Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Schwerin-Nagel Anette |
** = Publikationen gelistet in SCI/SSCI/Pubmed
2025
Originalarbeit (Zeitschrift)
** Zandl-Lang, M; Züllig, T; Holzer, M; Eichmann, TO; Darnhofer, B; Schwerin-Nagel, A; Zobel, J; Haidl, H; Biebl, A; Köfeler, H; Plecko, B
Multi-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients.
J Neurol. 2025; 272(3): 183
Doi: 10.1007/s00415-025-12909-4
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2024
Originalarbeit (Zeitschrift)
** Schwartz, O; Vill, K; Pfaffenlehner, M; Behrens, M; Weiß, C; Johannsen, J; Friese, J; Hahn, A; Ziegler, A; Illsinger, S; Smitka, M; von, Moers, A; Kölbel, H; Schreiber, G; Kaiser, N; Wilichowski, E; Flotats-Bastardas, M; Husain, RA; Baumann, M; Köhler, C; Trollmann, R; Schwerin-Nagel, A; Eisenkölbl, A; Schimmel, M; Fleger, M; Kauffmann, B; Wiegand, G; Baumgartner, M; Rauscher, C; Cirak, S; Gläser, D; Bernert, G; Hagenacker, T; Goldbach, S; Probst-Schendzielorz, K; Lochmüller, H; Müller-Felber, W; Schara-Schmidt, U; Walter, MC; Kirschner, J; Pechmann, A, , SMARTCARE, study, group
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
JAMA Pediatr. 2024;
Doi: 10.1001/jamapediatrics.2024.0492
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Vill, K; Tacke, M; König, A; Baumann, M; Baumgartner, M; Steinbach, M; Bernert, G; Blaschek, A; Deschauer, M; Flotats-Bastardas, M; Friese, J; Goldbach, S; Gross, M; Günther, R; Hahn, A; Hagenacker, T; Hauser, E; Horber, V; Illsinger, S; Johannsen, J; Kamm, C; Koch, JC; Koelbel, H; Koehler, C; Kolzter, K; Lochmüller, H; Ludolph, A; Mensch, A; Meyer, Zu, Hoerste, G; Mueller, M; Mueller-Felber, W; Neuwirth, C; Petri, S; Probst-Schendzielorz, K; Pühringer, M; Steinbach, R; Schara-Schmidt, U; Schimmel, M; Schrank, B; Schwartz, O; Schlachter, K; Schwerin-Nagel, A; Schreiber, G; Smitka, M; Topakian, R; Trollmann, R; Tuerk, M; Theophil, M; Rauscher, C; Vorgerd, M; Walter, MC; Weiler, M; Weiss, C; Wilichowski, E; Wurster, CD; Wunderlich, G; Zeller, D; Ziegler, A; Kirschner, J; Pechmann, A, , SMArtCARE, study, group
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
J Neurol. 2024;
Doi: 10.1007/s00415-024-12188-5
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Editorial
** Schwartz, O; Vill, K; Pfaffenlehner, M; Behrens, M; Weiss, C; Johannsen, J; Friese, J; Hahn, A; Ziegler, A; Illsinger, S; Smitka, M; von Moers, A; Kölbel, H; Schreiber, G; Kaiser, N; Wilichowski, E; Flotats-Bastardas, M; Husain, RA; Baumann, M; Köhler, C; Trollmann, R; Schwerin-Nagel, A; Eisenkölbl, A; Schimmel, M; Fleger, M; Kauffmann, B; Wiegand, G; Baumgartner, M; Rauscher, C; Cirak, S; Gläser, D; Bernert, G; Hagenacker, T; Goldbach, S; Probst-Schendzielorz, K; Lochmüller, H; Müller-Felber, W; Schara-Schmidt, U; Walter, MC; Kirschner, J; Pechmann, A; SMARTCARE Study Grp
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
OBSTET GYNECOL SURV. 2024; 79(12): 702-704.
