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Patterns of Tau pathology in patients with anti-IgLON5 disease visualized by Florzolotau (18F) PET
Patterns of Tau pathology in patients with anti-IgLON5 disease visualized by Florzolotau (18F) PET
Anti-IgLON5 disease is a rare autoimmune neurological disorder with prominent Tau protein deposits in the brainstem and hy...
AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia
AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia
AP4 is an adaptor protein crucial for vesicle and endosomal trafficking from the trans-Golgi network consisting of four su...
Respiratory failure as main presentation sign of MAPT-related disorder
Respiratory failure as main presentation sign of MAPT-related disorder
The MAPT gene encodes Tau, a protein mainly expressed by neurons. Tau protein plays an important role in cerebral microtub...
Brain tissue integrity in neuromyelitis optica spectrum disorder through T1-w/T2-w ratio, MTR and DTI
Brain tissue integrity in neuromyelitis optica spectrum disorder through T1-w/T2-w ratio, MTR and DTI
The presence of diffuse brain damage in normal-appearing white matter (NAWM) and gray matter (NAGM) in neuromyelitis optic...
Audiovisual analysis of the diagnostic video polysomnography in patients with isolated REM sleep behavior disorder
Audiovisual analysis of the diagnostic video polysomnography in patients with isolated REM sleep behavior disorder
The diagnosis of isolated REM sleep behavior disorder (IRBD) requires video polysomnography (V-PSG) showing increased musc...
Benefits of a 12-week psychotherapy course for people with Parkinson’s disease: a service improvement project
Benefits of a 12-week psychotherapy course for people with Parkinson’s disease: a service improvement project
The psychological symptoms of Parkinson’s disease (PD) worsen the quality of life of patients and their partners. Ho...
Retrospective discrimination of PNES and epileptic seizure types using blood RNA signatures
Retrospective discrimination of PNES and epileptic seizure types using blood RNA signatures
The ability to differentiate epileptic- and non-epileptic events is challenging due to a lack of reliable molecular seizur...
Cognitive changes and brain structural abnormalities in female carriers of DMD pathogenic variants
Cognitive changes and brain structural abnormalities in female carriers of DMD pathogenic variants
Skeletal and cardiac muscle damage have been increasingly recognized in female carriers of DMD pathogenic variants (DMDc)....
Autoimmune cerebellar ataxia associated with anti-SEZ6L2 antibody: report of three cases
Autoimmune cerebellar ataxia associated with anti-SEZ6L2 antibody: report of three cases
Qiu WQ, Luo S, Ma SA, Saminathan P, Li H, Gunnersen JM, Gelbard HA, Hammond JW (2021) The Sez6 family inhibits complement ...
Armand de Watteville (1846–1925)
Armand de Watteville (1846–1925)
Casper ST (2014) The neurologists. A history of a medical specialty in modern Britain, c.1789–2000. Manchester University ...
Peripheral neuropathy in neuronal intranuclear inclusion disease: a clinical and electrophysiological cross-sectional study
Peripheral neuropathy in neuronal intranuclear inclusion disease: a clinical and electrophysiological cross-sectional study
Neuronal intranuclear inclusion disease (NIID) is a multifaceted disorder impacting both the central and peripheral nervou...
Balance recovery and its link to vestibular agnosia in traumatic brain injury: a longitudinal behavioural and neuro-imaging study
Balance recovery and its link to vestibular agnosia in traumatic brain injury: a longitudinal behavioural and neuro-imaging study
Vestibular dysfunction causing imbalance affects c. 80% of acute hospitalized traumatic brain injury (TBI) cases. Poor bal...
eHealth tools to assess the neurological function for research, in absence of the neurologist: a systematic review, part II (hardware)
eHealth tools to assess the neurological function for research, in absence of the neurologist: a systematic review, part II (hardware)
Neurological disorders pose a substantial burden worldwide in healthcare and health research. eHealth has emerged as a pro...
Diagnosis of hereditary ataxias: a real-world single center experience
Diagnosis of hereditary ataxias: a real-world single center experience
This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world...
Plasma alpha-synuclein predicts cognitive impairment in Parkinson’s disease: a systematic review and meta-analysis
Plasma alpha-synuclein predicts cognitive impairment in Parkinson’s disease: a systematic review and meta-analysis
Alpha-synuclein (ɑ-syn) plays a key role in Parkinson’s disease (PD) pathogenesis, but existing studies have fo...
Ray W. Fuller (1935–1996)
Ray W. Fuller (1935–1996)
Fuller RW, Wong DT, Robertson DW (1991) Fluoxetine, a selective inhibitor of serotonin uptake. Med Res Rev 11:17–34Article...
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy
Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key r...
Ocrelizumab dose selection for treatment of pediatric relapsing–remitting multiple sclerosis: results of the OPERETTA I study
Ocrelizumab dose selection for treatment of pediatric relapsing–remitting multiple sclerosis: results of the OPERETTA I study
The presented study identified the appropriate ocrelizumab dosing regimen for patients with pediatric-onset multiple scler...
Temporal lobe epilepsy with isolated amygdala enlargement: anatomo-electro-clinical features and long-term outcome
Temporal lobe epilepsy with isolated amygdala enlargement: anatomo-electro-clinical features and long-term outcome
Temporal lobe epilepsy with isolated amygdala enlargement (TLE-AE) still lacks a definite characterization and controversi...
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses
The neuronal ceroid lipofuscinoses (NCLs) are incurable pediatric neurodegenerative diseases characterized by accumulation...
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies
Distal myopathies (MPDs) are heterogeneous diseases of complex diagnosis whose prevalence and distribution in specific pop...
Factors behind poor cognitive outcome following a thalamic stroke
Factors behind poor cognitive outcome following a thalamic stroke
Thalamic strokes produce neurological, cognitive, and behavioral symptoms depending on the thalamic nuclei involved. While...
Implementing proximity care for people with multiple sclerosis in Italy: the bottom-up approach of the StayHome project
Implementing proximity care for people with multiple sclerosis in Italy: the bottom-up approach of the StayHome project
In Italy, around 137,000 people live with multiple sclerosis, facing organizational complexities due to the current model&...
Seizures and status epilepticus in anti-NMDA receptor encephalitis
Seizures and status epilepticus in anti-NMDA receptor encephalitis
Seizures, including status epilepticus (SE), are common in anti-NMDA receptor encephalitis (NMDARE). We aimed to describe ...