Research output per year
Research output per year
Personal profile
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SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
Fischer, C. (First author), Trajanoski, S. (First author), Papic, L., Windpassinger, C., Bernert, G., Freilinger, M., Schabhüttl, M., Arslan-Kirchner, M., Javaher-Haghighi, P., Plecko, B., Senderek, J., Rauscher, C., Löscher, W., Pieber, T., Janecke, A. & Auer-Grumbach, M. (Last author), 2012, In: Journal of Neurology.Research output: Contribution to journal › Research article
17 Citations (Web of Science) -
The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.
Leonardis, L., Auer-Grumbach, M., Papic, L. & Zidar, J., 2012, In: European Journal of Neurology.Research output: Contribution to journal › Research article
13 Citations (Web of Science) -
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Auer-Grumbach, M. (First author), Weger, M., Fink-Puches, R., Papic, L., Fröhlich, E., Auer-Grumbach, P., El-Shabrawi-Caelen, L., Schabhüttl, M., Windpassinger, C., Senderek, J., Budka, H., Trajanoski, S., Janecke, A., Haas, A., Metze, D., Pieber, T. & Gülly, C. (Last author), 2011, In: Brain.Research output: Contribution to journal › Research article
54 Citations (Web of Science) -
Motor neuron, nerve, and neuromuscular junction disease.
Finsterer, J., Papic, L. & Auer-Grumbach, M. (Last author), 2011, In: Current Opinion in Neurology.Research output: Contribution to journal › Review
5 Citations (Web of Science) -
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Gülly, C. (First author), Zhu, P., Leonardis, L., Papic, L., Zidar, J., Schabhüttl, M., Strohmaier, H., Weis, J., Strom, T., Baets, J., Willems, J., De Jonghe, P., Reilly, M., Fröhlich, E., Hofstadler, M., Trajanoski, S., Pieber, T., Janecke, A., Blackstone, C. & Auer-Grumbach, M. (Last author), 2011, In: American Journal of Human Genetics.Research output: Contribution to journal › Research article
110 Citations (Web of Science)