6 Result(s)

Article

Decline in the number of patients with meningitis in German hospitals during the COVID-19 pandemic

In 2020, a wide range of hygiene measures was implemented to mitigate infections caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). In consequence, pulmonary infections due to other re...

Stefanie Völk, Markus Pfirrmann, Uwe Koedel, Hans-Walter Pfister… in Journal of Neurology (2022)

Article

Multiple Sklerose Therapie Konsensus Gruppe (MSTKG): Positionspapier zur verlaufsmodifizierenden Therapie der Multiplen Sklerose 2021 (White Paper)

Die Multiple Sklerose ist eine komplexe, autoimmun vermittelte Erkrankung des zentralen Nervensystems, charakterisiert durch inflammatorische Demyelinisierung sowie axonalen/neuronalen Schaden. Die Zulassung v...

Univ.-Prof. Dr. Heinz Wiendl, Prof. Dr. Ralf Gold, Thomas Berger… in Der Nervenarzt (2021)

Article

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of hereditary peripheral neuropathies. We previously reported a CMT locus on chromosome 19q13.3 segregating with the disease in a large Costa ...

Alejandro Leal, Sixto Bogantes-Ledezma, Arif B. Ekici, Steffen Uebe… in neurogenetics (2018)

Article

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

Alejandro Leal, Kathrin Huehne, Finn Bauer, Heinrich Sticht… in neurogenetics (2009)

Article

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous disorder. All mendelian patterns of inheritance have been described. We identified a homozygous p.A335V mutation in the MED25 gene i...

Alejandro Leal, Kathrin Huehne, Finn Bauer, Heinrich Sticht… in neurogenetics (2009)

Article

Grid technology in tissue-based diagnosis: fundamentals and potential developments

Tissue-based diagnosis still remains the most reliable and specific diagnostic medical procedure. It is involved in all technological developments in medicine and biology and incorporates tools of quite differ...

Jürgen Görtler, Martin Berghoff, Gian Kayser, Klaus Kayser in Diagnostic Pathology (2006)