Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.

Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Tassoni, Adrian; Stein, Sabine; Vogt, Sibylle; Zöller, Daniela; Bernert, Günther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Schwersenz, Inge; Walter, Maggie C; Baumann, Matthias; Baumgartner, Manuela; Deschauer, Marcus; Eisenkölbl, Astrid; Flotats-Bastardas, Marina; Hahn, Andreas; Horber, Veronka; Husain, Ralf A; Illsinger, Sabine; Johannsen, Jessika; Köhler, Cornelia; Kölbel, Heike; Müller, Monika; von Moers, Arpad; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Stögmann, Eva; Trollmann, Regina; Vill, Katharina; Weiß, Claudia; Wiegand, Gert; Ziegler, Andreas; Lochmüller, Hanns; Kirschner, Janbernd.

Brain ; 146(2): 668-677, 2023 02 13.

Artigo em Inglês | MEDLINE | ID: mdl-35857854

2.

Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia.

Indelicato, Elisabetta; Boesch, Sylvia; Baumgartner, Manuela; Plecko, Barbara; Winkelmann, Juliane; Zech, Michael.

Mov Disord ; 38(2): 355-357, 2023 02.

Artigo em Inglês | MEDLINE | ID: mdl-36416405

3.

Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.

Kurth, Ingo; Baumgartner, Manuela; Schabhüttl, Maria; Tomni, Cecilia; Windhager, Reinhard; Strom, Tim M; Wieland, Thomas; Gremel, Kurt; Auer-Grumbach, Michaela.

Am J Med Genet B Neuropsychiatr Genet ; 171(6): 875-8, 2016 09.

Artigo em Inglês | MEDLINE | ID: mdl-27184211

4.

Horizontal head titubation in infants with Joubert syndrome: a new finding.

Poretti, Andrea; Christen, Hans-Jürgen; Elton, Lindsay E; Baumgartner, Manuela; Korenke, Georg Christoph; Sukhudyan, Biayna; Hethey, Sven; Cross, Elizabeth; Steinlin, Maja; Boltshauser, Eugen.

Dev Med Child Neurol ; 56(10): 1016-20, 2014 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-24814865

5.

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

Schwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Behrens, Max; Weiß, Claudia; Johannsen, Jessika; Friese, Johannes; Hahn, Andreas; Ziegler, Andreas; Illsinger, Sabine; Smitka, Martin; von Moers, Arpad; Kölbel, Heike; Schreiber, Gudrun; Kaiser, Nadja; Wilichowski, Ekkehard; Flotats-Bastardas, Marina; Husain, Ralf A; Baumann, Matthias; Köhler, Cornelia; Trollmann, Regina; Schwerin-Nagel, Annette; Eisenkölbl, Astrid; Schimmel, Mareike; Fleger, Martin; Kauffmann, Birgit; Wiegand, Gert; Baumgartner, Manuela; Rauscher, Christian; Cirak, Sebahattin; Gläser, Dieter; Bernert, Günther; Hagenacker, Tim; Goldbach, Susanne; Probst-Schendzielorz, Kristina; Lochmüller, Hanns; Müller-Felber, Wolfgang; Schara-Schmidt, Ulrike; Walter, Maggie C; Kirschner, Janbernd; Pechmann, Astrid.

JAMA Pediatr ; 2024 Apr 08.

Artigo em Inglês | MEDLINE | ID: mdl-38587854

6.

5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.

Vill, Katharina; Tacke, Moritz; König, Anna; Baumann, Matthias; Baumgartner, Manuela; Steinbach, Meike; Bernert, Guenther; Blaschek, Astrid; Deschauer, Marcus; Flotats-Bastardas, Marina; Friese, Johannes; Goldbach, Susanne; Gross, Martin; Günther, René; Hahn, Andreas; Hagenacker, Tim; Hauser, Erwin; Horber, Veronka; Illsinger, Sabine; Johannsen, Jessika; Kamm, Christoph; Koch, Jan C; Koelbel, Heike; Koehler, Cornelia; Kolzter, Kirsten; Lochmüller, Hanns; Ludolph, Albert; Mensch, Alexander; Meyer Zu Hoerste, Gerd; Mueller, Monika; Mueller-Felber, Wolfgang; Neuwirth, Christoph; Petri, Susanne; Probst-Schendzielorz, Kristina; Pühringer, Manuel; Steinbach, Robert; Schara-Schmidt, Ulrike; Schimmel, Mareike; Schrank, Bertold; Schwartz, Oliver; Schlachter, Kurt; Schwerin-Nagel, Annette; Schreiber, Gudrun; Smitka, Martin; Topakian, Raffi; Trollmann, Regina; Tuerk, Matthias; Theophil, Manuela; Rauscher, Christian; Vorgerd, Mathias.

