Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype.

abstract：:A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, short stature, ataxia, cardiac conduction defects, and pigmentary retinopathy. Muscle biopsy revealed ragged-red fibers. Electron microscopy showed increased numbers of mitochondria with disordered structure and paracrystalline...

journal_title：Neurology

authors： Rivner MH,Shamsnia M,Swift TR,Trefz J,Roesel RA,Carter AL,Yanamura W,Hommes FA

更新日期：1989-05-01 00:00:00

abstract：:Placebo, or sham surgery, as a control condition in surgical clinical trials in Parkinson disease (PD) remains controversial. The authors reviewed the adverse effects reported in double blind, placebo surgery controlled trials for PD. Placebo surgeries were generally safe and well tolerated but the number of subjects ...

journal_title：Neurology

authors： Frank S,Kieburtz K,Holloway R,Kim SY

更新日期：2005-10-11 00:00:00

abstract：OBJECTIVE:Clinical trials of fetal neural tissue transplantation for Huntington disease (HD) have been conducted with variable clinical results. However, no long-term analysis of graft survival and integration has been published. Here, we report the pathologic findings in two patients with HD who died 74 and 79 months ...

journal_title：Neurology

authors： Keene CD,Sonnen JA,Swanson PD,Kopyov O,Leverenz JB,Bird TD,Montine TJ

更新日期：2007-06-12 00:00:00

abstract：OBJECTIVES:To investigate the role of beta oscillations in urinary voiding and their association with lower urinary tract symptoms in Parkinson disease (PD). METHODS:We used surgically implanted deep brain stimulation electrodes to record local field potential signals from the subthalamic nucleus (STN) and globus pall...

journal_title：Neurology

authors： Roy HA,Aziz TZ,Fitzgerald JJ,Green AL

更新日期：2018-04-24 00:00:00

abstract：:Mitoxantrone is the first drug approved for the treatment of secondary progressive multiple sclerosis (SPMS) in the United States. This assessment considers use of mitoxantrone in the treatment of MS. Mitoxantrone probably reduces the clinical attack rate and reduces attack-related MRI outcomes in patients with relaps...

journal_title：Neurology

authors： Goodin DS,Arnason BG,Coyle PK,Frohman EM,Paty DW,Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology.

更新日期：2003-11-25 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：OBJECTIVE:To assess the determinants of amyotrophic lateral sclerosis (ALS) phenotypes in a population-based cohort. METHODS:The study population included 2,839 patients with ALS diagnosed in Piemonte, Italy (1995-2015). Patients were classified according to motor (classic, bulbar, flail arm, flail leg, predominantly ...

journal_title：Neurology

authors： Chiò A,Moglia C,Canosa A,Manera U,D'Ovidio F,Vasta R,Grassano M,Brunetti M,Barberis M,Corrado L,D'Alfonso S,Iazzolino B,Peotta L,Sarnelli MF,Solara V,Zucchetti JP,De Marchi F,Mazzini L,Mora G,Calvo A

更新日期：2020-02-25 00:00:00

abstract：OBJECTIVE:To determine the role of oxidative stress in mediating HIV dementia and to identify novel therapeutic compounds that may block this oxidative stress. METHODS:Brain tissue from patients with HIV encephalitis and macaques with simian immune deficiency virus encephalitis was immunostained for lipid peroxidation...

journal_title：Neurology

authors： Turchan J,Pocernich CB,Gairola C,Chauhan A,Schifitto G,Butterfield DA,Buch S,Narayan O,Sinai A,Geiger J,Berger JR,Elford H,Nath A

更新日期：2003-01-28 00:00:00

abstract：:A patient with thymoma-associated neuromyotonia and voltage-gated potassium channel (Kv1.2 and Kv1.6) antibodies by immunoprecipitation and rat brain immunolabeling was treated successfully with immunoadsorption and cyclophosphamide. Curiously, glutamic acid decarboxylase antibodies, absent at onset, appeared later. S...

journal_title：Neurology

authors： Antozzi C,Frassoni C,Vincent A,Regondi MC,Andreetta F,Bernasconi P,Ciano C,Chang T,Cornelio F,Spreafico R,Mantegazza R

更新日期：2005-04-12 00:00:00

abstract：:We studied the effect of deep brain stimulation (DBS) of the ventral intermediate thalamic nucleus on voice symptoms in seven patients with essential tremor. All had undergone DBS for management of hand tremor. Five of the patients had received unilateral implants; two were treated bilaterally. Each reported improveme...

