Lea Papić

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 · 267 citations · Full text

Ankyrin Domain, Scapuloperoneal Sma, Molecular Biology +4

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

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

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

Developmental Anomaly, Peripheral Nerves, Mendelian Disorder +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