Abstract：
:Genetic linkage studies were performed in 12 British families with von Hippel-Lindau disease (VHL) using RFLPs at three loci (DNF15S2, THRB, RAF1) on the short arm of chromosome 3. Linkage was detected between the VHL disease locus and RAF1 with a maximum lod score of 3.88 at a recombination fraction of 0.05 (confidence interval 0.003-0.18). Multipoint linkage analysis suggested that the most likely location for the VHL disease locus is telomeric to THRB. These results confirm earlier reports localizing the VHL gene to the short arm of chromosome 3, and provide no evidence for genetic heterogeneity.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Maher ER,Bentley E,Yates JR,Barton D,Jennings A,Fellows IW,Ponder MA,Ponder BA,Benjamin C,Harris Rdoi
10.1016/0022-510x(90)90008-bsubject
Has Abstract,Author List Incompletepub_date
1990-12-01 00:00:00pages
27-30issue
1-2eissn
0022-510Xissn
1878-5883pii
0022-510X(90)90008-Bjournal_volume
100pub_type
杂志文章abstract：:Possible changes in brain metabolites in motor neurone disease/amytrophic lateral sclerosis (MND/ALS) were investigated using 1H magnetic resonance spectroscopy (MRS). A series of normal, healthy volunteer controls and MND patients have been studied using a spin echo (SE) 135 ms sequence, acquiring spectra from the re...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/0022-510x(95)00072-a
更新日期：1995-05-01 00:00:00
abstract：:The rat double-SAH model is one of the standard models to simulate delayed cerebral vasospasm (CVS) in humans. However, the proof of delayed ischemic brain damage is missing so far. Our objective was, therefore, to determine histological changes in correlation with the development of symptomatic and perfusion weighted...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.03.023
更新日期：2010-06-15 00:00:00
abstract：:We ascertained two families in Eastern Canada segregating a form of ataxia consistent with a recessive mode of inheritance. We performed a whole genome scan using dense SNP genotyping, and despite an absence of shared homozygosity in the families we defined linkage to a small region on chromosome 13. Direct DNA resequ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.09.034
更新日期：2010-01-15 00:00:00
abstract：:The choice of dopaminergic therapy in early Parkinson disease (PD) is an important clinical decision, yet factors influencing this decision have not been extensively studied. We sought to investigate the factors that may be associated with the choice of dopaminergic therapy at the NINDS Exploratory Trials in PD (NET-P...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/j.jns.2016.04.021
更新日期：2016-07-15 00:00:00
abstract：:In previous work we demonstrated little effect of aging on the density and spatial pattern of epidermal innervation, however, this was restricted to two sites proximal and distal in the leg. To expand on these observations, we used punch skin biopsy in ten healthy controls to examine the variation in intra-epidermal n...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00063-5
更新日期：1999-04-01 00:00:00
abstract：:Clinical manifestations, outcomes, prognostic indicators, and clinico-epidemiological subgroups were described based on the information of 71 patients with Guillain-Barré syndrome (GBS), who were identified from a prospective survey in Harbin, China during a 1-year period from 1 October 1997 to 30 September 1998. GBS ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(03)00187-4
更新日期：2003-11-15 00:00:00
abstract：:The activation-flow coupling describes a mechanism, which adapts local cerebral blood flow in accordance with the underlying neuronal activity. It was suggested that the mechanism helps in differentiation between Alzheimer and vascular type of dementia. We combined EEG and Doppler techniques and assessed integrity of ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.01.032
更新日期：2007-06-15 00:00:00
abstract：:In the last two decades functional magnetic resonance imaging (fMRI) has dominated research in neuroscience. However, only recently has it taken the first steps in translation to the clinical field. In this paper we describe the advantages of fMRI and DTI and the possible benefits of implementing these methods in clin...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2011.07.040
更新日期：2012-01-15 00:00:00
abstract：:We report two patients displaying hyperintensities on diffusion-weighted imaging (DWI) in the area of Wallerian degeneration (WD) at 12 days after stroke. High signal intensities were more conspicuous on DWI than on T2-weighted images. Both patients showed decreased diffusion anisotropy resulting in elevated apparent ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(00)00373-7
更新日期：2000-09-15 00:00:00
abstract：:Complex I is the largest of the mitochondrial respiratory chain proteins, and contains subunits encoded by both mitochondrial and nuclear genomes. Leber's hereditary optic neuropathy has been clearly linked to mutations of mitochondrial DNA complex I genes, and variable complex I functional defects have been reported....