Doi: 10.1097/01.ogx.0001096632.82255.e5
Web of Science
FullText
FullText_MUG
2023
Originalarbeit (Zeitschrift)
** Pechmann, A; Behrens, M; Dörnbrack, K; Tassoni, A; Stein, S; Vogt, S; Zöller, D; Bernert, G; Hagenacker, T; Schara-Schmidt, U; Schwersenz, I; Walter, MC; Baumann, M; Baumgartner, M; Deschauer, M; Eisenkölbl, A; Flotats-Bastardas, M; Hahn, A; Horber, V; Husain, RA; Illsinger, S; Johannsen, J; Köhler, C; Kölbel, H; Müller, M; von, Moers, A; Schlachter, K; Schreiber, G; Schwartz, O; Smitka, M; Steiner, E; Stögmann, E; Trollmann, R; Vill, K; Weiß, C; Wiegand, G; Ziegler, A; Lochmüller, H; Kirschner, J, , SMArtCARE, study, group
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Brain. 2023; 146(2): 668-677.
Doi: 10.1093/brain/awac252
Web of Science
PubMed
FullText
FullText_MUG
2022
Originalarbeit (Zeitschrift)
** Pechmann, A; Behrens, M; Dörnbrack, K; Tassoni, A; Wenzel, F; Stein, S; Vogt, S; Zöller, D; Bernert, G; Hagenacker, T; Schara-Schmidt, U; Walter, MC; Bertsche, A; Vill, K; Baumann, M; Baumgartner, M; Cordts, I; Eisenkölbl, A; Flotats-Bastardas, M; Friese, J; Günther, R; Hahn, A; Horber, V; Husain, RA; Illsinger, S; Jahnel, J; Johannsen, J; Köhler, C; Kölbel, H; Müller, M; von, Moers, A; Schwerin-Nagel, A; Reihle, C; Schlachter, K; Schreiber, G; Schwartz, O; Smitka, M; Steiner, E; Trollmann, R; Weiler, M; Weiß, C; Wiegand, G; Wilichowski, E; Ziegler, A; Lochmüller, H; Kirschner, J, , SMArtCARE, study, group
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Orphanet J Rare Dis. 2022; 17(1):384
Doi: 10.1186/s13023-022-02547-8
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Schorling, DC; Kölbel, H; Hentschel, A; Pechmann, A; Meyer, N; Wirth, B; Rombo, R; Sickmann, A; Kirschner, J; Schara-Schmidt, U; Lochmüller, H; Roos, A, , SMArtCARE, consortium
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.
Eur J Neurol. 2022; 29(7): 2084-2096.
Doi: 10.1111/ene.15331
Web of Science
PubMed
FullText
FullText_MUG
** Vogt, G; Verheyen, S; Schwartzmann, S; Ehmke, N; Potratz, C; Schwerin-Nagel, A; Plecko, B; Holtgrewe, M; Seelow, D; Blatterer, J; Speicher, MR; Kornak, U; Horn, D; Mundlos, S; Fischer-Zirnsak, B; Boschann, F
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
J Med Genet. 2022; 59(7):662-668
Doi: 10.1136/jmedgenet-2021-107843
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2014
Originalarbeit (Zeitschrift)
** Seidel, MG; Duerr, C; Woutsas, S; Schwerin-Nagel, A; Sadeghi, K; Neesen, J; Uhrig, S; Santos-Valente, E; Pickl, WF; Schwinger, W; Urban, C; Boztug, K; Förster-Waldl, E
A novel immunodeficiency syndrome associated with partial trisomy 19p13.
J Med Genet. 2014; 51(4):254-63
Doi: 10.1136/jmedgenet-2013-102122
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2012
Originalarbeit (Zeitschrift)
** Schroeder, AS; Huss, K; Blaschek, A; Koerte, IK; Zeycan, B; Roser, T; Langhagen, T; Schwerin, A; Berweck, S; Reilich, P; Schaefer, J; Straube, A; Heinen, F
Ten-year follow-up in a case series of integrative botulinum toxin intervention in adolescents with chronic daily headache and associated muscle pain.
Neuropediatrics. 2012; 43(6):339-345
Doi: 10.1055/s-0032-1329612
Web of Science
PubMed
FullText
FullText_MUG