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
The transfer process from child and adolescent mental health services to adult mental health services for patients with childhood-onset neurodevelopmental disorders: first case-control study from Türkiye. [PDF]
BJPsych OpenKaraçam Doğan M +4 more
europepmc +1 more source
Contract Public Health Services for Rural Counties—A New Approach to an Old Problem
, 1957 John C. Dement, George F. O’Brien
openalex +2 more sources
Central Dysmyelination in SSADH‐Deficient Humans and Mice
Annals 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
From handbooks to platforms: Japan's maternal and child health services in the digital era. [PDF]
J Glob HealthImoto N, Hayashi M.
europepmc +1 more source
The Health Department's Responsibility for Providing Nutrition Services to Institutions
, 1954 Ralph E. Dwork
openalex +2 more sources
Public Health and Poor-Law Medical Services [PDF]
, 1894 O ji sal, Anton Loeff
openalex +1 more source
Race, health, and health services. [PDF]
American Journal of Public Health, 1993 openaire +3 more sources
Efgartigimod Combined With Steroid Treatment for HAM/TSP: A Case Report
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT HTLV‐1‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive neurological disorder with limited treatment options. We report a 54‐year‐old female with decade‐long, progressive HAM/TSP, previously refractory to rituximab, who experienced worsening spastic paraparesis and neurogenic bladder dysfunction.
Jiahui Zeng +5 more
wiley +1 more source