Publications by authors named "Barbara Lucke"

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Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing.
Ellen Knierim, Barbara Lucke, Jana Marie Schwarz, Markus Schuelke, Dominik Seelow

PLoS One· April 2012

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Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Clare V Logan, Barbara Lucke, Caroline Pottinger, Zakia A Abdelhamed, David A Parry

Nat Genet· November 2011

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Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.
Ellen Knierim, Lilia Leisle, Christiane Wagner, Bernhard Weschke, Barbara Lucke

Stroke· February 2011

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Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
Anna Rajab, Volker Straub, Liza J McCann, Dominik Seelow, Raymonda Varon, Barbara Lucke

PLoS Genet· March 2010

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A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany.
Katrin Hoffmann, Christian Planitz, Franz Rüschendorf, Bertram Müller-Myhsok, Hans H Stassen, Barbara Lucke

J Hypertens· May 2009

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Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
Antoon J M Janssen, Markus Schuelke, Jan A M Smeitink, Frans J M Trijbels, Rob C A Sengers, Barbara Lucke

Ann Neurol· April 2008

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De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.
Anja Brinckmann, Klaus Rüther, Kathleen Williamson, Birgit Lorenz, Barbara Lucke

J Mol Med (Berl)· February 2007

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Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage.
Matthias T F Wolf, Isabella Zalewski, Félix Claverie Martin, Rainer Ruf, Dominik Müller, Barbara Lucke

Nephrol Dial Transplant· May 2005

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A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2.
Rainer G Ruf, Matthias T F Wolf, Hans C Hennies, Barbara Lucke, Christina Zinn

J Am Soc Nephrol· June 2003

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Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).
Katrin Hoffmann, Christine K Dreger, Ada L Olins, Donald E Olins, Leonard D Shultz, Barbara Lucke

Nat Genet· August 2002

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