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Human Mutation|February 5, 2009
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytesAlberto Zullo, Werner Klingler, Claudia De Sarno, et al.
Neuroscience Letters|August 7, 2003
Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging studyJan Kassubek, Freimut D Juengling, Stefanie Hoffmann, et al.
Radiology|April 16, 2016
7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic ParalysesMarc-André Weber, Armin M Nagel, Anja M Marschar, et al.
Radiology|June 16, 2006
Evaluation of patients with paramyotonia at 23Na MR imaging during cold-induced weaknessMarc-André Weber, Sonia Nielles-Vallespin, Hagen B Huttner, et al.
Orphanet Journal of Rare Diseases|January 18, 2014
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre studyWerner Klingler, Sebastian Heiderich, Thierry Girard, et al.
Plos One|April 14, 2017
Vascular endothelial growth factor A amplification in colorectal cancer is associated with reduced M1 and M2 macrophages and diminished PD-1-expressing lymphocytesKatharina Burmeister, Luca Quagliata, Mariacarla Andreozzi, et al.
Epilepsia|May 18, 2004
Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 familiesYvonne G Weber, Andrea Berger, Nerses Bebek, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|October 18, 2011
Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndromeGuiscard Seebohm, Nathalie Strutz-Seebohm, Oana N Ursu, et al.
American Journal of Human Genetics|September 13, 2003
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effectLinda L Bachinski, Bjarne Udd, Giovanni Meola, et al.
The Journal of Clinical Investigation|May 3, 2008
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leakYvonne G Weber, Alexander Storch, Thomas V Wuttke, et al.
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