Angelman syndrome: correlations between epilepsy phenotypes and genotypes.

abstract：:Nerve fibers containing neuropeptide Y (NPY), vasoactive intestinal polypeptide (VIP), substance P (SP), and calcitonin gene-related peptide (CGRP) were seen in the adventitia or at the adventitia-media border of the human temporal artery. Pharmacological experiments on isolated temporal artery segments revealed that ...

journal_title：Annals of neurology

authors： Jansen I,Uddman R,Hocherman M,Ekman R,Jensen K,Olesen J,Stiernholm P,Edvinsson L

更新日期：1986-10-01 00:00:00

abstract：OBJECTIVE:We utilized the amyloid imaging ligand Pittsburgh Compound B (PiB) to determine the presence of Alzheimer's disease (AD) pathology in different mild cognitive impairment (MCI) subtypes and to relate increased PiB binding to other markers of early AD and longitudinal outcome. METHODS:Twenty-six patients with ...

journal_title：Annals of neurology

authors： Wolk DA,Price JC,Saxton JA,Snitz BE,James JA,Lopez OL,Aizenstein HJ,Cohen AD,Weissfeld LA,Mathis CA,Klunk WE,De-Kosky ST

更新日期：2009-05-01 00:00:00

abstract：:A 50,000-dalton polypeptide has been purified from fractions enriched with neurofibrillary tangles of paired helical filaments from human autopsy specimens of Alzheimer disease and senile dementia of the Alzheimer type. An antiserum to this polypeptide was raised in a rabbit. This antiserum formed an immunoprecipitati...

journal_title：Annals of neurology

authors： Grundke-Iqbal I,Johnson AB,Terry RD,Wisniewski HM,Iqbal K

更新日期：1979-12-01 00:00:00

abstract：:To evaluate the proportion of cases of myoglobinuria that can be ascribed to specific metabolic defects, we have studied eight enzymes--phosphorylase, phosphorylase kinase, phosphofructokinase (PFK), phosphoglycerate kinase (PGK), phosphoglycerate mutase (PGAM), lactate dehydrogenase (LDH), carnitine palmitoyltransfer...

journal_title：Annals of neurology

authors： Tonin P,Lewis P,Servidei S,DiMauro S

更新日期：1990-02-01 00:00:00

abstract：OBJECTIVE:The study was undertaken to determine whether normobaric hypoxia causes elevated brain volume and intracranial pressure in individuals with symptoms consistent with acute mountain sickness (AMS). METHODS:Thirteen males age = (26 (sd 6)) years were exposed to normobaric hypoxia (12% O2 ) and normoxia (21% O2 ...

journal_title：Annals of neurology

authors： Lawley JS,Alperin N,Bagci AM,Lee SH,Mullins PG,Oliver SJ,Macdonald JH

更新日期：2014-06-01 00:00:00

abstract：OBJECTIVE:The cellular and molecular mechanisms underlying magnetic resonance imaging-defined white matter (WM) changes associated with age-related cognitive decline remain poorly defined. We tested the hypothesis that WM lesions in older adults, defined by diffusion tensor imaging (DTI), arise in the setting of vascul...

journal_title：Annals of neurology

authors： Back SA,Kroenke CD,Sherman LS,Lawrence G,Gong X,Taber EN,Sonnen JA,Larson EB,Montine TJ

更新日期：2011-09-01 00:00:00

abstract：OBJECTIVE:Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy. CNM has been associated with mutations in MTM1, DNM2, and BIN1 but many cases remain genetically unresolved. RYR1 encodes the principal sarcoplasmic reticulum calcium release channel and ...

journal_title：Annals of neurology

authors： Wilmshurst JM,Lillis S,Zhou H,Pillay K,Henderson H,Kress W,Müller CR,Ndondo A,Cloke V,Cullup T,Bertini E,Boennemann C,Straub V,Quinlivan R,Dowling JJ,Al-Sarraj S,Treves S,Abbs S,Manzur AY,Sewry CA,Muntoni F,Jung

更新日期：2010-11-01 00:00:00

abstract：:We studied neuronal activity and its relation to the accumulation of neurofibrillary tangles in Alzheimer's disease (AD) neurons by in situ hybridization to cytochrome oxidase subunit III messenger RNA, a marker of mitochondrial energy metabolism. In AD midtemporal cortex, levels of cytochrome oxidase subunit III mess...

journal_title：Annals of neurology

authors： Hatanpää K,Brady DR,Stoll J,Rapoport SI,Chandrasekaran K

更新日期：1996-09-01 00:00:00

abstract：OBJECTIVE:We aimed to determine the risk of short- and long-term stroke, as well as accidental injury, in patients discharged from an emergency department who were given a diagnosis of a peripheral vestibular disorder. METHODS:In this population-based, retrospective, cohort study, we identified all adult patients who ...

