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Akademický článek

Needle EMG induced muscle bleeding complication after guideline approved discontinuation of anticoagulation

Autor: Michael Bartl, Arne Krahn, Joachim Riggert, Walter Paulus

Publikováno v: Clinical Neurophysiology Practice, Vol 6, Iss , Pp 109-114 (2021)

Introduction: Needle electromyography (EMG) is an essential part of electrodiagnosis (EDX) in neuromuscular disorders. As in all invasive procedures there is a risk of bleeding complications, but which is rare according to the current literature. Con

Externí odkaz: https://doaj.org/article/cd3f6c887f004db287e9ce604ace61dc

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A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns

Autor: Barbara A. K. Kreilkamp, Walter Paulus, Erik H. U. Rauf, Arne Krahn, Ev-Christin Heide, Oliver Puk, Niels K. Focke, Saskia Biskup

Publikováno v: American Journal of Medical Genetics Part A. 185:3838-3843

Pathogenic variants in HECW2 are extremely rare. So far, only 19 cases have been reported. They were associated with epilepsy, intellectual disability, absent language, hypotonia, and autism. As these cases were all de novo mutations, mostly presenti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c084d276497b53410e898ed49bcb9e2f
https://doi.org/10.1002/ajmg.a.62427

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