Results 171 to 180 of about 87,393 (252)

Biomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

open access: yesMovement Disorders, EarlyView.
Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen   +27 more
wiley   +1 more source

Metabolic and Volumetric Alterations in the Basal Ganglia and the Cerebellum in Dopa‐Responsive Dystonia in Symptomatic and Asymptomatic GCH1 Mutation Carriers

open access: yesMovement Disorders, EarlyView.
ABSTRACT Background Dopa‐responsive dystonia is caused by pathogenic variants in the GCH1 gene. Although its clinical features and reduced penetrance are known, in vivo metabolic and structural alterations in symptomatic (sMC) and asymptomatic mutation carriers (aMC) remain poorly understood.
Jannik Prasuhn   +12 more
wiley   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles   +5 more
wiley   +1 more source

Prenatal Diagnosis and Management of Kaposiform Hemangioendothelioma With Kasabach–Merritt Phenomenon: Imaging Features and First Experience With Maternal Sirolimus Therapy

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the prenatal diagnosis, evolution, and perinatal management of kaposiform hemangioendothelioma (KHE) complicated by the Kasabach–Merritt phenomenon (KMP), and to report the first documented use of maternal sirolimus therapy (MST) in this setting. Methods We retrospectively reviewed four fetuses with a prenatal soft‐tissue
Antoine Fraissenon   +11 more
wiley   +1 more source

Proteome Analysis of Corynebacterium diphtheriae–Macrophage Interaction

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Contact of Corynebacterium diphtheriae with macrophages induces adaptations on both bacterial and cellular sides. The study presented here was aiming to shed light on the simultaneous intracellular adaptation of the bacteria and changes in the proteome of the phagocytes in response to the internalization of C. diphtheriae.
Luca Musella   +6 more
wiley   +1 more source

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