journal_title：Annals of neurology

authors： Atzema CL,Grewal K,Lu H,Kapral MK,Kulkarni G,Austin PC

更新日期：2016-01-01 00:00:00

abstract：:Alterations of nodal and paranodal axolemma of the rat sciatic nerve were investigated in antigalactocerebroside serum-induced demyelination. A ferric ion-ferrocyanide (FeFCN) stain that appears to stain the regions with a high sodium channel density in nerve fibers was applied. When acute conduction block was initiat...

journal_title：Annals of neurology

authors： Saida K,Saida T,Kayama H,Nishitani H

更新日期：1984-06-01 00:00:00

abstract：:A subset of human immunodeficiency virus (HIV)-infected patients develop persistent CD8 hyperlymphocytosis and a Sjogren's syndrome-like syndrome associated with multivisceral CD8 T-cell infiltration, known as the diffuse infiltrative lymphocytosis syndrome (DILS). Patients with DILS tend to have higher CD4 cell count...

journal_title：Annals of neurology

authors： Moulignier A,Authier FJ,Baudrimont M,Pialoux G,Belec L,Polivka M,Clair B,Gray F,Mikol J,Gherardi RK

更新日期：1997-04-01 00:00:00

abstract：OBJECTIVE:Small-fiber sensory and autonomic symptoms are early presentations of familial amyloid polyneuropathy (FAP) with transthyretin (TTR) mutations. This study aimed to explore the potential of skin nerve pathologies as early and disease-progression biomarkers and their relationship with skin amyloid deposits. ME...

journal_title：Annals of neurology

authors： Chao CC,Hsueh HW,Kan HW,Liao CH,Jiang HH,Chiang H,Lin WM,Yeh TY,Lin YH,Cheng YY,Hsieh ST

更新日期：2019-04-01 00:00:00

abstract：:A chronic remitting-relapsing form of experimental allergic encephalomyelitis (EAE) has been produced in monkeys sensitized to homologous myelin basic protein in Freund's complete adjuvants by the technique of suboptimal treatment after the onset of disease. Not only does the clinical course resemble that of human mul...

journal_title：Annals of neurology

authors： Shaw CM,Alvord EC Jr,Hruby S

更新日期：1988-12-01 00:00:00

abstract：OBJECTIVE:To investigate whether soluble growth stimulation expressed gene 2 (sST2), a prognostic marker in cardiovascular and inflammatory disorders, is associated with neurological injury after aneurysmal subarachnoid hemorrhage (SAH). METHODS:We studied SAH patients from 2 independent cohorts. Outcome assessments i...

journal_title：Annals of neurology

authors： Bevers MB,Wolcott Z,Bache S,Hansen C,Sastre C,Mylvaganam R,Koch MJ,Patel AB,Møller K,Kimberly WT

更新日期：2019-09-01 00:00:00

abstract：:The effects on cerebral hemodynamics of venisection and a 4% albumin-saline infusion were studied in six patients with high hematocrit (mean, 51.5%). Cerebral blood flow (CBF) was measured using the xenon 133 intracarotid injection method. Blood gases were measured in arterial and jugular venous blood. Rapid two-stage...

journal_title：Annals of neurology

authors： Henriksen L,Paulson OB,Smith RJ

更新日期：1981-05-01 00:00:00

abstract：:A hereditary ceruloplasmin deficiency associated with severe iron deposition in visceral organ and brain tissues found on histopathological examination at autopsy is discussed. Three siblings of consanguineous Japanese parents were studied. Their clinical symptoms were progressive dementia, extrapyramidal disorders, c...

journal_title：Annals of neurology

authors： Morita H,Ikeda S,Yamamoto K,Morita S,Yoshida K,Nomoto S,Kato M,Yanagisawa N

更新日期：1995-05-01 00:00:00

abstract：:Discussing the problem of multiple sclerosis and viruses should not be limited to reviewing the epidemiological evidence in favor, or against, a particular candidate, such as Epstein-Barr virus or human herpes virus 6. In this text, I discuss the difficulty of going from association to causation in human epidemiology;...

journal_title：Annals of neurology

authors： Brahic M

更新日期：2010-07-01 00:00:00

abstract：:Demonstration of intrathecal IgG production is employed in the diagnosis of various neurological disorders. This pathological IgG fraction in cerebrospinal fluid (CSF) can be visualized directly as oligoclonal bands by electrophoresis or isoelectric focusing or can be calculated as "excess" or "synthesized" IgG accord...

journal_title：Annals of neurology

authors： Lefvert AK,Link H

更新日期：1985-01-01 00:00:00

abstract：:The post-poliomyelitis syndrome (PPS) refers to symptoms of new weakness, fatigue, and pain years after recovery from acute poliomyelitis. Oligoclonal IgG bands have been reported in the cerebrospinal fluid (CSF) from PPS patients, suggesting that the syndrome is immune mediated or caused by persistent viral infection...

