Concepedia
Statistics
Publications
7
Citations
563
H-Index
Active since
2008
Affiliations
Medical University of Graz(Current)
Innsbruck Medical University
Medical University of Vienna
RWTH Aachen University
ETH Zurich
Lea Papić is an author at Medical University of Graz specializing in genetic disorders, genetics, and life sciences.
Publications per year
2008–2012
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
Michaela Auer‐Grumbach, Andrea Olschewski, Lea Papić et al. · Nature Genetics · 2009 · 269 citations · Full text
Life Sciences, Molecular Biology, Molecular Genetics +3
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
Life Sciences, Genetics, Neurology +17
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
Life Sciences, Genetics, Molecular Genetics +16
Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome
Michaela Auer‐Grumbach, Carina Fischer, Lea Papić et al. · Neuropediatrics · 2008 · 31 citations
Life Sciences, Genetics, Molecular Genetics +13
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
Carina Fischer, Slave Trajanoski, Lea Papić et al. · Journal of Neurology · 2011 · 22 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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