J Neurol ; 271(5): 2787-2797, 2024 May.

Artigo em Inglês | MEDLINE | ID: mdl-38409538

7.

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.

Krenn, Martin; Sener, Merve; Rath, Jakob; Zulehner, Gudrun; Keritam, Omar; Wagner, Matias; Laccone, Franco; Iglseder, Stephan; Marte, Sonja; Baumgartner, Manuela; Eisenkölbl, Astrid; Liechtenstein, Christian; Rudnik, Sabine; Quasthoff, Stefan; Grinzinger, Susanne; Spenger, Johannes; Wortmann, Saskia B; Löscher, Wolfgang N; Zimprich, Fritz; Kellersmann, Anna; Rappold, Mika; Bernert, Günther; Freilinger, Michael; Cetin, Hakan.

J Neurol ; 270(2): 909-916, 2023 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-36308527

8.

Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.

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; Steinbach, Meike; Blaschek, Astrid; Baumann, Matthias; Baumgartner, Manuela; Becker, Benedikt; Flotats-Bastardas, Marina; Friese, Johannes; Günther, Rene; Hahn, Andreas; Küpper, Hanna; Johannsen, Jessika; Kamm, Christoph; Koch, Jan Christoph; Köhler, Cornelia; Kölbel, Heike; Kolzter, Kirsten; von Moers, Arpad; Naegel, Steffen; Neuwirth, Christoph; Petri, Susanne; Rödiger, Annekathrin; Schimmel, Mareike; Schrank, Bertold; Schreiber, Gudrun; Smitka, Martin; Stadler, Christian; Steiner, Elisabeth; Stögmann, Eva; Trollmann, Regina; Türk, Matthias; Weiler, Markus; Stoltenburg, Corinna; Willichowsky, Ekkehard; Zeller, Daniel; Ziegler, Andreas; Lochmüller, Hanns; Kirschner, Janbernd.

J Neuromuscul Dis ; 10(1): 29-40, 2023.

Artigo em Inglês | MEDLINE | ID: mdl-36565133

9.

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

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.

Orphanet J Rare Dis ; 17(1): 384, 2022 10 23.

Artigo em Inglês | MEDLINE | ID: mdl-36274155

10.

Prof. Heinz F. R. Prechtl (1927-2014).

Baumgartner, Manuela.

Neuropediatrics ; 46(2): 151-2, 2015 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-25796460

11.

Tetramitus thermacidophilus n. sp., an amoeboflagellate from acidic hot springs.

Baumgartner, Manuela; Eberhardt, Silvia; De Jonckheere, Johan F; Stetter, Karl O.

J Eukaryot Microbiol ; 56(2): 201-6, 2009.

Artigo em Inglês | MEDLINE | ID: mdl-21462554

12.

The glycolytic pathway of Trimastix pyriformis is an evolutionary mosaic.

Stechmann, Alexandra; Baumgartner, Manuela; Silberman, Jeffrey D; Roger, Andrew J.

BMC Evol Biol ; 6: 101, 2006 Nov 23.

Artigo em Inglês | MEDLINE | ID: mdl-17123440

13.

Apoptosis triggered by DNA damage O6-methylguanine in human lymphocytes requires DNA replication and is mediated by p53 and Fas/CD95/Apo-1.

Roos, Wynand; Baumgartner, Manuela; Kaina, Bernd.

Oncogene ; 23(2): 359-67, 2004 Jan 15.

Artigo em Inglês | MEDLINE | ID: mdl-14724564

14.

Resistance of p53 knockout cells to doxorubicin is related to reduced formation of DNA strand breaks rather than impaired apoptotic signaling.

Dunkern, Torsten R; Wedemeyer, Inga; Baumgärtner, Manuela; Fritz, Gerhard; Kaina, Bernd.

DNA Repair (Amst) ; 2(1): 49-60, 2003 Jan 02.

Artigo em Inglês | MEDLINE | ID: mdl-12509267

15.

Transcriptional regulator PRDM12 is essential for human pain perception.

