Results 81 to 90 of about 2,698,776 (289)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao   +34 more
wiley   +1 more source

High-resolution investigation of spinal cord and spine [PDF]

open access: yesarXiv, 2017
High-resolution non-invasive 3D study of intact spine and spinal cord morphology on the level of complex vascular and neuronal organization is a crucial issue for the development of treatments for the injuries and pathologies of central nervous system (CNS). X-ray phase contrast tomography enables high quality 3D visualization in ex-vivo mouse model of
arxiv  

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs   +8 more
wiley   +1 more source

Claustrum Volume Is Reduced in Multiple Sclerosis and Predicts Disability

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The claustrum is a small, thin structure of predominantly gray matter with broad connectivity and enigmatic function. Little is known regarding the impact of claustrum pathology in multiple sclerosis (MS). Methods This study assessed whether claustrum volume was reduced in MS and whether reductions were associated with specific ...
Nicole Shelley   +5 more
wiley   +1 more source

Music Interventions in Hyperacute and Acute Stroke Patients: A Randomized Controlled Pilot Feasibility Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Music interventions have been shown to have beneficial effects on hemodynamic parameters, pain, and anxiety in various medical settings. However, music interventions in the setting of acute stroke have not been studied. The objective of this trial was to perform a pilot feasibility study of music interventions in the setting of acute
Jeffrey J. Fletcher   +7 more
wiley   +1 more source

The Impact of In‐Hospital Disease Modifying Treatments on Mental and Physical Burden in Caregiver of Patients With MS

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with multiple sclerosis (pwMS) may require a high level of daily assistance both for indoor and outdoor activities. Usually, relatives or friends provide daily support to MS patients who have lost personal autonomy. Several factors such as disability level and disease duration may affect the burden of care in caregivers of ...
Giuseppe Schirò   +9 more
wiley   +1 more source

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