journal_title：Neurology

authors： Carpenter MA,Pahwa R,Miyawaki KL,Wilkinson SB,Searl JP,Koller WC

更新日期：1998-03-01 00:00:00

abstract：OBJECTIVE:To identify presurgical and postsurgical factors that are independently predictive of the outcome of anterior temporal lobectomy (ATL) for intractable epilepsy. BACKGROUND:There have been reports of prognostic factors in epilepsy surgery, but little is known about factors that independently predict outcome o...

journal_title：Neurology

authors： Radhakrishnan K,So EL,Silbert PL,Jack CR Jr,Cascino GD,Sharbrough FW,O'Brien PC

更新日期：1998-08-01 00:00:00

abstract：:The incidence of contrast-induced nephropathy was examined in 1,075 patients receiving routine CT angiography and CT perfusion brain imaging at a single institution. Fifty-two patients had a creatinine rise of > or =0.5 mg/dL. In four patients (0.37%), the administration of IV contrast medium possibly contributed to r...

journal_title：Neurology

authors： Josephson SA,Dillon WP,Smith WS

更新日期：2005-05-24 00:00:00

abstract：:Lafora disease is a teenage onset progressive myoclonus epilepsy caused by mutations in the EPM2A gene. In this report, we describe new mutations within EPM2A, review the known mutations to date to identify the most common, and describe three simple tests for prenatal and carrier screening. ...

journal_title：Neurology

authors： Minassian BA,Ianzano L,Delgado-Escueta AV,Scherer SW

更新日期：2000-01-25 00:00:00

abstract：:We investigated the possible role of potassium deficiency, a recognized cause of myopathy, in the pathogenesis of experimental acute alcoholic myopathy (EAM) in the rat. Alcohol-treated animals receiving the same dietary potassium as controls developed mild hypokalemia; however, muscle potassium was preserved or eleva...

journal_title：Neurology

authors： Haller RG,Carter NW,Ferguson E,Knochel JP

更新日期：1984-04-01 00:00:00

abstract：:Adult-onset dystonia-parkinsonism is a syndrome in search of a pathology. We therefore reviewed the literature on dystonic manifestations in autopsy-proven cases of multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and idiopathic Parkinson's disease (PD). Only 6 of 140 autopsy reports of MSA remarke...

journal_title：Neurology

authors： Rivest J,Quinn N,Marsden CD

更新日期：1990-10-01 00:00:00

abstract：:The authors estimated the sample sizes needed for exploratory trials of MS assessing the efficacy of new treatments in reducing the number of new enhancing lesions vs those of interferon-beta or glatiramer acetate. The sample sizes per arm ranged from 868 (effect: 20%) to 94 (effect: 50%) for patients with relapsing-r...

journal_title：Neurology

authors： Sormani MP,Rovaris M,Bagnato F,Molyneux P,Bruzzi P,Pozzilli C,Miller DH,Comi G,Filippi M

更新日期：2001-11-27 00:00:00

abstract：:Duchenne muscular dystrophy manifested in one of girl twins. The twins were monozygous on the basis of red cell and HL antigens and skin graft compatibility. Karyotyping, including banding techniques, showed a normal number of chromosomes and a normal configuration of the X-chromosome in both twins. The twins were ide...

journal_title：Neurology

authors： Gomez MR,Engel AG,Dewald G,Peterson HA

更新日期：1977-06-01 00:00:00

abstract：:We enrolled 116 patients in a multicenter, randomized, double-blind controlled trial of an 8-week course of 11 plasma exchange (PE) treatments in exacerbations of MS. The control group received sham PE, and both groups received identical treatment with IM ACTH and oral cyclophosphamide. Serum IgG decreased in the PE a...

journal_title：Neurology

authors： Weiner HL,Dau PC,Khatri BO,Petajan JH,Birnbaum G,McQuillen MP,Fosburg MT,Feldstein M,Orav EJ

更新日期：1989-09-01 00:00:00

abstract：OBJECTIVE:To survey brain death criteria throughout the world. BACKGROUND:The clinical diagnosis of brain death allows organ donation or withdrawal of support. Declaration of brain death follows a certain set of examinations. The code of practice throughout the world has not been systematically investigated. METHODS:...

journal_title：Neurology

authors： Wijdicks EF

更新日期：2002-01-08 00:00:00

abstract：:We transplanted autologous adrenal medullary tissue into the caudate nucleus of 3 patients with advanced Parkinson's disease. The 1st patient, a 59-year-old man with parkinsonian symptoms for 15 years, had mild improvement in his motor functioning after the operation. However, his postoperative course was characterize...

journal_title：Neurology

authors： Jankovic J,Grossman R,Goodman C,Pirozzolo F,Schneider L,Zhu Z,Scardino P,Garber AJ,Jhingran SG,Martin S

