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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 8
Zeitschriftenartikel
Brozkova, D. Safka; Stojkovic, T.; Haberlova, J.; Mazanec, R.; Windhager, R.; Rosenegger, P. Fernandes; Hacker, S.; Zuchner, S.; Kochanski, A.; Leonard-Louis, S.; Francou, B.; Latour, P.; Senderek, J.; Seeman, P. und Auer-Grumbach, M.
(2020):
Demyelinating Charcot-Marie-Tooth neuropathy associated withFBLN5mutations.
In: European Journal of Neurology, Bd. 27, Nr. 12: S. 2568-2574
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 und 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, Bd. 93, Nr. 2: S. 255-265
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
Seeman, P.; Lassuthova, P.; Neupauerova, J.; Mazanec, R. und Senderek, J.
(2017):
CMT2B2 in Czech Patients with Different Glaucoma Phenotypes and Three Novel SBF2 Mutations, One of Them De-Novo.
In: Journal of the Peripheral Nervous System, Bd. 22, Nr. 3: S. 379
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
Rudnik-Schöneborn, Sabine; Tölle, D.; Senderek, J.; Eggermann, K.; Elbracht, M.; Kornak, U.; Hagen, M. von der; Kirschner, J.; Leube, B.; Müller-Felberg, W.; Scharah, U.; Au, K. von; Wieczorek, D.; Bußmann, C. und Zerres, K.
(2016):
Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
In: Clinical Genetics, Bd. 89, Nr. 1: S. 34-43
Auer-Grumbach, M.; Bennett, D. L. H.; Andersen, P.; Harms, M. B.; Reilly, M. M.; Weishaupt, J.; Strom, T. M.; Walther, T.; Scherer, S. S.; Zuchner, S.; Martini, R. und Senderek, J.
(2016):
Rare coding variants in the mme gene, encoding the metalloprotease neprilysin, are linked to late-onset axonal neuropathies.
In: Journal of the Peripheral Nervous System, Bd. 21, Nr. 3: S. 235
Kochanski, A.; Kabzinska, D.; Senderek, J.; Mroczek, M.; Binieda, K.; Mierzewska, H. und Hausmanowa-Petrusewicz, I
(2016):
Molecular genetics background and clinical features of inherited polyneuropathy plus syndromes: Study of 8 families.
In: Journal of the Peripheral Nervous System, Bd. 21, Nr. 3: S. 270