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Number of items: 9.

2020

Schuessler, S. C.; Gerhalter, T.; Abicht, A.; Müller-Felber, W.; Nagel, A. M. and Trollmann, R. (2020): p report Rare intronic mutation between Exon 62 and 63 (c.9225-285A > G) of the dystrophin gene associated with atypical BMD phenotype. In: Neuromuscular Disorders, Vol. 30, No. 8: pp. 680-684

2019

Wunderlich, G.; Abicht, A.; Brunn, A.; Daimagueler, H. -S.; Schroeter, M.; Fink, G. R.; Lehmann, H. C. and Cirak, S. (2019): Kongenitale myasthene Syndrome im Erwachsenenalter. Diagnostisch herausfordernd, selten, aber behandelbar. In: Nervenarzt, Vol. 90, No. 2: pp. 148-159

2018

Braunisch, M. C.; Gallwitz, H.; Abicht, A.; Diebold, I.; Holinski-Feder, E.; Maldergem, L. van; Lammens, M.; Kovacs-Nagy, R.; Alhaddad, B.; Strom, T. M.; Meitinger, T.; Senderek, J.; Rudnik-Schöneborn, Sabine and Haack, T. B. (2018): Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. In: Clinical Genetics, Vol. 93, No. 2: pp. 255-265

2017

Topf, A.; Azuma, Y.; Gorokhova, S.; O'Connor, E.; Porter, A.; Harris, E.; Evangelista, T.; Cox, D.; Lorenzoni, P.; McMacken, G.; Barton, M.; McArthur, D.; Magnusson, O.; Abicht, A.; Senderek, J.; Roos, A.; Abicht, A. and Lochmüller, H. (2017): Next generation sequencing technologies in the genetic diagnosis of congenital myasthenic syndrome. In: Neuromuscular Disorders, Vol. 27: S196-S197

Walter, M.; Reilich, P.; Krause, S.; Abicht, A. and Schoser, B. (2017): Congenital centronuclear myopathy and epidermolysis bullosa due to two novel mutations in the plectin gene. In: Neuromuscular Disorders, Vol. 27: S112-S112

2016

Natera-de Benito, D.; Nascimento, A.; Abicht, A.; Ortez, C.; Jou, C.; Müller, J. S.; Evangelista, T.; Töpf, A.; Thompson, R.; Jimenez-Mallebrera, C.; Colomer, J. and Lochmüller, H. (2016): KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. In: Journal of Neurology, Vol. 263, No. 3: pp. 517-523

Natera-de Benito, D.; Bestué, M.; Vilchez, J. J.; Evangelista, T.; Töpf, A.; García-Ribes, A.; Trujillo-Tiebas, M. J.; García-Hoyos, M.; Ortez, C.; Camacho, A.; Jiménez, E.; Dusl, M.; Abicht, A.; Lochmüller, H.; Colomer, J. and Nascimento, A. (2016): Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations. In: Neuromuscular Disorders, Vol. 26, No. 2: pp. 153-159

2012

Chaouch, A.; Mueller, J. S.; Guergueltcheva, V.; Muntoni, F.; Bushby, K.; Straub, V.; Palace, J.; Beeson, D.; Abicht, A. and Lochmüller, H. (2012): The clinical phenotypic spectrum of GFPT1 associated congenital myasthenic syndrome. In: Journal of neurology, neurosurgery, and psychiatry, Vol. 83, No. 3, e1 [PDF, 49kB]

2010

Mihaylova, V.; Scola, R. H.; Gervini, B.; Lorenzoni, P. J.; Kay, C. K.; Werneck, L. C.; Stucka, R.; Guergueltcheva, V.; Hagen, M. von der; Huebner, A.; Abicht, A.; Mueller, J. S. and Lochmueller, H. (2010): Molecular characterisation of congenital myasthenic syndromes in Southern Brazil. In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 81, No. 9: pp. 973-977 [PDF, 520kB]

This list was generated on Sun Jul 14 10:11:58 2024 CEST.