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Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome
Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M, Bichse...
Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus
Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus
Forbes PA, Chen A, Blouin JS (2018) Sensorimotor control of standing balance. Handb Clin Neurol 159:61–83. https://doi.org...
Impacts of exposure to ambient temperature and altitude on the burden of stroke
Impacts of exposure to ambient temperature and altitude on the burden of stroke
To evaluate the impact of ambient temperature and altitude exposure on the burden of stroke in a Chinese cohort. This stud...
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients
Leukodystrophy with vanishing white matter (LVWM) is an autosomal recessive disease with typical pediatric-onset caused by...
Presymptomatic grey matter alterations in ALS kindreds: a computational neuroimaging study of asymptomatic C9orf72 and SOD1 mutation carriers
Presymptomatic grey matter alterations in ALS kindreds: a computational neuroimaging study of asymptomatic C9orf72 and SOD1 mutation carriers
The characterisation of presymptomatic disease-burden patterns in asymptomatic mutation carriers has a dual academic and c...
Diagnostic and prognostic performance of plasma neurofilament light chain in multiple system atrophy: a cross-sectional and longitudinal study
Diagnostic and prognostic performance of plasma neurofilament light chain in multiple system atrophy: a cross-sectional and longitudinal study
The longitudinal dynamics of neurofilament light chain (NfL) in multiple system atrophy (MSA) were incompletely illuminate...
Prognostic performance of blood neurofilament light chain protein in hospitalized COVID-19 patients without major central nervous system manifestations: an individual participant data meta-analysis
Prognostic performance of blood neurofilament light chain protein in hospitalized COVID-19 patients without major central nervous system manifestations: an individual participant data meta-analysis
To investigate the prognostic value of blood neurofilament light chain protein (NfL) levels in the acute phase of coronavi...
Dynamic changes of the direction and angle of radiographic ocular lateral deviation in patients with lateropulsion after stroke onset
Dynamic changes of the direction and angle of radiographic ocular lateral deviation in patients with lateropulsion after stroke onset
To examine if radiographic ocular lateral deviation (rOLD) could be provoked in stroke patients with mild-to-moderate late...
Image features of anti-SEZ6L2 encephalitis, a rare cause of ataxia and parkinsonism
Image features of anti-SEZ6L2 encephalitis, a rare cause of ataxia and parkinsonism
Landa J, Guasp M, Petit-Pedrol M et al (2021) Seizure-related 6 homolog like 2 autoimmunity: neurologic syndrome and antib...
Prediction of underlying atrial fibrillation in patients with a cryptogenic stroke: results from the NOR-FIB Study
Prediction of underlying atrial fibrillation in patients with a cryptogenic stroke: results from the NOR-FIB Study
Atrial fibrillation (AF) detection and treatment are key elements to reduce recurrence risk in cryptogenic stroke (CS) wit...
Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review
Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review
Phenylketonuria (PKU) is the most prevalent congenital disease of amino acid metabolism. Neurological manifestations usual...
Large diameter hemicraniectomy does not improve long-term outcome in malignant infarction
Large diameter hemicraniectomy does not improve long-term outcome in malignant infarction
In malignant cerebral infarction decompressive hemicraniectomy has demonstrated beneficial effects, but the optimum size o...
Correction to: Gender differences in microRNA expression in levodopa‑naive PD patients
Correction to: Gender differences in microRNA expression in levodopa‑naive PD patients
A. Vallelunga and T. Iannitti contributed equally to the paper.Department of Life Sciences and Biotechnologies, Section of...
Optic neuritis and MOGAD
Optic neuritis and MOGAD
Authors and AffiliationsDepartment of Neurology, University Hospital of Wales, Heath Park, Cardiff, CF14 4XN, UKZ. M. Htet...
Ordering genetic testing by neurologists: points to consider
Ordering genetic testing by neurologists: points to consider
A significant challenge limiting the comprehensive utilization of genomic medicine is the lack of timely access to genetic...