更新日期：1989-09-01 00:00:00

abstract：:Ciliary neurotrophic factor (CNTF) is a neuroactive cytokine found in Schwann cells, which appears to be released in response to nerve injury. The ALS CNTF Treatment Study (ACTS) clinical trial was a phase II-III randomized, placebo-controlled, double-blind study designed to evaluate the safety, tolerability, and effi...

journal_title：Neurology

authors：

更新日期：1996-05-01 00:00:00

abstract：BACKGROUND:Recent studies demonstrated an excess of winter births in children with brain tumors and in adults with various neurologic or psychiatric diseases relative to the general population. OBJECTIVE:To investigate a possible association between month of birth and risk of brain tumors in adults using data from a l...

journal_title：Neurology

authors： Brenner AV,Linet MS,Shapiro WR,Selker RG,Fine HA,Black PM,Inskip PD

更新日期：2004-07-27 00:00:00

abstract：:The effect of bilateral frontal leukotomy on motor function was evaluated by neurologic examination, tests of praxis, and appropriate neuropsychologic tests administered to five groups of subjects. Postleukotomy schizophrenic patients were subdivided into three degrees of recovery. Two nonleukotomized groups served as...

journal_title：Neurology

authors： Benson DF,Stuss DT

更新日期：1982-12-01 00:00:00

abstract：:Data from the Aspirin in Transient Ischemic Attack (AITIA) study, an ongoing study of two platelet antiaggregant drugs, and other published therapeutic trials were reviewed to determine whether the severity of stroke is reduced in patients taking platelet antiaggregants. Data from three of four studies suggest that st...

journal_title：Neurology

authors： Grotta JC,Lemak NA,Gary H,Fields WS,Vital D

更新日期：1985-05-01 00:00:00

abstract：:The antimigraine efficacy of many drugs may be mediated less through their primary modes of action than through the common pathway of serotonergic transmission stabilization. Migraine treatment may be symptomatic, acute/abortive, or prophylactic. Because oral drug absorption is impaired during attacks, parenteral agen...

journal_title：Neurology

authors： Raskin NH

更新日期：1993-06-01 00:00:00

abstract：OBJECTIVE:To determine the current best practice for treatment of infantile spasms in children. METHODS:Database searches of MEDLINE from 1966 and EMBASE from 1980 and searches of reference lists of retrieved articles were performed. Inclusion criteria were the documented presence of infantile spasms and hypsarrhythmi...

journal_title：Neurology

authors： Mackay MT,Weiss SK,Adams-Webber T,Ashwal S,Stephens D,Ballaban-Gill K,Baram TZ,Duchowny M,Hirtz D,Pellock JM,Shields WD,Shinnar S,Wyllie E,Snead OC 3rd,American Academy of Neurology.,Child Neurology Society.

更新日期：2004-05-25 00:00:00

abstract：:Compressive neuropathy due to tight application of handcuffs occurred in 5 patients. The superficial radial nerve was affected in 8 hands and the median nerve in two. Neurologic deficits persisted as long as 3 years after handcuffing. Nerve conduction studies helped to exclude malingering and other diagnoses. All pati...

journal_title：Neurology

authors： Stone DA,Laureno R

更新日期：1991-01-01 00:00:00

abstract：OBJECTIVE:To investigate clinical and economic consequences following generic substitution of one vs multiple generics of topiramate (Topamax; Ortho-McNeil Neurologics, Titusville, NJ). METHODS:Medical and pharmacy claims data of Régie de l'Assurance-Maladie du Québec from January 2006 to October 2007 were used. Patie...

journal_title：Neurology

authors： Duh MS,Paradis PE,Latrémouille-Viau D,Greenberg PE,Lee SP,Durkin MB,Wan GJ,Rupnow MF,LeLorier J

更新日期：2009-06-16 00:00:00

abstract：:We present a method for graphically reporting the results of brainstem auditory evoked response examinations on the basis of multiple parameters. The method is based on a transform that normalizes the many latency and amplitude measures obtained from the averaged evoked responses of normal subjects tested under standa...

journal_title：Neurology

authors： Lolas F,Hoeppner TJ,Morrell F

更新日期：1979-02-01 00:00:00

abstract：:To evaluate possible progressive metabolic changes in Duchenne muscular dystrophy, we used 31P nuclear magnetic resonance spectroscopy to measure high-energy phosphate compounds and phosphorylated diesters (PDE) in resting gastrocnemius muscle of 14 Duchenne patients and 10 normal boys. The patients had higher inorgan...

journal_title：Neurology

authors： Younkin DP,Berman P,Sladky J,Chee C,Bank W,Chance B

更新日期：1987-01-01 00:00:00