Results 221 to 230 of about 1,449,664 (357)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó   +17 more
wiley   +1 more source

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang   +7 more
wiley   +1 more source

Advocacy in Ideas: Legal Education and Social Movements [PDF]

open access: yes, 2018
Bell, Monica   +3 more
core   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer   +11 more
wiley   +1 more source

Understanding Contributors of Resilience in Youth With Childhood‐Onset Systemic Lupus Erythematosus Through a Socioecological Lens: A Mixed‐Methods Study

open access: yesArthritis Care &Research, EarlyView.
Objective This study aimed to identify themes contributing to resilience in childhood‐onset systemic lupus erythematosus (cSLE), distinguish between profiles of resilience, and examine how they relate to underlying themes and patient characteristics. Methods We conducted a mixed‐methods study of 21 patients with cSLE aged 11 to 19 years at a Canadian ...
Isabella Zaffino   +12 more
wiley   +1 more source

A. Memou, Photography and social movements

open access: yesTijdschrift voor Mediageschiedenis, 2014
Vries, Tity de
doaj   +1 more source

Home - About - Disclaimer - Privacy