Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.

abstract：:A 14-year-old boy survived for 7 years after the initial diagnosis and treatment of acute lymphocytic leukemia. Neurologic deterioration occured repeatedly throughout his complicated clinical course but it was most severe and only partially reversible following orally administered pyrimethamine. The neuropathologic le...

journal_title：Neurology

authors： Devivo DC,Malas D,Nelson JS,Land VJ

更新日期：1977-07-01 00:00:00

abstract：BACKGROUND:Several studies indicate semantic fluency more sensitively discriminates patients with Alzheimer disease (AD) from normal elderly persons, with disproportionate impairment of semantic over phonemic fluency. OBJECTIVE:To determine the ability of abbreviated fluency measures in the clinic setting (1-minute le...

journal_title：Neurology

authors： Canning SJ,Leach L,Stuss D,Ngo L,Black SE

更新日期：2004-02-24 00:00:00

abstract：:A prospective trial of plasmapheresis and azathioprine or azathioprine alone was carrier out on 20 patients with chronic progressive MS. Seven of 10 patients in each group continued therapy for 12 months. When the groups were compared by disability ratings, the combination of plasmapheresis and azathioprine was no bet...

journal_title：Neurology

authors： Tindall RS,Walker JE,Ehle AL,Near L,Rollins J,Becker D

更新日期：1982-07-01 00:00:00

abstract：OBJECTIVE:Physician prediction of outcome in critically ill neurologic patients impacts treatment decisions and goals of care. In this observational study, we prospectively compared predictions by neurointensivists to patient outcomes at 6 months. METHODS:Consecutive neurologic patients requiring mechanical ventilatio...

journal_title：Neurology

authors： Finley Caulfield A,Gabler L,Lansberg MG,Eyngorn I,Mlynash M,Buckwalter MS,Venkatasubramanian C,Wijman CA

更新日期：2010-04-06 00:00:00

abstract：:Rates of temporal horn volume change were significantly greater in the subjects with mild cognitive impairment who were developing dementia vs those who remained stable. ...

journal_title：Neurology

authors： Erten-Lyons D,Howieson D,Moore MM,Quinn J,Sexton G,Silbert L,Kaye J

更新日期：2006-01-24 00:00:00

abstract：:Twenty-two patients were analyzed 2 or more years after corpus callosum section (9 partial, 13 total). Forty-one percent had class 1 outcome (elimination of secondarily generalized and complex partial seizures), 32% had class 2 outcome (elimination of secondarily generalized seizures), and 27% had class 3 outcome (no ...

journal_title：Neurology

authors： Spencer SS,Spencer DD,Williamson PD,Sass K,Novelly RA,Mattson RH

更新日期：1988-01-01 00:00:00

abstract：OBJECTIVE:To evaluate relationships among cognitive, behavioral, and psychiatric/psychosocial measures assessed in a multicenter cohort of patients with amyotrophic lateral sclerosis (ALS). METHODS:Recently diagnosed patients with definite or probable ALS diagnosis were administered 7 standardized psychiatric/psychoso...

journal_title：Neurology

authors： Rabkin J,Goetz R,Murphy JM,Factor-Litvak P,Mitsumoto H,ALS COSMOS Study Group.

更新日期：2016-09-27 00:00:00

abstract：OBJECTIVES:We compared the ability of molecular biomarkers for Alzheimer disease (AD), including amyloid imaging and CSF biomarkers (Aβ42, tau, ptau181, tau/Aβ42, ptau181/Aβ42), to predict time to incident cognitive impairment among cognitively normal adults aged 45 to 88 years and followed for up to 7.5 years. METHOD...

journal_title：Neurology

authors： Roe CM,Fagan AM,Grant EA,Hassenstab J,Moulder KL,Maue Dreyfus D,Sutphen CL,Benzinger TL,Mintun MA,Holtzman DM,Morris JC

更新日期：2013-05-07 00:00:00

abstract：OBJECTIVE:To validate the Narcolepsy Severity Scale (NSS), a brief clinical instrument to evaluate the severity and consequences of symptoms in patients with narcolepsy type 1 (NT1). METHODS:A 15-item scale to assess the frequency and severity of excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, slee...

journal_title：Neurology

authors： Dauvilliers Y,Beziat S,Pesenti C,Lopez R,Barateau L,Carlander B,Luca G,Tafti M,Morin CM,Billiard M,Jaussent I

更新日期：2017-04-04 00:00:00

abstract：:Cerebrospinal fluid (CSF) pressure was measured in four groups of patients: 116 with acute pseudotumor cerebri, 18 with chronic pseudotumor cerebri, 41 obese and 15 nonobese normal patients undergoing spinal anesthesia. Spinal fluid pressure between 200 and 250 mm H2O was found in members of each group. This suggests ...

