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L. Papić

Nature Genetics, American Journal of Human Genetics, Brain : a journal of neurology, Neuropediatrics, Journal of Neurology, European Journal of Neurology, European Journal of Medical Genetics, Current Opinion in Neurology Show more
9
Role
Title
Level Year L/R
🐜 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
25 auth. M. Auer-Grumbach, A. Olschewski, L. Papić, H. Kremer, M. McEntagart, S. Uhrig, Carina Fischer, E. Fröhlich, Z. Bálint, B. Tang, H. Strohmaier, H. Lochmüller, B. Schlotter‐Weigel, J. Senderek, A. Krebs, ... Katherine J. Dick, Richard E. Petty, C. Longman, N. Anderson, G. Padberg, H. J. Schelhaas, C. Ravenswaaij-Arts, T. Pieber, A. Crosby, C. Guelly 		8 2009
8
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🐜 Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
20 auth. C. Guelly, P. Zhu, L. Leonardis, L. Papić, J. Zidar, Maria Schabhüttl, H. Strohmaier, J. Weis, T. Strom, J. Baets, ... Jan Willems, P. de Jonghe, M. Reilly, E. Fröhlich, Martina Hatz, S. Trajanoski, T. Pieber, A. Janecke, C. Blackstone, M. Auer-Grumbach 		7 2011
7
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🐜 Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
17 auth. M. Auer-Grumbach, M. Weger, R. Fink‐Puches, L. Papić, E. Fröhlich, P. Auer‐Grumbach, L. El Shabrawi‐Caelen, Maria Schabhüttl, C. Windpassinger, J. Senderek, ... H. Budka, S. Trajanoski, A. Janecke, A. Haas, D. Metze, T. Pieber, C. Guelly 		6 2011
6
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🐜 Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
15 auth. M. Auer-Grumbach, Carina Fischer, L. Papić, E. John, Barbara Plecko, Reginald E. Bittner, Günther Bernert, Thomas R. Pieber, G. Miltenberger, R. Schwarz, ... C. Windpassinger, Franz Grill, Vincent Timmerman, Michael R. Speicher, A. Janecke 		5 2008
5
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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
16 auth. Carina Fischer, S. Trajanoski, L. Papić, C. Windpassinger, G. Bernert, M. Freilinger, Maria Schabhüttl, M. Arslan‐Kirchner, Poupak Javaher-Haghighi, B. Plecko, ... J. Senderek, C. Rauscher, W. Löscher, T. Pieber, A. Janecke, M. Auer-Grumbach 		4 2011
4
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🐬 The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features
L. Leonardis, M. Auer-Grumbach, L. Papić, J. Zidar 		4 2012
4
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🦁 SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients
13 auth. L. Papić, D. Fischer, S. Trajanoski, R. Höftberger, Carina Fischer, T. Ströbel, W. Schmidt, R. Bittner, Maria Schabhüttl, Karin Gruber, ... T. Pieber, A. Janecke, M. Auer-Grumbach 		3 2011
3
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🐬 Motor neuron, nerve, and neuromuscular junction disease.
J. Finsterer, L. Papić, M. Auer-Grumbach 		2 2011
2
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