GRIN Consortium. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am J Hum Genet . 2019 Jun 6;104(6):1060-1072. doi: 10 [...] Hjalgrim H, Lerche H, Beniczky S, Weber Y . Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol . 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Schubert J, Siekierska [...] Crawford AD, Esguerra CV, Weber Y *, Lerche H*. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet . 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. *
activated position (metaphorically illustrated here by magnets). Thus, the Q875E mutation is likely to cause hyperexcitability and pain. This interaction between two chanal domains is probably the structural
fibres respond differently to damage. C-fibre dysfunction in neuropathic pain Neuropathic pain is pain caused by damage to the sensory nervous system such as in diabetic polyneuropathy or so-called "small fiber [...] has yet been found. We are studying patients with neuropathic pain due to SFN, diabetes or genetic causes of nerve pain to find out how these thin peripheral nerve fibres contribute to the symptoms of over [...] itch whose dysfunction contributes to chronic itch. These data will allow us to identify overarching cause-specific mechanisms of chronic itch and, through understanding, lead to new therapies.
to the bone and the cartilage that covers the ends of bones in articulating joints. These defects cause pain and limited mobility. Current treatments for these defects often have limited success rates.
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis setzten sich die Medizinerin und das Forschungsteam mit SP
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis setzten sich die Medizinerin und das Forschungsteam mit SP
alloy Ti6Al4V is used. However, clinical failure of metal implants still occurs frequently. The major cause for this is the so-called aseptic loosening of the implant. An improvement of the osseointegration
The working groups at IMCAR deal with questions that should contribute to the clarification of the cause of the genesis and progression of cardiovascular diseases. Within the framework of the Institute's
and mortality. For example, aspiration pneumonia due to dysphagia has been reported as the leading cause of death in HD. Despite its high prevalence, there is still a lack of evidence regarding the management [...] ominantly inherited disease. Approximately 10.000 individuals in Germany are affected. While the cause – a pathologically increased number of CAG repeats within the Huntingtin gene – has been identified
TRANSLATE NAMSE. The aim of the project was to find the cause of the disease in as many patients as possible using innovative examination methods. A genetic cause of the rare disease was identified in 499 patients [...] The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic diagnosis