Abstract:
:The muscle provocation test (MPT: 40 min of strenuous exercise on a bicycle ergometer) is a sensitive method for the detection of carriers of Duchenne muscular dystrophy. The diagnostic applicability of MPT for carrier detection in X-linked Becker muscular dystrophy is demonstrated. Obligate carriers with mean creatine kinase (CK) values on repeated determination within the normal range showed a greater CK elevation after MGP than control subjects. Three of seven daughters of obligate carriers with normal resting CK activity had increased CK activity after MPT. These data suggest that the use of MPT may enhance the capability to discriminate carriers for these X-linked recessive genes.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Herrmann FH,Spiegler AWdoi
10.1016/0022-510x(83)90194-6subject
Has Abstractpub_date
1983-12-01 00:00:00pages
141-6issue
1-3eissn
0022-510Xissn
1878-5883pii
0022-510X(83)90194-6journal_volume
62pub_type
杂志文章abstract::We have studied the regional distribution of glycoasparagine storage material in the brain in aspartylglycosaminuria, a condition characterized by inherited deficiency of lysosomal N-aspartyl-beta-N-acetylglucosamine amidohydrolase. Gaschromatographic measurements of the main accumulating glycoprotein-derived metaboli...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(81)90174-x
更新日期:1981-05-01 00:00:00
abstract:PURPOSE:This study aimed to provide an updated overview of primary central lymphoma (PCL) using a large cohort of 33 years. That being said, we attempted to examine the patient demographics, management plans and their outcome, causes of death and the time trends in overall incidence and mortality rates of these patient...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.116890
更新日期:2020-08-15 00:00:00
abstract::Motor neurone disease (MND) is a useful paradigm for many progressive disabling neurological disorders and serves as a particularly opposite model for the study of patients' responses to progressive and irreversible disability. We studied the progression of disability and the patients' perception of their health in a ...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/0022-510x(95)00062-7
更新日期:1995-05-01 00:00:00
abstract::Outcome after aSAH depends on several factors, including the severity of the initial event, perioperative medical management, surgical variables, and the incidence of complications. Cerebral vasospasm (CV) is ure to consistently respond to treatment, emphasizing the need for further research into the underlying mechan...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2007.04.046
更新日期:2007-10-15 00:00:00
abstract::Although lomerizine is used as a first-line prophylactic drug for migraines in Japan, approximately 30% of patients fail to respond to this treatment. On the basis of medical records, we investigated the involvement of clinical factors in response to lomerizine used in patients with migraine as primary headache and es...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.09.007
更新日期:2013-12-15 00:00:00
abstract::To systematically elucidate the gene expression of inflammatory and immune modulators following middle cerebral artery occlusion (MCAO) in the rat, we studied interleukin-10 (IL-10) along with tumor necrosis factor alpha (TNF-alpha), interleukin-1 beta (IL-1beta) and interleukin-2 (IL-2). Gene expression of these cyto...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(97)00154-8
更新日期:1997-11-25 00:00:00
abstract::Weanling male Wistar rats fed a diet containing 0.5-2% cuprizone developed intramyelinic edema of the cerebellar white matter, hilum of the dentate nucleus and superior cerebellar peduncle. Oligodendrocytes in these regions showed hyperchromatic nuclei and abnormally dense cytoplasm, with an increase in the number of ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(88)90127-x
更新日期:1988-04-01 00:00:00
abstract::A single micro-injection of Tumour Necrosis Factor alpha (TNF) or gamma Interferon (IFN-gamma) into the lumbosacral spinal cord of the rat produced meningitis and mononuclear cuffs within the cord, an inflammatory response remarkably similar in pattern to that observed during experimental autoimmune encephalomyelitis ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(90)90010-k
更新日期:1990-12-01 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::Six clones obtained from the neoplastic, astrocytic murine cell line VMDk P497 were injected intracerebrally into syngeneic hosts and the tumorigenicity of each clone was established. Five of the 6 clones produced tumours with incidences ranging from 25% to 100% and mean latencies of 43-100 days, according to the clon...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(88)90071-8
更新日期:1988-02-01 00:00:00
abstract::Sequential pairs of cerebrospinal fluid (CSF) and serum samples from 10 patients followed for 2.5-12 years after onset of unilateral optic neuritis (ON) were studied. Eight patients developed definite multiple sclerosis (MS) during the observation period. All patients had normal CSF protein patterns on agar or agarose...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(87)90182-1
更新日期:1987-10-01 00:00:00
abstract::Intracerebral hemorrhage (ICH) is life threatening neurologic event that results in significant rate of morbidity and mortality. Unfortunately, several randomized clinical trials aiming at limiting the hematoma expansion (HE) in the acute phase of ICH have not shown significant effects in improving the functional outc...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2020.116766
更新日期:2020-06-15 00:00:00
abstract::Naturally occurring botulinum toxin (BoNT) serotypes have different pharmacological features of therapeutic and aesthetic interest. This phase 1, double-blind, placebo-controlled study (EudraCT: 2016-002609-20) assessed safety, tolerability and pharmacodynamics (PD) of the first recombinant BoNT serotype E (rBoNT-E) v...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.jns.2019.116516
更新日期:2019-12-15 00:00:00
abstract::Autoantibodies against astrocyte water channel aquaporin-4 (AQP4) are highly specific for neuromyelitis optica (NMO). However, the molecular mechanism of NMO still remains unclear. The purpose of this study was to identify the possible humoral mechanisms responsible for the occurrence of astrocytic damage. Human prima...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.05.035
更新日期:2013-08-15 00:00:00
