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	1.	Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. [electronic resource] by Kuhm, Christoph Gallenmüller, Constanze Dörk, Thilo Menzel, Moritz Biskup, Saskia Klopstock, Thomas Producer: 20160229 In: Journal of neurology vol. 262 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene. [electronic resource] by Stendel, Claudia Gallenmüller, Constanze Peters, Katrin Bürger, Friederike Gramer, Gwendolyn Biskup, Saskia Klopstock, Thomas Producer: 20160129 In: Journal of neurology vol. 262 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment. [electronic resource] by Catarino, Claudia B Vollmar, Christian Küpper, Clemens Seelos, Klaus Gallenmüller, Constanze Bartkiewicz, Joanna Biskup, Saskia Hörtnagel, Konstanze Klopstock, Thomas Producer: 20180813 In: Journal of neurology vol. 265 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy. [electronic resource] by Distelmaier, Felix Haack, Tobias B Catarino, Claudia B Gallenmüller, Constanze Rodenburg, Richard J Strom, Tim M Baertling, Fabian Meitinger, Thomas Mayatepek, Ertan Prokisch, Holger Klopstock, Thomas Producer: 20160613 In: Neurogenetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK. [electronic resource] by Gallenmüller, Constanze Müller-Felber, Wolfgang Dusl, Marina Stucka, Rolf Guergueltcheva, Velina Blaschek, Astrid von der Hagen, Maja Huebner, Angela Müller, Juliane S Lochmüller, Hanns Abicht, Angela Producer: 20140910 In: Neuromuscular disorders : NMD vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. [electronic resource] by Abicht, Angela Dusl, Marina Gallenmüller, Constanze Guergueltcheva, Velina Schara, Ulrike Della Marina, Adele Wibbeler, Eva Almaras, Sybille Mihaylova, Violeta von der Hagen, Maja Huebner, Angela Chaouch, Amina Müller, Juliane S Lochmüller, Hanns Producer: 20130705 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene. [electronic resource] by D'Adamo, Maria C Gallenmüller, Constanze Servettini, Ilenio Hartl, Elisabeth Tucker, Stephen J Arning, Larissa Biskup, Saskia Grottesi, Alessandro Guglielmi, Luca Imbrici, Paola Bernasconi, Pia Di Giovanni, Giuseppe Franciolini, Fabio Catacuzzeno, Luigi Pessia, Mauro Klopstock, Thomas Producer: 20150202 In: Frontiers in physiology vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients. [electronic resource] by Schüle, Rebecca Wiethoff, Sarah Martus, Peter Karle, Kathrin N Otto, Susanne Klebe, Stephan Klimpe, Sven Gallenmüller, Constanze Kurzwelly, Delia Henkel, Dorothea Rimmele, Florian Stolze, Henning Kohl, Zacharias Kassubek, Jan Klockgether, Thomas Vielhaber, Stefan Kamm, Christoph Klopstock, Thomas Bauer, Peter Züchner, Stephan Liepelt-Scarfone, Inga Schöls, Ludger Producer: 20160906 In: Annals of neurology vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. [electronic resource] by 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 de Jonghe, Peter Anheim, Mathieu Taroni, Franco Bauer, Peter Producer: 20170508 In: Brain : a journal of neurology vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)