journal_title：Neurology

authors： Corbett JJ,Mehta MP

更新日期：1983-10-01 00:00:00

abstract：OBJECTIVE:Development of an easy to administer, low-cost test of vestibular function. METHODS:Members of the NIH Toolbox Sensory Domain Vestibular, Vision, and Motor subdomain teams collaborated to identify 2 tests: 1) Dynamic Visual Acuity (DVA), and 2) the Balance Accelerometry Measure (BAM). Extensive work was comp...

journal_title：Neurology

authors： Rine RM,Schubert MC,Whitney SL,Roberts D,Redfern MS,Musolino MC,Roche JL,Steed DP,Corbin B,Lin CC,Marchetti GF,Beaumont J,Carey JP,Shepard NP,Jacobson GP,Wrisley DM,Hoffman HJ,Furman G,Slotkin J

更新日期：2013-03-12 00:00:00

abstract：:The authors identified two novel heterozygous missense transitions in the gene for the mitochondrial polymerase gammaA subunit (POLG) in a family with an autosomal recessive syndrome comprising progressive external ophthalmoplegia (PEO), polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders. Thes...

journal_title：Neurology

authors： Mancuso M,Filosto M,Bellan M,Liguori R,Montagna P,Baruzzi A,DiMauro S,Carelli V

更新日期：2004-01-27 00:00:00

abstract：:Previous studies have suggested that an abnormal release of potassium from muscle may accompany attacks of paramyotonic weakness. We investigated 3 patients with paramyotonia congenita before and after the induction of forearm muscle weakness by exercise in cold water. Two of these patients had paralysis periodica par...

journal_title：Neurology

authors： Moxley RT 3rd,Ricker K,Kingston WJ,Böhlen R

更新日期：1989-07-01 00:00:00

abstract：OBJECTIVE:To assess whether the association between reperfusion and improved clinical outcomes after stroke differs depending on the site of the arterial occlusive lesion (AOL). METHODS:We pooled data from Solitaire With the Intention for Thrombectomy (SWIFT), Solitaire FR Thrombectomy for Acute Revascularisation (STA...

journal_title：Neurology

authors： Lemmens R,Hamilton SA,Liebeskind DS,Tomsick TA,Demchuk AM,Nogueira RG,Marks MP,Jahan R,Gralla J,Yoo AJ,Yeatts SD,Palesch YY,Saver JL,Pereira VM,Broderick JP,Albers GW,Lansberg MG,DEFUSE 2, IMS III, STAR, and SWIFT trial

更新日期：2016-02-23 00:00:00

abstract：:Although Alzheimer's disease is generally considered a degenerative disease that primarily affects the cerebral cortex, subcortical structures such as the substantia innominata and certain brainstem nuclei may be involved. In 28 patients with progressive dementia and pathologically confirmed Alzheimer's disease, we fo...

journal_title：Neurology

authors： McDuff T,Sumi SM

更新日期：1985-01-01 00:00:00

abstract：OBJECTIVE:To perform a single-center pilot investigation of early hematoma removal in patients with intracerebral hemorrhage (ICH). BACKGROUND:Considerable debate remains regarding the utility of surgical clot evacuation for ICH. METHODS:This was a prospective trial of open craniotomy within 12 hours of ICH symptom o...

journal_title：Neurology

authors： Morgenstern LB,Frankowski RF,Shedden P,Pasteur W,Grotta JC

更新日期：1998-11-01 00:00:00

abstract：BACKGROUND:Chronic cerebrospinal venous insufficiency (CCSVI) was proposed as the causal trigger for developing multiple sclerosis (MS). However, current data are contradictory and a gold standard for venous flow assessment is missing. OBJECTIVE:To compare structural magnetic resonance venography (MRV) and dynamic ext...

journal_title：Neurology

authors： Doepp F,Würfel JT,Pfueller CF,Valdueza JM,Petersen D,Paul F,Schreiber SJ

更新日期：2011-11-08 00:00:00

abstract：BACKGROUND:Although the APOE epsilon 4 allele increases the risk of developing AD, the effects of the epsilon 4 allele on brain atrophy in clinical AD patients are controversial. OBJECTIVE:To investigate a possible relationship between the genetic variants of APOE and brain atrophy in patients with AD. METHODS:Using ...

journal_title：Neurology

authors： Hashimoto M,Yasuda M,Tanimukai S,Matsui M,Hirono N,Kazui H,Mori E

更新日期：2001-10-23 00:00:00

abstract：OBJECTIVE:To investigate recovery of medical decision-making capacity (MDC) over the first year following traumatic brain injury (TBI). METHODS:A total of 177 participants (111 persons with TBI and 66 healthy controls) were recruited from an inpatient/outpatient TBI rehabilitation unit and outpatient neurology departm...

journal_title：Neurology

authors： Steward KA,Gerstenecker A,Triebel KL,Kennedy R,Novack TA,Dreer LE,Marson DC

