Publications by authors named "Lea Papic"

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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.
Carina Fischer, Slave Trajanoski, Lea Papić, Christian Windpassinger, Günther Bernert

J Neurol· March 2012

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Motor neuron, nerve, and neuromuscular junction disease.
Josef Finsterer, Lea Papić, Michaela Auer-Grumbach

Curr Opin Neurol· October 2011

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SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.
Lea Papić, Dirk Fischer, Slave Trajanoski, Romana Höftberger, Carina Fischer

Eur J Med Genet· September 2011

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Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Michaela Auer-Grumbach, Martin Weger, Regina Fink-Puches, Lea Papić, Eleonore Fröhlich

Brain· June 2011

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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, Lea Papić, Janez Zidar

Am J Hum Genet· January 2011

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Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Michaela Auer-Grumbach, Andrea Olschewski, Lea Papić, Hannie Kremer, Meriel E McEntagart

Nat Genet· February 2010

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