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
Concentric Versus Eccentric Exercise-Induced Fatigue on Proprioception, Motor Control and Performance of the Upper Limb in Handball Players: A Retrospective Study. [PDF]
Life (Basel)Hadjisavvas S +3 more
europepmc +1 more source
Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle +4 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou +16 more
wiley +1 more source
LPLAT10/LPEAT2 produces atypical phospholipids with an unsaturated FA at the sn-1 position. [PDF]
J Lipid ResKawana H +9 more
europepmc +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
Autosomal dominant inheritance of a heterozygous mutation in HTRA1: A case report and literature review. [PDF]
Medicine (Baltimore)Shu J, Li J.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
Engineering and Exploiting Self-Driven Domain Wall Motion in Ferrimagnets for Neuromorphic Computing Applications. [PDF]
Nano LettBrock JA +4 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller +14 more
wiley +1 more source