Results 141 to 150 of about 11,192,485 (343)
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
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
ABSTRACT Objective Prognostication of disease course and prediction of treatment response in multiple sclerosis is an unmet need. We compared the performance of serum neurofilament light chain Z scores (age‐ and BMI‐adjusted) with absolute concentrations for the prediction of response to disease‐modifying therapy.
Maximilian Einsiedler+43 more
wiley +1 more source
Parent–child communication plays a crucial role in children’s healthy growth. Nevertheless, there is currently a paucity of instruments designed to measure the quality of parent–child communication from a psychological perspective.
Wenhui Lyu+3 more
doaj +1 more source
As many patients with inflammatory arthritis (IA) have chronic pain, understanding how to best assess and manage pain in IA is a priority. Comorbid depression is prevalent in adults with IA, affecting 15% to 39% of people. Although pain and depression are thought to be associated in IA, this concept is largely based on cross‐sectional data.
Natasha Cox+3 more
wiley +1 more source
Ten years of the Waikato Journal of Education. [PDF]
The article reports on the 10th volume of 2004 Waikato Journal of Education, a cause for celebration and special comment. The journal's origins are closely linked to the origins of the School of Education at the University of Waikato.
McGee, Clive
core +1 more source
The Origin of Special Education
The article analyses the forces behind the establishment and expansion of special education within the Swedish elementary school between 1842, when schooling became compulsory, and the gradual introduction of the experimental comprehensive school in the 1950s.
openaire +3 more sources
Objective Our objective was to examine the relationship between colchicine plasma concentrations and clinical and demographic factors and to determine the relationship between colchicine concentrations and colchicine efficacy and colchicine‐specific adverse events.
Lisa K. Stamp+8 more
wiley +1 more source
Needs of Families with Gifted Children in Türkiye
Şule DEMIREL DINGEÇ+4 more
doaj +1 more source
Objective Our objective was to explore moderators and mediators influenced changes in pain and function in people with knee osteoarthritis (OA) receiving a new model of primary care service delivery (Optimizing Primary Care Management of Knee Osteoarthritis [PARTNER]), at 12 months (ACTRN: 12617001595303).
Abdolhay Farivar+12 more
wiley +1 more source