Anzahl der Publikationen: 2
Zeitschriftenartikel
Auer-Grumbach, Michaela; Toegel, Stefan; Schabhüttl, Maria; Weinmann, Daniela; Chiari, Catharina; Bennett, David L. H.; Beetz, Christian; Klein, Dennis; Andersen, Peter M.; Böhme, Ilka; Fink-Puches, Regina; Gonzalez, Michael; Harms, Matthew B.; Motley, William; Reilly, Mary M.; Renner, Wilfried; Rudnik-Schoeneborn, Sabine; Schlotter-Weigel, Beate; Themistocleous, Andreas C.; Weishaupt, Jochen H.; Ludolph, Albert C.; Wieland, Thomas; Tao, Feifei; Abreu, Lisa; Windhager, Reinhard; Zitzelsberger, Manuela; Strom, Tim M.; Walther, Thomas; Scherer, Steven S.; Züchner, Stephan; Martini, Rudolf und Senderek, Jan
(2016):
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
In: American Journal of Human Genetics, Bd. 99, Nr. 3: S. 607-623
Synofzik, Matthis; Smets, Katrien; Mallaret, Martial; Di Bella, Daniela; Gallenmüller, Constanze; Baets, Jonathan; Schulze, Martin; Magri, Stefania; Sarto, Elisa; Mustafa, Mona; Deconinck, Tine; Haack, Tobias; Züchner, Stephan; Gonzalez, Michael; Timmann, Dagmar; Stendel, Claudia; Klopstock, Thomas; Durr, Alexandra; Tranchant, Christine; Sturm, Marc; Hamza, Wahiba; Nanetti, Lorenzo; Mariotti, Caterina; Koenig, Michel; Schöls, Ludger; Schüle, Rebecca; Jonghe, Peter de; Anheim, Mathieu; Taroni, Franco und Bauer, Peter
(2016):
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
In: Brain, Bd. 139: S. 1378-1393
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Sun Aug 11 01:01:31 2024 CEST
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