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

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

doi:10.1007/s00415-022-11440-0

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

Martin Krenn, Merve Sener, Jakob Rath, Gudrun Zulehner, Omar Keritam, Matias Wagner, Franco Laccone, Stephan Iglseder, Sonja Marte, Manuela Baumgartner, Astrid Eisenkölbl, Christian Liechtenstein, Sabine Rudnik, Stefan Quasthoff, Susanne Grinzinger (Co-Autor/-in), Johannes Spenger (Co-Autor/-in), Saskia Wortmann (Co-Autor/-in), Wolfgang N Löscher, Fritz Zimprich, Anna KellersmannMika Rappold, Günther Bernert, Michael Freilinger, Hakan Cetin

Publikation: Beitrag in Fachzeitschrift › Originalarbeit (Zeitschrift) › Begutachtung

7 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	909-916
Seitenumfang	8
Fachzeitschrift	JOURNAL OF NEUROLOGY
Jahrgang	270
Ausgabenummer	2
DOIs	https://doi.org/10.1007/s00415-022-11440-0
Publikationsstatus	Veröffentlicht - Feb. 2023

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10.1007/s00415-022-11440-0

Dieses zitieren

Krenn, M., Sener, M., Rath, J., Zulehner, G., Keritam, O., Wagner, M., Laccone, F., Iglseder, S., Marte, S., Baumgartner, M., Eisenkölbl, A., Liechtenstein, C., Rudnik, S., Quasthoff, S., Grinzinger, S., Spenger, J., Wortmann, S., Löscher, W. N., Zimprich, F., ... Cetin, H. (2023). The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study. JOURNAL OF NEUROLOGY , 270(2), 909-916. https://doi.org/10.1007/s00415-022-11440-0

Krenn, Martin ; Sener, Merve ; Rath, Jakob et al. / The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study. in: JOURNAL OF NEUROLOGY 2023 ; Jahrgang 270, Nr. 2. S. 909-916.

@article{7ad39e67cc9b48a19f1ae3157edffeab,

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

keywords = "SALBUTAMOL, MUTATIONS, DIAGNOSIS, COMMON, Acetylcholinesterase/genetics, Prevalence, Humans, Austria/epidemiology, Treatment Outcome, Mutation, Myasthenic Syndromes, Congenital/diagnosis",

author = "Martin Krenn and Merve Sener and Jakob Rath and Gudrun Zulehner and Omar Keritam and Matias Wagner and Franco Laccone and Stephan Iglseder and Sonja Marte and Manuela Baumgartner and Astrid Eisenk{\"o}lbl and Christian Liechtenstein and Sabine Rudnik and Stefan Quasthoff and Susanne Grinzinger and Johannes Spenger and Saskia Wortmann and L{\"o}scher, {Wolfgang N} and Fritz Zimprich and Anna Kellersmann and Mika Rappold and G{\"u}nther Bernert and Michael Freilinger and Hakan Cetin",

note = "Grinzinger: Paracelsus Med Univ, Dept Neurol, Salzburger Landeskliniken, Salzburg, Austria; Spenger, Wortmann: Paracelsus Med Univ, Univ Childrens Hosp, Salzburg, Austria; Wortmann, Saskia: University Children{\textquoteright}s Hospital, Paracelsus Medical University, Salzburg, Austria",

year = "2023",

month = feb,

doi = "10.1007/s00415-022-11440-0",

language = "English",

volume = "270",

pages = "909--916",

journal = "JOURNAL OF NEUROLOGY ",

publisher = "Springer Nature",

number = "2",

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Krenn, M, Sener, M, Rath, J, Zulehner, G, Keritam, O, Wagner, M, Laccone, F, Iglseder, S, Marte, S, Baumgartner, M, Eisenkölbl, A, Liechtenstein, C, Rudnik, S, Quasthoff, S, Grinzinger, S , Spenger, J , Wortmann, S, Löscher, WN, Zimprich, F, Kellersmann, A, Rappold, M, Bernert, G, Freilinger, M & Cetin, H 2023, 'The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.', JOURNAL OF NEUROLOGY , Jg. 270, Nr. 2, S. 909-916. https://doi.org/10.1007/s00415-022-11440-0

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study. / Krenn, Martin; Sener, Merve; Rath, Jakob et al.
in: JOURNAL OF NEUROLOGY , Jahrgang 270, Nr. 2, 02.2023, S. 909-916.

Publikation: Beitrag in Fachzeitschrift › Originalarbeit (Zeitschrift) › Begutachtung

TY - JOUR

T1 - The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.

AU - Krenn, Martin

AU - Sener, Merve

AU - Rath, Jakob

AU - Zulehner, Gudrun

AU - Keritam, Omar

AU - Wagner, Matias

AU - Laccone, Franco

AU - Iglseder, Stephan

AU - Marte, Sonja

AU - Baumgartner, Manuela

AU - Eisenkölbl, Astrid

AU - Liechtenstein, Christian

AU - Rudnik, Sabine

AU - Quasthoff, Stefan

AU - Grinzinger, Susanne

AU - Spenger, Johannes

AU - Wortmann, Saskia

AU - Löscher, Wolfgang N

AU - Zimprich, Fritz

AU - Kellersmann, Anna

AU - Rappold, Mika

AU - Bernert, Günther

AU - Freilinger, Michael

AU - Cetin, Hakan

N1 - Grinzinger: Paracelsus Med Univ, Dept Neurol, Salzburger Landeskliniken, Salzburg, Austria; Spenger, Wortmann: Paracelsus Med Univ, Univ Childrens Hosp, Salzburg, Austria; Wortmann, Saskia: University Children’s Hospital, Paracelsus Medical University, Salzburg, Austria

PY - 2023/2

Y1 - 2023/2

KW - SALBUTAMOL

KW - MUTATIONS

KW - DIAGNOSIS

KW - COMMON

KW - Acetylcholinesterase/genetics

KW - Prevalence

KW - Humans

KW - Austria/epidemiology

KW - Treatment Outcome

KW - Mutation

KW - Myasthenic Syndromes, Congenital/diagnosis

U2 - 10.1007/s00415-022-11440-0

DO - 10.1007/s00415-022-11440-0

M3 - Original Article (Journal)

C2 - 36308527

VL - 270

SP - 909

EP - 916

JO - JOURNAL OF NEUROLOGY

JF - JOURNAL OF NEUROLOGY

IS - 2

ER -

Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M et al. The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study. JOURNAL OF NEUROLOGY . 2023 Feb;270(2):909-916. doi: 10.1007/s00415-022-11440-0