更新日期：2016-09-06 00:00:00

abstract：:Spasticity may result in part from segmental spinal disinhibition. We determined the content and specific activity of glycine (the putative neurotransmitter thought to mediate spinal postsynaptic inhibition) and serine (the probable precursor of glycine) in feline spastic spinal cord following the intra-aortic adminis...

journal_title：Neurology

authors： Hall PV,Smith JE,Lane J,Mote T,Campbell R

更新日期：1979-02-01 00:00:00

abstract：OBJECTIVE:To study the impact of negative expectation related to receiving a placebo (the "lessebo effect") on efficacy outcome measures of symptomatic treatments in Parkinson disease (PD). METHODS:We conducted meta-analyses of double-blind randomized controlled trials (RCTs) of dopamine agonists in PD and compared th...

journal_title：Neurology

authors： Mestre TA,Shah P,Marras C,Tomlinson G,Lang AE

更新日期：2014-04-22 00:00:00

abstract：:Free amino acid determinations in the cerebrospinal fluid of patients with Parkinson's disease or other extrapyramidal disorders showed that in both groups most amino acids were increased. Significantly increased amino acids were neutral and basic amino acids. Amino acid clusters were present and corresponded with the...

journal_title：Neurology

authors： Lakke JP,Teelken AW

更新日期：1976-05-01 00:00:00

abstract：:Dapsone produces a potentially reversible toxic neuropathy, with its primary effect on the soma and axons of motor neurons as opposed to myelin. There is very little evidence to suggest involvement of sensory axons in most cases; if present, it would appear minimal. A "dying back" of motor axons is postulated to produ...

journal_title：Neurology

authors： Gutmann L,Martin JD,Welton W

更新日期：1976-06-01 00:00:00

abstract：BACKGROUND:Some patients with prosopagnosia have covert recognition, meaning that they retain some familiarity or knowledge of facial identity of which they are not aware. OBJECTIVE:To test the hypothesis that prosopagnosic patients with right occipitotemporal lesions and impaired face perception lack covert processin...

journal_title：Neurology

authors： Barton JJ,Cherkasova M,O'Connor M

更新日期：2001-10-09 00:00:00

abstract：:We attempted to define the role of subtle changes in the normal-appearing white matter (NAWM) in the development of disability in multiple sclerosis (MS). Twenty-seven clinically definite MS patients with either relapsing-remitting or chronic-progressive courses and 10 sex- and age-matched controls entered the study. ...

journal_title：Neurology

authors： Filippi M,Campi A,Dousset V,Baratti C,Martinelli V,Canal N,Scotti G,Comi G

更新日期：1995-03-01 00:00:00

abstract：:Twenty-seven patients with static or worsening chronic inflammatory-demyelinating polyradiculoneuropathy were randomly assigned to alternate day decremental prednisone therapy alone or with azathioprine (2 mg/kg) for 9 months. No statistically significant alterations were demonstrated between these treatment schedules...

journal_title：Neurology

authors： Dyck PJ,O'Brien P,Swanson C,Low P,Daube J

更新日期：1985-08-01 00:00:00

abstract：:Central nervous system (CNS) dysfunction in patients with systemic lupus erythematosus (SLE) is highly variable, although it is often described under a single heading of "neuropsychiatric" or "CNS" SLE. To clarify these CNS abnormalities, we studied 91 lupus patients, 63 of whom had CNS symptoms or signs, over 599 pat...

journal_title：Neurology

authors： Futrell N,Schultz LR,Millikan C

更新日期：1992-09-01 00:00:00

abstract：:We evaluated a new magnetic resonance (MR)-based technique for performing volumetric measurements of temporal lobe structures. The technique was designed to assist in making the clinical diagnosis of dementia of the Alzheimer type (DAT). We chose specific anatomic regions of interest because of their known involvement...

journal_title：Neurology

authors： Jack CR Jr,Petersen RC,O'Brien PC,Tangalos EG

更新日期：1992-01-01 00:00:00

abstract：OBJECTIVE:To investigate whether tactile extinction alters the cortical somatosensory activations induced by hand vibration. BACKGROUND:Tactile extinction occurs mainly after right-brain lesions and consists of the inability to perceive a contralesional cutaneous stimulation when a similar stimulus is applied to the m...

journal_title：Neurology

authors： Remy P,Zilbovicius M,Degos JD,Bachoud-Lévi AC,Rancurel G,Cesaro P,Samson Y

更新日期：1999-02-01 00:00:00

abstract：:We evaluated the effects of isoniazid on tremor in 13 patients with MS. Patients were evaluated before treatment, after 1 month of therapy (1,000 mg daily), and 1 month after the last dose. Ten patients improved on at least one of three methods of evaluation. Transient side effects were common, possibly because there ...

journal_title：Neurology

authors： Duquette P,Pleines J,du Souich P

更新日期：1985-12-01 00:00:00