Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
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
Correlates of Rehabilitation Length of Stay in Asian Traumatic Brain Injury Inpatients in a Superaged Country: A Retrospective Cohort Study. [PDF]
Chua KSG, Cheong ZJ, Yee E, Krishnan RR.
europepmc +1 more source
NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
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
Association of monocyte to lymphocyte ratio with length of stay in intensive care unit in neonatal apnea modified by treatment. [PDF]
Chen J, Han F.
europepmc +1 more source
Predictive models for mortality and length of hospital stay in an Egyptian burns centre
Amani Attia
openalex +1 more source
Complications, hospital length of stay, and readmission after total laryngectomy
R. Goepfert+8 more
semanticscholar +1 more source
Central Dysmyelination in SSADH‐Deficient Humans and Mice
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
Shortening emergency department length of stay: Fast track, short-stay unit and acute medical unit. [PDF]
Huang B.
europepmc +1 more source