L. M., additional, Sauve, Reginald S., additional, Robson, William Lane M., additional, Gervasini, Cristina, additional, Bentivegna, Angela, additional, and Larizza, Lidia, additional

Published
2009
Full Text
View/download PDF

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