abstract:OBJECTIVE:To describe the clinical characteristics, delay to diagnosis and post-intervention outcomes of patients with low-flow spinal arteriovenous fistulas (SAVFs). METHODS:In this retrospective observational study, we reviewed all patients with low-flow SAVFs angiographically diagnosed at our institution between 20...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.116863
更新日期:2020-06-15 00:00:00
abstract::The purpose of this study was to compare magnetic resonance imaging (MRI) features and proton MR spectroscopy (1H-MRS) patterns of multiple sclerosis (MS) plaques in order to define the metabolic substrate in different lesion subtypes. Combined MRI and single-voxel 1H-MRS investigation was performed in 54 MS patients ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(00)00464-0
更新日期:2001-01-01 00:00:00
abstract::Post-streptococcal neuropsychiatric disorders encompass a broad spectrum of movement disorders, including tics, stereotypies, dystonia and tremor. We report the case of a 15-year-old boy who presented with a relapsing-remitting combination of psychogenic and organic movement disorders. Both relapses occurred after an ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.10.004
更新日期:2010-01-15 00:00:00
abstract::Intracerebral inoculation of mice with the MS strain of type 2 herpes simplex virus (HSV-2) causes a brief encephalitis associated with multifocal central nervous system demyelination. Many of the mice develop unilateral or bilateral impairment of the pupillary light reflex. We have examined the development of ocular ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(93)90217-m
更新日期:1993-04-01 00:00:00
abstract::Human leptomeningeal (arachnoid and pia mater) cells in culture have been demonstrated in replicated studies to express typical neuronal proteins such as neurofilament protein and neuron-specific enolase. In addition, they can express glial fibrillary acidic protein. The present study examines the possibility that neu...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(96)00189-x
更新日期:1996-12-01 00:00:00
abstract::In recent years it has become clear that multiple sclerosis (MS) patients benefit from physical exercise as performed in aerobic training but little is known about the effect on functional domains and physiological factors mediating these effects. We studied immunological, endocrine and neurotrophic factors as well as...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/j.jns.2004.06.009
更新日期:2004-10-15 00:00:00
abstract::The Clausen modification of the peripheral blood buffy coat leukocyte migration test was used to test patients with multiple sclerosis, normal subjects and patients with other neurologic diseases for cell-mediated immunity to commercial measles virus, purified nuclear core material from a human neurotropic strain of m...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(76)90026-5
更新日期:1976-07-01 00:00:00
abstract::A monoclonal antibody (ML30), previously shown to identify a human mitochondrial protein epitope homologous with the groEL heat-shock protein of bacteria (hsp60), was used in an immunohistochemical survey of the central nervous system in patients dying with no evidence of neurological disease and in tissue from patien...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(93)90111-b
更新日期:1993-09-01 00:00:00
abstract::Parkinson's disease (PD) is a common disorder of the central nervous system in the elderly. The pathogenesis of PD is a complex process, with genetics as an important contributing factor. This factor may stem from mitochondrial gene variations and mutations as well as from nuclear gene variations and mutations. More r...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2014.07.067
更新日期:2014-11-15 00:00:00
abstract::The thyroid hormone thyroxine (T4), administered post-natally to neonatal rats, has been shown to accelerate development of auditory function, as expressed by auditory nerve-brainstem evoked responses. This study investigated whether this earlier development was also reflected in other sensory modalities. Rat pups wer...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)00229-h
更新日期:1995-02-01 00:00:00
abstract::The occurrence of neuropathy in 5 cases of inclusion body myositis (IBM) was studied. The intramuscular nerve branches showed variable ultrastructural changes in all cases. The observed changes were loss of axons, wallerian degeneration and axon terminal atrophy. EMG with concentric needles showed myopathic motor unit...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(90)90167-l
更新日期:1990-11-01 00:00:00
abstract::We describe the long-term clinical outcome of a patient with Leigh-like syndrome presenting as an early onset encephalopathy and peripheral neuropathy caused by the T8993G mutation in the mitochondrial DNA (mtDNA). Clinical follow-up for 20 years revealed a peculiar pattern of slow disease progression, characterized b...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2008.11.023
更新日期:2009-03-15 00:00:00
abstract::We studied the effects of fasudil, a selective Rho-kinase inhibitor, on experimental autoimmune neuritis (EAN). Continuous parenteral administration of fasudil prevented the development of EAN induced by P0 peptide 180-199 in Lewis rats while it also reduced EAN severity when administered after disease onset. Immunohi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.03.031
更新日期:2011-07-15 00:00:00
abstract:BACKGROUND:Although most patients with Parkinson's disease (PD) show decreased cardiac (123)I-metaiodobenzylguanidine (MIBG) uptake, some exhibit normal uptake. We evaluated the clinical characteristics of such patients. METHODS:We enrolled 154 non-demented patients showing parkinsonism with normal cardiac MIBG uptake...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.10.059
更新日期:2015-12-15 00:00:00
abstract::Fingerprint inclusions were identified in the skeletal muscle of a child with severe hypotonia. The mean Z-line and M-line widths from each of 19 muscle fibers containing the fingerprint inclusions were calculated. The mean Z-line widths were 85-99 nm, and the mean M-line widths were 75-101 nm. According to out presen...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(77)90216-7
更新日期:1977-04-01 00:00:00
abstract::Cathepsin B (CB) activity was measured in aqueous extracts of frozen autopsy specimens of centrum semiovale from three MS patients, five control patients with other neurological diseases, and five normal individuals. Mean activity was significantly increased in the MS tissue compared with controls. The mean activity i...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(95)00039-5
更新日期:1995-07-01 00:00:00