Microvascular involvement in migraine: an optical coherence tomography angiography study
Microvascular involvement in migraine: an optical coherence tomography angiography study
The aim of this study was to evaluate the microvasculature of the macula and the optic nerve in patients affected by migra...
Memory-guided navigation in amyotrophic lateral sclerosis
Memory-guided navigation in amyotrophic lateral sclerosis
Previous studies have yielded inconsistent results about hippocampal involvement in non-demented patients with amyotrophic...
RNA interference in late-stage hereditary transthyretin amyloidosis: a clinicopathological study
RNA interference in late-stage hereditary transthyretin amyloidosis: a clinicopathological study
Ando Y, Adams D, Benson MD et al (2022) Guidelines and new directions in the therapy and monitoring of ATTRv amyloidosis. ...
Correction to: The potential value of disease-modifying therapy in patients with spinocerebellar ataxia type 1: an early health economic modeling study
Correction to: The potential value of disease-modifying therapy in patients with spinocerebellar ataxia type 1: an early health economic modeling study
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which ...
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD): current understanding and challenges
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD): current understanding and challenges
New diagnostic criteria for myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) have recently been pro...
Identifying novel genes for amyotrophic lateral sclerosis by integrating human brain proteomes with genome-wide association data
Identifying novel genes for amyotrophic lateral sclerosis by integrating human brain proteomes with genome-wide association data
Genome-Wide Association Studies (GWAS) have identified numerous risk genes for Amyotrophic Lateral Sclerosis (ALS); howeve...
Equating norms between the ALS Cognitive Behavioral Screen (ALS-CBS™) and the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) in non-demented ALS patients
Equating norms between the ALS Cognitive Behavioral Screen (ALS-CBS™) and the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) in non-demented ALS patients
The present study aimed at deriving equating norms to estimate scores on the Edinburgh Cognitive and Behavioural ALS Scree...
Cortical involvement in essential tremor with and without rest tremor: a machine learning study
Cortical involvement in essential tremor with and without rest tremor: a machine learning study
There is some debate on the relationship between essential tremor with rest tremor (rET) and the classic ET syndrome, and ...
PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients
PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients
Di Blasi C, Moghadaszadeh B, Ciano C, Negri T, Giavazzi A, Cornelio F, Morandi L, Mora M (2004) Abnormal lysosomal and ubi...
Neuromyelitis optica spectrum disorder with a familial Mediterranean fever gene E84K mutation
Neuromyelitis optica spectrum disorder with a familial Mediterranean fever gene E84K mutation
Elhani I, Dumont A, Vergneault H, Ardois S, Le Besnerais M, Levesque H et al (2021) Association between familial Mediterra...
Genetic characterization of primary lateral sclerosis
Genetic characterization of primary lateral sclerosis
Primary lateral sclerosis (PLS) is a motor neuron disease characterised by loss of the upper motor neurons. Most patients ...
The expanding spectrum of antibody-associated cerebellar ataxia: report of two new cases of anti-AP3B2 ataxia
The expanding spectrum of antibody-associated cerebellar ataxia: report of two new cases of anti-AP3B2 ataxia
Conflicts of interest The authors declare that they have no conflic...
Decreased aperiodic neural activity in Parkinson’s disease and dementia with Lewy bodies
Decreased aperiodic neural activity in Parkinson’s disease and dementia with Lewy bodies
Neural oscillations and signal complexity have been widely studied in neurodegenerative diseases, whereas aperiodic activi...
Gadolinium contrast agents: dermal deposits and potential effects on epidermal small nerve fibers
Gadolinium contrast agents: dermal deposits and potential effects on epidermal small nerve fibers
Small fiber neuropathy (SFN) affects unmyelinated and thinly myelinated nerve fibers causing neuropathic pain with distal ...
Self-reported life-space mobility in the first year after ischemic stroke: longitudinal findings from the MOBITEC-Stroke project
Self-reported life-space mobility in the first year after ischemic stroke: longitudinal findings from the MOBITEC-Stroke project
Life-space mobility is defined as the size of the area in which a person moves about within a specified period of time. Ou...
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