Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
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
Association Between Visual Search Performance and Eye-Hand Coordination in School-Aged Children. [PDF]
Sudo D.
europepmc +1 more source
THE “ARM-DROP” TEST AND THE PRIMING PRINCIPLE
openaire +2 more sources
Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro +6 more
wiley +1 more source
Gender-Based Variations in Navicular Drop and Foot Morphometry Among North Indian Adults: Implications for Foot Biomechanics and Clinical Assessment. [PDF]
Sharma R +3 more
europepmc +1 more source
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
Comprehensive Treatment and Monthly 2 Year Follow-Up in Children With ADHD: Randomized Controlled Prospective Study. [PDF]
Hechtman L +8 more
europepmc +1 more source
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
Modulation of Total Corneal Astigmatism, Corneal Thickness, and Corneal Higher-Order Aberrations Following Tear-Enhancing Drop Instillation: A Retrospective Comparative Study. [PDF]
Sarnat-Kucharczyk M +4 more
europepmc +1 more source
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay +13 more
wiley +1 more source

