Results 151 to 160 of about 1,518,515 (337)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source
What is Integrated Information Theory a Theory Of? [PDF]
In the first instance, IIT is formulated as a theory of the physical basis of the 'degree' or ‘level’ or ‘amount’ of consciousness in a system. I raise a series of questions about the central explanatory target, the 'degree' or ‘level’ or ‘amount’ of ...
Pautz, Adam
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source
The Case of a 25‐Year‐Old Woman With Isolated Head Tremor
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study reported a 25‐year‐old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647‐16082del).
Ying Zhao +5 more
wiley +1 more source
Clinical Characteristics and Outcomes of Early‐Onset Versus Late‐Onset LGI1‐Antibody Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Leucine‐rich glioma‐inactivated 1 antibody (LGI1‐Ab) encephalitis predominantly affected older individuals, but has also been reported in younger patients. However, the demographic, clinical, and prognostic characteristics of early‐onset LGI1‐Ab encephalitis have yet to be systematically elucidated. This study aims to systematically
Yu Kong +7 more
wiley +1 more source
A Case with Loss of Consciousness and Respiratory Arrest Following Retrobulbar Anesthesia
, 2015 Rieko Nakamura +5 more
openalex +2 more sources
Towards a New Assessment Tool for Caregivers of Patients with Disorders of Consciousness: The Social and Family Evaluation Scale (SAFE) [PDF]
, 2022 Davide Sattin +3 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin +6 more
wiley +1 more source
RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno +13 more
wiley +1 more source