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00088-x
更新日期：1999-05-01 00:00:00
abstract：:Diabetic nerve reveals a peculiar paradox between its physiological resistance to ischemia, in conducting impulses for longer than control nerve during ischemia, and its morphological liability to more severe pathological changes of nerve fiber when rendered ischemic. These paradoxical phenomena, however, have never b...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90129-m
更新日期：1993-11-01 00:00:00
abstract：METHODS:The nine hole peg test (9HPT) is an emerging outcome measure in clinical trials in multiple sclerosis (MS). In this study we investigated how performance on the 9HPT at baseline is related to annualized direct MS related cost. METHODS:We enrolled patients with a definite diagnosis of MS from two Canadian MS ce...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2014.03.047
更新日期：2014-06-15 00:00:00
abstract：:As an inhibitor of the immune system and a longevity drug, rapamycin has been suggested as a treatment for Alzheimer's disease, although the underlying mechanisms remain to be clarified. To elucidate the mechanisms, we performed a high-throughput quantitative proteomics analysis and bioinformatics analysis of the chan...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.02.022
更新日期：2019-04-15 00:00:00
abstract：BACKGROUND:MS relapses are unpredictable and can be concerning to patients and their caregivers. OBJECTIVE:To assess the direct and indirect cost burden associated with relapses of different severities in MS patients and with MS relapse frequency on spouse caregivers. METHODS:Using a U.S. insurance claims and employe...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.04.007
更新日期：2013-07-15 00:00:00
abstract：:Fingolimod is the first oral disease-modifying therapy approved for relapsing forms of multiple sclerosis (MS). Following phosphorylation in vivo, the active agent, fingolimod phosphate (fingolimod-P), acts as a sphingosine 1-phosphate (S1P) receptor modulator, binding with high affinity to four of the five known S1P ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2013.02.011
更新日期：2013-05-15 00:00:00
abstract：:Nitric oxide (*NO)-mediated toxicity has been involved in neurodegenerative diseases, including Parkinson's disease (PD). We have recently reported an increase of about 50% in *NO production rate in PMA-activated polymorphonuclear leukocytes (PMN) from either newly diagnosed or chronically treated PD patients. As humo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00079-9
更新日期：1999-05-01 00:00:00
abstract：:We detected androgen receptor (AR) mRNA expression in various tissues in the patients with X-BSNP and controls using reverse transcription polymerase chain reaction (RT-PCR) and Northern blot analysis. The AR mRNAs were expressed in a wide variety of tissues including the testis, scrotal skin, liver, skeletal and card...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)90133-3
更新日期：1994-12-01 00:00:00
abstract：BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by the involvement of cerebral small arteries. Although cerebral large artery disease has been reported in CADASIL patients, the prevalence and location of relevant cerebral arterial disease ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.11.029
更新日期：2015-12-15 00:00:00
abstract：BACKGROUND:ew drugs were confirmed to be effective in the treatments of neurological dysfunction caused by acute intracerebral hemorrhage (ICH). The present prospective clinical trial aims to evaluate the effect of mouse nerve growth factor (mNGF) on neurological function in patients with acute ICH. METHODS:60 patient...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117069
更新日期：2020-11-15 00:00:00
abstract：:In order to evaluate progress in preventive therapeutic strategies, and to identify potential targets for improvement, it is essential to assess changes in the risk factors and preventive treatment of stroke over time. All of the strokes occurring within the population of Dijon, France (150,000 inhabitants), were pros...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.08.062
更新日期：2009-12-15 00:00:00
abstract：:Charcot-Marie-Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, e...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.05.029
更新日期：2014-08-15 00:00:00
abstract：:An endogenous factor that is able to reduce the fast transient sodium current of excitable cells has been reported to exist in the cerebrospinal fluid (CSF) of multiple sclerosis (MS) patients. This was confirmed with nine clinically definite MS patients in the acute relapse. In order to purify and chemically identify...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00285-3
更新日期：2000-01-01 00:00:00
abstract：:Psychiatric and intellectual comorbidities are common in patients with epilepsy. However, data on the use of antiepileptic drugs in these patients are still lacking. This study assessed the real-world effectiveness and safety/tolerability of eslicarbazepine acetate (ESL) in patients with intellectual disability and ps...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.04.040
更新日期：2019-07-15 00:00:00
abstract：OBJECTIVE:To report the first histopathologic description of optic nerve demyelination from tacrolimus (FK 506) toxicity in the absence of toxic levels of tacrolimus in a patient presenting with asymmetric bilateral visual loss after 5 years of tacrolimus therapy. PATIENTS:We report a patient status post cardiac and r...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.10.014
更新日期：2011-02-15 00:00:00
abstract：:To investigate the underlying basis for the selective modulation of the permeability of the blood-brain barrier by small doses of bradykinin, we first established cell lines of rat brain microvascular endothelial cells (BMECs) and astrocytes by primary cultures from neonatal rats. BMECs, astrocytes and C6 glioma cells...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.02.031
更新日期：2007-07-15 00:00:00
abstract：:The purpose of this study is to compare the therapeutic effects between autologous and allogenic bone-marrow-derived mesenchymal stem cell (MSC) transplantation in experimentally-induced spinal cord injury (SCI) of dogs. Thirty adult Beagle dogs (control group=10, autologous group=10, and allogenic group=10) were used...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.05.027
更新日期：2009-10-15 00:00:00
abstract：INTRODUCTION:Primary lateral sclerosis is a rare neurodegenerative disorder of the upper motor neurons. Diagnostic criteria have changed considerably over the years, and the recent consensus criteria introduced 'probable PLS' for patients with a symptom duration of 2-4 years. The objective of this study is the systemat...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117052
更新日期：2020-10-15 00:00:00
abstract：:We report two cases of adult-onset leukodystrophy with axonal spheroids in a brother and sister, one with an autopsy, the other with a cerebral biopsy. Symptoms developed at 24 and 33years. The sister died within four years, her brother in 2 and a half. Her brain showed a large lesion in the frontal centrum semiovale ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.06.027
更新日期：2010-10-15 00:00:00
abstract：:Brain imaging studies as well as neuropsychological case studies suggest an important role for basal ganglia in arithmetic processing. Aim of this study was to assess possible numerical deficits in PD and functional relations between numerical and other cognitive deficits. Fifteen non-demented patients with early PD (...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.05.037
更新日期：2006-10-25 00:00:00
abstract：BACKGROUND:Entrapment neuropathy of the radial nerve at the spiral groove region is relatively common. However, its localization may be technically challenging. OBJECTIVE:To evaluate the use of ultrasound (US), in relation to electrophysiological testing, for this purpose. METHODS:We studied 32 normal controls to obt...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.03.014
更新日期：2008-08-15 00:00:00
