Manuela Zitzelsberger

Transcriptional regulator PRDM12 is essential for human pain perception

Ya-Chun Chen, Michaela Auer‐Grumbach, Shinya Matsukawa et al. · Nature Genetics · 2015 · 170 citations · Full text

Pain Syndrome, Signal Transduction, Health Sciences +8

Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

Andreas Roos, Stephan Buchkremer, Laxmikanth Kollipara et al. · Acta Neuropathologica · 2013 · 61 citations

Mitochondrial Myopathy, Protein Quality Control, Autoimmune Disease +6

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

Michaela Auer‐Grumbach, Stefan Toegel, Maria Schabhüttl et al. · The American Journal of Human Genetics · 2016 · 58 citations · Full text

Rare Diseases, Mendelian Disorder, Rare Variants +8

50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation

Maggie C. Walter, Martina Rossius, Manuela Zitzelsberger et al. · Neuromuscular Disorders · 2015 · 57 citations

Mendelian Disorder, Autoimmune Disease, Pathology +3

<i>HSJ1</i> -related hereditary neuropathies

Burkhard Gess, Michaela Auer‐Grumbach, Anja Schirmacher et al. · Neurology · 2014 · 49 citations