Concepedia

Maria Schabhüttl

MS

11

Publications

759

Citations

11

H-Index

2010

Active since

Affiliations

Medical University of Vienna(Current)

Medical University of Graz

Helmholtz Zentrum München

University of Antwerp

VIB-UAntwerp Center for Molecular Neurology

Maria Schabhüttl is an author at Medical University of Vienna specializing in medicine, genetics, and neurology.

Top concepts

Publications per year

2010–2016

11

Publications

11

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

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Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

Christian Guelly, Peng-Peng Zhu, Lea Leonardis et al. · The American Journal of Human Genetics · 2010 · 140 citations · Full text

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

Christian Beetz, Thomas R. Pieber, Nicole Hertel et al. · The American Journal of Human Genetics · 2012 · 87 citations · Full text

, , +13

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

Maria Schabhüttl, Thomas Wieland, Jan Senderek et al. · Journal of Neurology · 2014 · 75 citations · Full text

, , +8

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

Michaela Auer‐Grumbach, Martin Weger, Regina Fink‐Puches et al. · Brain · 2011 · 71 citations · Full text

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