Results 41 to 50 of about 179,508 (249)
Differences in pain perception during open muscle biopsy and Bergstroem needle muscle biopsy
Journal of Pain Research, 2014 Julius Dengler,1 Peter Linke,2 Hans J Gdynia,3 Stefan Wolf,1 Albert C Ludolph,3 Peter Vajkoczy,1 Thomas Meyer2 1Department of Neurosurgery, 2Department of Neurology, Charité – Universitätsmedizin Berlin, Berlin, Germany; 3Department of ...
Dengler J +6 more
doaj
Myositis associated with localized lipodystrophy: an unrecognized condition?
European Journal of Medical Research, 2009 Lipodystrophies represent a heterogeneous group of diseases characterized by altered body fat repartition and often metabolic alterations.
Gdynia H-J +5 more
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane +19 more
wiley +1 more source
Development of a Non-invasive Methodology for the Assessment of Muscle Fibre Composition
Frontiers in Physiology, 2019 The percentage area of fast twitch fibres of a muscle is a major determinant of muscle mechanical power and, thus, an important biomarker for the evaluation of training processes.
Tobias Winkler +8 more
doaj +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin +8 more
wiley +1 more source