Results 261 to 270 of about 580,671 (347)

Cerebral blood flow increases in idiopathic generalized epilepsy and its relationship with mood dysfunction. [PDF]

open access: yesEpilepsia Open
Lien Y   +10 more
europepmc   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp   +7 more
wiley   +1 more source

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

open access: yesAnnals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias   +23 more
wiley   +1 more source

Using the latent diffusion model to enhance time-resolved laser speckle contrast imaging (TR-LSCI) of cerebral blood flow. [PDF]

open access: yesBiomed Opt Express
Fathi F   +8 more
europepmc   +1 more source

Persisting Transglutaminase 6 Antibodies in Neurological Gluten‐Related Disorders

open access: yesAnnals of Neurology, EarlyView.
Objective Gluten‐related autoimmunity can cause neurological disease, although the best way to diagnose and monitor such patients is unclear. Serological testing for antibodies against transglutaminase 6 (TG6) has been proposed; however, this is not widely available in clinical practice.
Iain D. Croall   +6 more
wiley   +1 more source

Respiratory influence on cerebral blood flow and blood volume - A 4D flow MRI study. [PDF]

open access: yesJ Cereb Blood Flow Metab
Söderström P   +7 more
europepmc   +1 more source

Clinical–Radiological Spectrum of Cerebral Amyloid Angiopathy‐Related Inflammation

open access: yesAnnals of Neurology, EarlyView.
Objective To identify clinical and radiological features of cerebral amyloid angiopathy‐related inflammation (CAA‐ri), and compare these features with those of sporadic CAA, to improve the understanding, diagnosis, and clinical care of CAA‐ri. Methods We retrospectively reviewed routine clinical data from 37 patients with CAA‐ri and 158 patients with ...
Larysa Panteleienko   +9 more
wiley   +1 more source

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