journal_title：Annals of neurology

authors： Salazar-Grueso EF,Grimaldi LM,Roos RP,Variakojis R,Jubelt B,Cashman NR

更新日期：1989-12-01 00:00:00

abstract：:Malignant tumors are known to have a "remote" or nonmetastatic effect on the central and peripheral nervous systems. Eight patients were seen with proximal muscle weakness in association with bronchogenic carcinoma (5), carcinoma of breast (2), and leukemia (1). Electromyography demonstrated small polyphasic motor uni...

journal_title：Annals of neurology

authors： Barron SA,Heffner RR Jr

更新日期：1978-09-01 00:00:00

abstract：:Although the cause of multiple sclerosis (MS) has remained obscure, many findings support an autoimmune pathogenesis on the background of a complex interaction between multiple genes and environmental factors. Accordingly, targeting the immune system has been a rational approach for the treatment of MS. The developmen...

journal_title：Annals of neurology

authors： Hemmer B,Hartung HP

更新日期：2007-10-01 00:00:00

abstract：:From a population-based sample of 15,504 patients attending Canadian multiple sclerosis (MS) clinics, we have determined the frequency of conjugal MS and have estimated the recurrence risk in offspring of such matings. Twenty-three MS cases were found among 13,550 spouses of study probands for a crude conjugal rate of...

journal_title：Annals of neurology

authors： Ebers GC,Yee IM,Sadovnick AD,Duquette P

更新日期：2000-12-01 00:00:00

abstract：:To explore the concept that dystonia may result from dysfunction of the sensory system, 14 patients with focal hand dystonia were tested during two somatosensory discrimination tasks. Compared with controls, patients had a higher threshold in a task involving discrimination of two electric stimuli closely related temp...

journal_title：Annals of neurology

authors： Bara-Jimenez W,Shelton P,Sanger TD,Hallett M

更新日期：2000-03-01 00:00:00

abstract：:Although interictal spikes are thought to share pathophysiological mechanisms with partial-onset seizure discharges, positron emission tomographic studies of the interictal state have paradoxically shown focal hypometabolism whereas seizures produce hypermetabolism. To address this question, we performed functional ma...

journal_title：Annals of neurology

authors： Handforth A,Finch DM,Peters R,Tan AM,Treiman DM

更新日期：1994-06-01 00:00:00

abstract：:We report a large family with a temporal partial epilepsy syndrome inherited in an autosomal dominant mode, with a penetrance of about 80%. This epilepsy syndrome is benign, with age of onset in the second or third decade of life. It is characterized by rare partial seizures, usually secondarily generalized, arising m...

journal_title：Annals of neurology

authors： Poza JJ,Sáenz A,Martínez-Gil A,Cheron N,Cobo AM,Urtasun M,Martí-Massó JF,Grid D,Beckmann JS,Prud'homme JF,López de Munain A

更新日期：1999-02-01 00:00:00

abstract：:Apolipoprotein E has been implicated in modifying neurological outcome after traumatic brain injury, although the mechanisms by which this occurs remain poorly defined. To investigate the role of endogenous apolipoprotein E following acute brain injury, noninvasive magnetic resonance imaging was performed on anestheti...

journal_title：Annals of neurology

authors： Lynch JR,Pineda JA,Morgan D,Zhang L,Warner DS,Benveniste H,Laskowitz DT

更新日期：2002-01-01 00:00:00

abstract：:Alexander's law refers to the phenomenon in which the spontaneous nystagmus of a patient with a vestibular lesion is more intense when the patient looks in the quick-phase than in the slow-phase direction. Alexander's law was investigated in normal subjects as well as patients with vestibular lesions. During sinusoida...

journal_title：Annals of neurology

authors： Robinson DA,Zee DS,Hain TC,Holmes A,Rosenberg LF

更新日期：1984-12-01 00:00:00

abstract：:We present our approach to the diagnosis of pediatric neurotransmitter diseases exemplified by the differential diagnosis of children presenting with dystonia. This approach is based upon the primary aim of early diagnosis of treatable conditions and the need for a logical series of investigations. We have tried to be...

journal_title：Annals of neurology

authors： Assmann B,Surtees R,Hoffmann GF

更新日期：2003-01-01 00:00:00

abstract：:Layer II of the entorhinal cortex contains the cells of origin for the perforant path, plays a critical role in memory processing, and consistently degenerates in end-stage Alzheimer's disease. The extent to which neuron loss in layer II of entorhinal cortex is related to mild cognitive impairment without dementia has...

journal_title：Annals of neurology

authors： Kordower JH,Chu Y,Stebbins GT,DeKosky ST,Cochran EJ,Bennett D,Mufson EJ

更新日期：2001-02-01 00:00:00

abstract：:Prevalence and titer of total, free, and bound cerebrospinal fluid anti-myelin basic protein (MBP) antibodies as well as free/bound ratios were determined in four groups of patients with multiple sclerosis (MS) and three groups of controls. All patients with clinically active MS have elevated levels of total anti-MBP,...

journal_title：Annals of neurology

authors： Warren KG,Catz I

更新日期：1986-07-01 00:00:00