Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

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

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

Brain ; 147(4): 1197-1205, 2024 Apr 04.

Artigo em Inglês | MEDLINE | ID: mdl-38141063

2.

Mutations in TAF8 cause a neurodegenerative disorder.

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

Brain ; 145(9): 3022-3034, 2022 09 14.

Artigo em Inglês | MEDLINE | ID: mdl-35759269

3.

Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome.

Wong, Keit Men; Wegener, Eike; Baradaran-Heravi, Alireza; Huppke, Brenda; Gärtner, Jutta; Huppke, Peter.

Int J Mol Sci ; 24(14)2023 Jul 19.

Artigo em Inglês | MEDLINE | ID: mdl-37511424

4.

Temporal profile of lymphocyte counts and relationship with infections with fingolimod therapy in paediatric patients with multiple sclerosis: Results from the PARADIGMS study.

Chitnis, Tanuja; Banwell, Brenda; Krupp, Lauren; Arnold, Douglas L; Bar-Or, Amit; Brück, Wolfgang; Giovannoni, Gavin; Greenberg, Benjamin; Ghezzi, Angelo; Waubant, Emmanuelle; Rostasy, Kevin; Deiva, Kumaran; Huppke, Peter; Wolinsky, Jerry S; Zhang, Ying; Azmon, Amin; K-Laflamme, Annik; Karan, Rajesh; Gärtner, Jutta.

Mult Scler ; 27(6): 922-932, 2021 05.

Artigo em Inglês | MEDLINE | ID: mdl-32633694

5.

Consistent control of disease activity with fingolimod versus IFN ß-1a in paediatric-onset multiple sclerosis: further insights from PARADIGMS.

Deiva, Kumaran; Huppke, Peter; Banwell, Brenda; Chitnis, Tanuja; Gärtner, Jutta; Krupp, Lauren; Waubant, Emmanuelle; Stites, Tracy; Pearce, Gregory Lewis; Merschhemke, Martin.

J Neurol Neurosurg Psychiatry ; 91(1): 58-66, 2020 01.

Artigo em Inglês | MEDLINE | ID: mdl-31467033

6.

Therapy of highly active pediatric multiple sclerosis.

Huppke, Peter; Huppke, Brenda; Ellenberger, David; Rostasy, Kevin; Hummel, Hannah; Stark, Wiebke; Brück, Wolfgang; Gärtner, Jutta.

Mult Scler ; 25(1): 72-80, 2019 01.

Artigo em Inglês | MEDLINE | ID: mdl-28933245

7.

Extensive acute axonal damage in pediatric multiple sclerosis lesions.

Pfeifenbring, Sabine; Bunyan, Reem F; Metz, Imke; Röver, Christian; Huppke, Peter; Gärtner, Jutta; Lucchinetti, Claudia F; Brück, Wolfgang.

Ann Neurol ; 77(4): 655-67, 2015 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-25612167

8.

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.

Kettwig, Matthias; Elpeleg, Orly; Wegener, Eike; Dreha-Kulaczewski, Steffi; Henneke, Marco; Gärtner, Jutta; Huppke, Peter.

BMC Neurol ; 16: 74, 2016 May 21.

Artigo em Inglês | MEDLINE | ID: mdl-27206732

9.

Age-Dependent Seroprevalence of JCV Antibody in Children.

Hennes, Eva Maria; Kornek, Barbara; Huppke, Peter; Reindl, Markus; Rostasy, Kevin; Berger, Thomas.

Neuropediatrics ; 47(2): 112-4, 2016 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-26479766

10.

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

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; Pieper, Andrew A.

Nature ; 525(7570): 552, 2015 Sep 24.

Artigo em Inglês | MEDLINE | ID: mdl-26176914

11.

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

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; Vigneau, Sebastian; 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; Pieper, Andrew A.

Nature ; 521(7552): E1-4, 2015 May 21.

Artigo em Inglês | MEDLINE | ID: mdl-25993969

12.

