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Anzahl der Publikationen: 7
Zeitschriftenartikel
Jimenez-Moreno, A. C.; Raaphorst, J.; Babacic, H.; Wood, L.; Engelen, B. van; Lochmüller, H.; Schoser, B. und Wenninger, S.
(2018):
Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey.
In: Neuromuscular Disorders, Bd. 28, Nr. 3: S. 229-235
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. und Lochmüller, H.
(2017):
Next generation sequencing technologies in the genetic diagnosis of congenital myasthenic syndrome.
In: Neuromuscular Disorders, Bd. 27:
S196-S197
Roos, A.; Senderek, J.; Cox, D.; Wiessner, M.; Zahedi, R.; Charlton, R.; Barresi, R.; Hathazi, D. und Lochmüller, H.
(2017):
Autosomal recessive myopathy associated with cataracts and learning difficulties caused by INPP5K mutations: a new syndromic gene linking four overlapping rare recessive neuromuscular disorders.
In: Neuromuscular Disorders, Bd. 27:
S110-S110
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. und Lochmüller, H.
(2016):
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.
In: Journal of Neurology, Bd. 263, Nr. 3: S. 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. und Nascimento, A.
(2016):
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
In: Neuromuscular Disorders, Bd. 26, Nr. 2: S. 153-159
Chaouch, A.; Mueller, J. S.; Guergueltcheva, V.; Muntoni, F.; Bushby, K.; Straub, V.; Palace, J.; Beeson, D.; Abicht, A. und Lochmüller, H.
(2012):
The clinical phenotypic spectrum of GFPT1 associated congenital myasthenic syndrome.
In: Journal of neurology, neurosurgery, and psychiatry, Bd. 83, Nr. 3, e1
[PDF, 49kB]
Toepfer, Marcel; Folwaczny, Christian; Lochmüller, H.; Schroeder, M.; Riepl, R. L.; Pongratz, D. und Müller-Felber, W.
(1999):
Noninvasive ¹³C-octanoic acid breath test shows delayed gastric emptying in patients with amyotrophic lateral sclerosis.
In: Digestion, Nr. 6: S. 567-571
[PDF, 285kB]