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

Annals 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

Optimizing wind-PV-battery microgrids for sustainable and resilient residential communities. [PDF]

Sci Rep
Mishra J, Shankar A.
europepmc +1 more source

Distributed Generation Potential of the U.S. CommercialSector

, 2005
Kristina Hamachi LaCommare +3 more
openalex +1 more source

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals 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

Multi objective moth swarm algorithm for optimizing electric vehicle integration in distribution grids. [PDF]

Sci Rep
Azadikhouy M.
europepmc +1 more source

Development of AI Based Fibrosis Detection Algorithm by SHG/TPEF Microscopy for Fully Quantified Liver Fibrosis Assessment in MASH. [PDF]