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

Huppke, Peter; Brendel, Cornelia; Kalscheuer, Vera; Korenke, Georg Christoph; Marquardt, Iris; Freisinger, Peter; Christodoulou, John; Hillebrand, Merle; Pitelet, Gaele; Wilson, Callum; Gruber-Sedlmayr, Ursula; Ullmann, Reinhard; Haas, Stefan; Elpeleg, Orly; Nürnberg, Gudrun; Nürnberg, Peter; Dad, Shzeena; Møller, Lisbeth Birk; Kaler, Stephen G; Gärtner, Jutta.

Am J Hum Genet ; 90(1): 61-8, 2012 Jan 13.

Artigo em Inglês | MEDLINE | ID: mdl-22243965

13.

JC virus antibody status in a pediatric multiple sclerosis cohort: prevalence, conversion rate and influence on disease severity.

Huppke, Peter; Hummel, Hanna; Ellenberger, David; Pfeifenbring, Sabine; Stark, Wiebke; Huppke, Brenda; Brück, Wolfgang; Gärtner, Jutta.

Mult Scler ; 21(4): 382-7, 2015 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-25070674

14.

Chemokine-mediated redirection of T cells constitutes a critical mechanism of glucocorticoid therapy in autoimmune CNS responses.

Schweingruber, Nils; Fischer, Henrike J; Fischer, Lisa; van den Brandt, Jens; Karabinskaya, Anna; Labi, Verena; Villunger, Andreas; Kretzschmar, Benedikt; Huppke, Peter; Simons, Mikael; Tuckermann, Jan P; Flügel, Alexander; Lühder, Fred; Reichardt, Holger M.

Acta Neuropathol ; 127(5): 713-29, 2014 May.

Artigo em Inglês | MEDLINE | ID: mdl-24488308

15.

Long term follow-up in GAMT deficiency - Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data.

Marten, Lara M; Krätzner, Ralph; Salomons, Gajja S; Fernandez Ojeda, Matilde; Dechent, Peter; Gärtner, Jutta; Huppke, Peter; Dreha-Kulaczewski, Steffi.

Mol Genet Metab Rep ; 38: 101053, 2024 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-38469086

16.

Acute disseminated encephalomyelitis followed by recurrent or monophasic optic neuritis in pediatric patients.

Huppke, Peter; Rostasy, Kevin; Karenfort, Michael; Huppke, Brenda; Seidl, Rainer; Leiz, Steffen; Reindl, Markus; Gärtner, Jutta.

Mult Scler ; 19(7): 941-6, 2013 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-23128668

17.

MOG Antibodies in Pediatric Neurology.

Huppke, Peter.

Neuropediatrics ; 49(1): 1-2, 2018 02.

Artigo em Inglês | MEDLINE | ID: mdl-28915516

18.

Therapeutic apheresis in pediatric patients with acute CNS inflammatory demyelinating disease.

Koziolek, Michael; Mühlhausen, Johannes; Friede, Tim; Ellenberger, David; Sigler, Matthias; Huppke, Brenda; Gärtner, Jutta; Müller, Gerhard-Anton; Huppke, Peter.

Blood Purif ; 36(2): 92-7, 2013.

Artigo em Inglês | MEDLINE | ID: mdl-24021839

19.

Pretreatment Neurofilament Light Chain Serum Levels, Early Disease Severity, and Treatment Response in Pediatric Multiple Sclerosis.

Huppke, Brenda; Reinert, Marie-Christine; Hummel-Abmeier, Hannah; Stark, Wiebke; Gärtner, Jutta; Huppke, Peter.

Neurology ; 101(19): e1873-e1883, 2023 11 07.

Artigo em Inglês | MEDLINE | ID: mdl-37748882

20.

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

Huppke, Peter; Brendel, Cornelia; Korenke, Georg Christoph; Marquardt, Iris; Donsante, Anthony; Yi, Ling; Hicks, Julia D; Steinbach, Peter J; Wilson, Callum; Elpeleg, Orly; Møller, Lisbeth Birk; Christodoulou, John; Kaler, Stephen G; Gärtner, Jutta.

Hum Mutat ; 33(8): 1207-15, 2012 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-22508683

BVS Doenças Infecciosas e Parasitárias

Informação e Conhecimento para a Saúde

Configurar filtros

Sua seleção (0)

Formato de exportação:

Exportar: