Uncategorized

admin June 15, 2019

Abstract

Background

Progressive supranuclear palsy is a neurodegenerative tauopathy manifesting clinically as a progressive akinetic‐rigid syndrome. In this study, we sought to identify genetic variants influencing PSP susceptibility through a genome‐wide association analysis of a cohort of well‐characterized patients who had participated in the Neuroprotection and Natural History in Parkinson Plus Syndromes and Blood Brain Barrier in Parkinson Plus Syndromes studies.… Read More...

admin June 15, 2019

Objective

To explore the neuropsychological correlates and implications of familial hemiplegic migraines (FHMs).

Background

FMH is a rare, autosomal dominant subtype of migraine that only occurs in 0.01% of the population. Little is known about the neuropsychological impact of FHMs; however, cognitive impairment associated with cerebellar syndrome has been identified in some cases.… Read More...

admin January 10, 2019

Background: The short-term risk of ischemic stroke in patients with left ventricular (LV) thrombus identified via delayed-enhancement cardiac magnetic resonance (DE-CMR) imaging is uncertain. Methods: We performed a retrospective cohort study of patients who underwent DE-CMR for evaluation of LV systolic dysfunction at NewYork-Presbyterian Hospital/Weill Cornell between 2007 and 2016.… Read More...

admin September 6, 2018

Limb-girdle muscular dystrophy type 1D (LGMD1D) is caused by dominant mutations in DNAJB6. This ubiquitously expressed co-chaperone interacts with the HSPA (Hsp70) chaperones and promotes their function, and also acts as a powerful suppressor or protein aggregation. Until recently, all of the known LGMD1D-causing mutations in DNAJB6 were located relatively close to each other within the glycine/phenylalanine-rich (GF) domain of the protein.… Read More...

admin September 6, 2018

Muscle cells are characterized by the presence of multiple nuclei evenly spaced under the plasma membrane. Whether this particular arrangement is required for muscle function is still under debate. Nonetheless, several muscular diseases are characterized by abnormal nuclear positioning, such as centronuclear myopathies, titinopathies and desminopathies or due to mutations of nuclear envelope proteins known to be involved in nuclear movement in other systems.… Read More...

admin September 6, 2018

Evidence from controlled clinical trials has established IVIG as a first line therapy for inflammatory autoimmune neuropathies such as Guillain-Barre syndrome (GBS), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and multifocal motor neuropathy (MMN). Several infusion-related reactions are well documented in the literature, including common reactions such as headache, myalgia and chills.… Read More...

Andoird App
Loading...