Medizinische Universität Graz - Research portal

Logo MUG Resarch Portal

Papic Lea |

** = Publications listed in SCI/SSCI/Pubmed

2012

Full paper/article (Journal)

** Fischer, C; Trajanoski, S; Papić, L; Windpassinger, C; Bernert, G; Freilinger, M; Schabhüttl, M; Arslan-Kirchner, M; Javaher-Haghighi, P; Plecko, B; Senderek, J; Rauscher, C; Löscher, WN; Pieber, TR; Janecke, AR; Auer-Grumbach, M SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
J Neurol. 2012; 259(3):515-523 Doi: 10.1007/s00415-011-6213-8 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** Leonardis, L; Auer-Grumbach, M; Papić, L; Zidar, J The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.
Eur J Neurol. 2012; 19(7):992-998 Doi: 10.1111/j.1468-1331.2012.03665.x
Web of Science PubMed FullText FullText_MUG

 

2011

Full paper/article (Journal)

** Auer-Grumbach, M; Weger, M; Fink-Puches, R; Papić, L; Fröhlich, E; Auer-Grumbach, P; El Shabrawi-Caelen, L; Schabhüttl, M; Windpassinger, C; Senderek, J; Budka, H; Trajanoski, S; Janecke, AR; Haas, A; Metze, D; Pieber, TR; Guelly, C Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Brain. 2011; 134(Pt 6):1839-1852 Doi: 10.1093/brain/awr076 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG Google Scholar

 

** Guelly, C; Zhu, PP; Leonardis, L; Papic, L; Zidar, J; Schabhüttl, M; Strohmaier, H; Weis, J; Strom, TM; Baets, J; Willems, J; De Jonghe, P; Reilly, MM; Fröhlich, E; Hatz, M; Trajanoski, S; Pieber, TR; Janecke, AR; Blackstone, C; Auer-Grumbach, M Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Am J Hum Genet. 2011; 88(1):99-105 Doi: 10.1016/j.ajhg.2010.12.003 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG Google Scholar

 

Review

** Finsterer, J; Papić, L; Auer-Grumbach, M Motor neuron, nerve, and neuromuscular junction disease.
Curr Opin Neurol. 2011; 24(5):469-474 Doi: 10.1097/WCO.0b013e32834a9448
Web of Science PubMed FullText FullText_MUG

 

2010

Full paper/article (Journal)

** Auer-Grumbach, M; Olschewski, A; Papić, L; Kremer, H; McEntagart, ME; Uhrig, S; Fischer, C; Fröhlich, E; Bálint, Z; Tang, B; Strohmaier, H; Lochmüller, H; Schlotter-Weigel, B; Senderek, J; Krebs, A; Dick, KJ; Petty, R; Longman, C; Anderson, NE; Padberg, GW; Schelhaas, HJ; van Ravenswaaij-Arts, CM; Pieber, TR; Crosby, AH; Guelly, C Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Nat Genet. 2010; 42(2):160-164 Doi: 10.1038/ng.508 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** Papić, L; Fischer, D; Trajanoski, S; Höftberger, R; Fischer, C; Ströbel, T; Schmidt, WM; Bittner, RE; Schabhüttl, M; Gruber, K; Pieber, TR; Janecke, AR; Auer-Grumbach, M SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.
Eur J Med Genet. 2010; 54(3):214-219 Doi: 10.1016/j.ejmg.2010.12.003 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG Google Scholar

 

2008

Full paper/article (Journal)

** Auer-Grumbach, M; Fischer, C; Papić, L; John, E; Plecko, B; Bittner, RE; Bernert, G; Pieber, TR; Miltenberger, G; Schwarz, R; Windpassinger, C; Grill, F; Timmerman, V; Speicher, MR; Janecke, AR Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Neuropediatrics. 2008; 39(1):33-38 Doi: 10.1055/s-2008-1077085 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG Google Scholar

 

© Med Uni Graz • Imprint