[HTML][HTML] Neuromuscular imaging in inherited muscle diseases
MP Wattjes, RA Kley, D Fischer - European radiology, 2010 - Springer
Driven by increasing numbers of newly identified genetic defects and new insights into the
field of inherited muscle diseases, neuromuscular imaging in general and magnetic …
field of inherited muscle diseases, neuromuscular imaging in general and magnetic …
[HTML][HTML] Desminopathies: pathology and mechanisms
CS Clemen, H Herrmann, SV Strelkov… - Acta neuropathologica, 2013 - Springer
The intermediate filament protein desmin is an essential component of the extra-sarcomeric
cytoskeleton in muscle cells. This three-dimensional filamentous framework exerts central …
cytoskeleton in muscle cells. This three-dimensional filamentous framework exerts central …
EFNS guidelines on the diagnostic approach to pauci‐or asymptomatic hyperCKemia
T Kyriakides, C Angelini, J Schaefer… - European journal of …, 2010 - Wiley Online Library
Objective: To provide evidence‐based guidelines to general neurologists for the
assessment of patients with pauci‐or asymptomatic hyperCKemia. Background: Recent …
assessment of patients with pauci‐or asymptomatic hyperCKemia. Background: Recent …
Molecular insights into cardiomyopathies associated with desmin (DES) mutations
A Brodehl, A Gaertner-Rommel, H Milting - Biophysical reviews, 2018 - Springer
Increasing usage of next-generation sequencing techniques pushed during the last decade
cardiogenetic diagnostics leading to the identification of a huge number of genetic variants …
cardiogenetic diagnostics leading to the identification of a huge number of genetic variants …
Desmin‐related myopathy
KY van Spaendonck‐Zwarts, L van Hessem… - Clinical …, 2011 - Wiley Online Library
van Spaendonck‐Zwarts KY, van Hessem L, Jongbloed JDH, de Walle HEK, Capetanaki Y,
van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP. Desmin‐related …
van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP. Desmin‐related …
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience
KY van Spaendonck‐Zwarts… - European journal of …, 2013 - Wiley Online Library
Aims With more than 40 dilated cardiomyopathy (DCM)‐related genes known, genetic
analysis of patients with idiopathic DCM is costly and time‐consuming. We describe the …
analysis of patients with idiopathic DCM is costly and time‐consuming. We describe the …
Myofibrillar myopathies: a clinical and myopathological guide
R Schröder, B Schoser - Brain pathology, 2009 - Wiley Online Library
Myofibrillar myopathies (MFMs) are histopathologically characterized by desmin‐positive
protein aggregates and myofibrillar degeneration. Because of the marked phenotypic and …
protein aggregates and myofibrillar degeneration. Because of the marked phenotypic and …
The p. G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy
P Reilich, B Schoser, N Schramm, S Krause… - Neuromuscular …, 2010 - Elsevier
Mutations in alpha-B crystallin gene (CRYAB) have been described to cause congenital
cataracts, dilated cardiomyopathy and myofibrillar myopathy. For skeletal myopathy, only …
cataracts, dilated cardiomyopathy and myofibrillar myopathy. For skeletal myopathy, only …
[HTML][HTML] State of the art review on genetics and precision medicine in arrhythmogenic cardiomyopathy
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterised by
ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous …
ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous …
[HTML][HTML] The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3
A Brodehl, C Hain, F Flottmann, S Ratnavadivel… - Biomedicines, 2021 - mdpi.com
Currently, little is known about the genetic background of restrictive cardiomyopathy (RCM).
Herein, we screened an index patient with RCM in combination with atrial fibrillation using a …
Herein, we screened an index patient with RCM in combination with atrial fibrillation using a …