Chen, Ya-Chun; Auer-Grumbach, Michaela; Matsukawa, Shinya; Zitzelsberger, Manuela; Themistocleous, Andreas C; Strom, Tim M; Samara, Chrysanthi; Moore, Adrian W; Cho, Lily Ting-Yin; Young, Gareth T; Weiss, Caecilia; Schabhüttl, Maria; Stucka, Rolf; Schmid, Annina B; Parman, Yesim; Graul-Neumann, Luitgard; Heinritz, Wolfram; Passarge, Eberhard; Watson, Rosemarie M; Hertz, Jens Michael; Moog, Ute; Baumgartner, Manuela; Valente, Enza Maria; Pereira, Diego; Restrepo, Carlos M; Katona, Istvan; Dusl, Marina; Stendel, Claudia; Wieland, Thomas; Stafford, Fay; Reimann, Frank; von Au, Katja; Finke, Christian; Willems, Patrick J; Nahorski, Michael S; Shaikh, Samiha S; Carvalho, Ofélia P; Nicholas, Adeline K; Karbani, Gulshan; McAleer, Maeve A; Cilio, Maria Roberta; McHugh, John C; Murphy, Sinead M; Irvine, Alan D; Jensen, Uffe Birk; Windhager, Reinhard; Weis, Joachim; Bergmann, Carsten; Rautenstrauss, Bernd; Baets, Jonathan.

Nat Genet ; 47(7): 803-8, 2015 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-26005867

16.

Concentriols B, C and D, three squalene-type triterpenoids from the ascomycete Daldinia concentrica.

Quang, Dang Ngoc; Hashimoto, Toshihiro; Tanaka, Masami; Baumgartner, Manuela; Stadler, Marc; Asakawa, Yoshinori.

Phytochemistry ; 61(3): 345-53, 2002 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-12359521

17.

Amoeba stages in the deepest branching heteroloboseans, including Pharyngomonas: evolutionary and systematic implications.

Harding, Tommy; Brown, Matthew W; Plotnikov, Andrey; Selivanova, Elena; Park, Jong Soo; Gunderson, John H; Baumgartner, Manuela; Silberman, Jeffrey D; Roger, Andrew J; Simpson, Alastair G B.

Protist ; 164(2): 272-86, 2013 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-23021907

18.

Oramoeba fumarolia gen. nov., sp. nov., a new marine heterolobosean amoeboflagellate growing at 54 °C.

De Jonckheere, Johan F; Baumgartner, Manuela; Eberhardt, Silvia; Opperdoes, Fred R; Stetter, Karl O.

Eur J Protistol ; 47(1): 16-23, 2011 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-20932726

19.

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Chen, Ya-Chun; Auer-Grumbach, Michaela; Matsukawa, Shinya; Zitzelsberger, Manuela; Themistocleous, Andreas C; Strom, Tim M; Samara, Chrysanthi; Moore, Adrian W; Cho, Lily Ting-Yin; Young, Gareth T; Weiss, Caecilia; Schabhüttl, Maria; Stucka, Rolf; Schmid, Annina B; Parman, Yesim; Graul-Neumann, Luitgard; Heinritz, Wolfram; Passarge, Eberhard; Watson, Rosemarie M; Hertz, Jens Michael; Moog, Ute; Baumgartner, Manuela; Valente, Enza Maria; Pereira, Diego; Restrepo, Carlos M; Katona, Istvan; Dusl, Marina; Stendel, Claudia; Wieland, Thomas; Stafford, Fay; Reimann, Frank; von Au, Katja; Finke, Christian; Willems, Patrick J; Nahorski, Michael S; Shaikh, Samiha S; Carvalho, Ofélia P; Nicholas, Adeline K; Karbani, Gulshan; McAleer, Maeve A; Cilio, Maria Roberta; McHugh, John C; Murphy, Sinead M; Irvine, Alan D; Jensen, Uffe Birk; Windhager, Reinhard; Weis, Joachim; Bergmann, Carsten; Rautenstrauss, Bernd; Baets, Jonathan.

Nat Genet ; 47(8): 962, 2015 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-26220135

20.

Marinamoeba thermophila, a new marine heterolobosean amoeba growing at 50 degrees C.

De Jonckheere, Johan F; Baumgartner, Manuela; Opperdoes, Fred R; Stetter, Karl O.

Eur J Protistol ; 45(3): 231-6, 2009 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-19339165

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