G. Kuhlenbäumer
University of Münster
11 Papers
77 Citations
G. Kuhlenbäumer is an academic researcher from University of Münster. The author has contributed to research in topics: Hereditary neuralgic amyotrophy & Gene mapping. The author has an hindex of 8, co-authored 11 publications. Previous affiliations of G. Kuhlenbäumer include University of Antwerp.
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Papers
Clinical features and molecular genetics of hereditary peripheral neuropathies.
TL;DR: This review summarises the clinical and molecular genetic features of primary inherited neuropathies and is aimed primarily at clinicians and geneticists.
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Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.
Meulemann J,G. Kuhlenbäumer,A Schirmacher,Manfred Wehnert,De Jonghe P,De Vriendt E,Peter Young,Airaksinen E,Pou-Serradell A,J.M. Prats,Bernd Ringelstein,Florian Stögbauer,Van Broeckhoven C,Timmerman +13 more
TL;DR: To refine the previously described HNA locus on chromosome 17q25, a genetic linkage study in five HNA families with different geographic origins found significant linkage was obtained with chromosomes 17q24–q25 short tandem repeat (STR) markers in three H NA families and suggestive linkage was found in the other two HNA Families.
Hereditary neuralgic amyotrophy (HNA) is genetically heterogeneous
G. Kuhlenbäumer,J. Meuleman,P. De Jonghe,B. Falck,Peter Young,G. Hünermund,C. Van Broeckhoven,Timmerman,Florian Stögbauer +8 more
TL;DR: Clinically and genetically two families with classic remitting-relapsing HNA that are not linked to the previously described HNA locus on chromosome 17q25 are described, demonstrating that clinically homogeneous classical HNA is genetically heterogeneous.
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PMP22 Thr118Met is not a clinically relevant CMT1 marker.
Peter Young,Florian Stögbauer,B Eller,P. De Jonghe,Ann Löfgren,Vincent Timmerman,Bernd Rautenstrauss,Konrad Oexle,H. Grehl,G. Kuhlenbäumer,C. Van Broeckhoven,Erich Bernd Ringelstein,Harald Funke +12 more
TL;DR: It is concluded that the hemizygous occurrence of the 118Met allele does not usually cause CMT1, and the PMP22 Thr118Met mutation is not a clinically relevant disease marker.
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