Author/Creator: Abicht, A. - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Abicht, A.

1. Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Issue 2 (8th November 2017)

Authors:: Braunisch, M.C.; Gallwitz, H.; Abicht, A.; Diebold, I.; Holinski‐Feder, E.; Van Maldergem, L.; Lammens, M.; Kovács‐Nagy, R.; Alhaddad, B.; Strom, T.M.; Meitinger, T.; Senderek, J.; Rudnik‐Schöneborn, S.; Haack, T.B.
Journal:: Clinical genetics
Issue:: Volume 93:Issue 2(2018)
Page Start:: 255
Record Type:: Journal Article
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2. FV 49 Fast-myosin myopathy as a rare cause of external ophthalmoplegia and severe myopathy with tetraparesis. Issue 8 (August 2019)

Authors:: Wunderlich, G.; Weis, J.; Kreutzer, M.; Abicht, A.; Vorgerd, M.; Fink, G.R.; Lehmann, H.C.; Cirak, S.
Journal:: Clinical neurophysiology
Issue:: Volume 130:Issue 8(2019:Aug.)
Page Start:: e143
Record Type:: Journal Article
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3. Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum. Issue 1 (December 2016)

Authors:: Lühl, S.; Bode, H.; Schlötzer, W.; Bartsakoulia, M.; Horvath, R.; Abicht, A.; Stenzel, M.; Kirschner, J.; Grünert, S.
Journal:: Orphanet journal of rare diseases
Issue:: Volume 11:Issue 1(2016)
Page Start:: 1
Record Type:: Journal Article
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4. P 42 Congenital myasthenia in adult patients – a diagnostic and therapeutic challenge. Issue 10 (October 2017)

Authors:: Ritter, C.; Cirak, S.; Abicht, A.; Lehmann, H.C.; Brunn, A.; Fink, G.; Schroeter, M.; Wunderlich, G.
Journal:: Clinical neurophysiology
Issue:: Volume 128:Issue 10(2017:Oct.)
Page Start:: e351
Record Type:: Journal Article
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