Results 121 to 130 of about 129,119 (300)
American Journal of Industrial Medicine, EarlyView.ABSTRACT Giovanni Antonio Scopoli (1723–1788), a physician‐naturalist of the Enlightenment, is primarily remembered for his contributions to botany and entomology. Less attention has been paid to his medical work De hydrargyro Idriensi Tentamina physico‐chymico‐medica (1761), written during his fifteen years of service as physician at the mercury mines
Alberto Zanatta +3 more
wiley +1 more source
Pharmacotherapy of Essential Tremor
, 2013 Essential tremor (ET) is a common movement disorder but its pathogenesis remains poorly understood. This has limited the development of effective pharmacotherapy.
František Cibulcík +2 more
core +1 more source
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad +7 more
wiley +1 more source
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source
Resting and action tremor in Parkinson’s disease: pathophysiological insights from long-term STN-DBS
npj Parkinson's DiseaseTremor is a well-recognized sign of Parkinson’s disease (PD), yet its long-term evolution remains unclear, particularly regarding the relationship between resting and action tremor.
Alessandro Zampogna +11 more
doaj +1 more source
Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert +4 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.At the genomic level, a large number of differentially expressed genes (DEGs) and aging‐related DEGs have been screened. Ten hub genes, such as IFNγ and IRF7, have been identified and shown potential value in the diagnosis of PD, holding promise as novel biomarkers to facilitate early and precise diagnosis.
Haojie Wu +3 more
wiley +1 more source
Anatomical Sciences Education, EarlyView.Abstract Virtual reality (VR) offers new possibilities for anatomy education through immersive and embodied interaction. Early‐stage evaluation of VR tools is necessary to assess user experience and perceived cognitive load and to guide iterative development.
Mélanie Gallot +4 more
wiley +1 more source