Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome.

abstract：:We analyzed ictal features of psychogenic seizures using video-EEG recordings in 47 patients and reviewed the medical records to determine if patients received antiepileptic drug therapy and whether they were treated pharmacologically for status epilepticus. Unresponsive behavior in the absence of motor manifestations...

journal_title：Neurology

authors： Leis AA,Ross MA,Summers AK

更新日期：1992-01-01 00:00:00

abstract：:Six members of a family had a neurologic disease with autosomal dominant transmission and adolescent onset of progressive wasting of predominantly distal axial muscles and muscles innervated by cranial nerves V, VII, X, and XII, leading to severe morbidity in adulthood. Muscle biopsy of the propositus revealed "ragged...

journal_title：Neurology

authors： Dobkin BH,Verity MA

更新日期：1976-08-01 00:00:00

abstract：OBJECTIVE:To analyze the spectrum and mechanisms of cutaneous adverse events (AEs) in patients with multiple sclerosis treated with daclizumab high-yield process (DAC-HYP). METHODS:A total of 31 participants in an institutional review board-approved open-label phase I study of DAC-HYP (NCT01143441) were prospectively ...

journal_title：Neurology

authors： Cortese I,Ohayon J,Fenton K,Lee CC,Raffeld M,Cowen EW,DiGiovanna JJ,Bielekova B

更新日期：2016-03-01 00:00:00

abstract：OBJECTIVE:To correlate muscle biopsy findings with prebiopsy and postbiopsy clinical course and response to therapy in polymyositis (PM) and sporadic inclusion body myositis (IBM). BACKGROUND:Existence of pure PM has recently been questioned; subsequently, the definition and criteria for diagnosing PM were debated. M...

journal_title：Neurology

authors： Chahin N,Engel AG

更新日期：2008-02-05 00:00:00

abstract：:A moderately retarded Japanese boy, with a normal male karyotype (46,XY), was diagnosed to have a subcortical band heterotopia or double cortex syndrome. The band heterotopia was relatively thick compared with that of other patients reported. On T2-weighted coronal MR sections, there were numerous radial linear struct...

journal_title：Neurology

authors： Ono J,Mano T,Andermann E,Harada K,Sakurai K,Ikeda T,Yoshihara N,Shimizu K,Okada S,Andermann F

更新日期：1997-06-01 00:00:00

abstract：OBJECTIVE:Unilateral temporoparietal injury may result in an attentional deficit for stimuli presented in contralesional space. Thus, bilateral temporoparietal degeneration associated with Alzheimer disease (AD) might result in a bilateral attentional disturbance. Tests for hemispatial neglect, however, primarily asses...

journal_title：Neurology

authors： Kim EJ,Lee BH,Seo SW,Moon SY,Jung DS,Park KH,Heilman KM,Na DL

更新日期：2007-09-11 00:00:00

abstract：OBJECTIVE:Activation of the type 1 interferon (IFN1) pathway is a prominent feature of dermatomyositis (DM) muscle and may play a role in the pathogenesis of this disease. However, the relevance of the IFN1 pathway in patients with other types of myositis such as the antisynthetase syndrome (AS), immune-mediated necrot...

journal_title：Neurology

authors： Pinal-Fernandez I,Casal-Dominguez M,Derfoul A,Pak K,Plotz P,Miller FW,Milisenda JC,Grau-Junyent JM,Selva-O'Callaghan A,Paik J,Albayda J,Christopher-Stine L,Lloyd TE,Corse AM,Mammen AL

更新日期：2019-09-17 00:00:00

abstract：OBJECTIVE:To report the clinical and pelvic CT findings in six patients with obturator mononeuropathy caused by cancer. DESIGN:A clinical case series of six patients followed for 2 months to 10 years (one patient lost to follow-up). SETTING:Three referral centers. PATIENTS:Three men and three women, ages 52 to 81 ye...

journal_title：Neurology

authors： Rogers LR,Borkowski GP,Albers JW,Levin KH,Barohn RJ,Mitsumoto H

更新日期：1993-08-01 00:00:00

abstract：OBJECTIVE:To characterize the molecular basis of a novel fast-channel congenital myasthenic syndrome. METHODS:We used the candidate gene approach to identify the pathogenic mutation in the acetylcholine receptor (AChR) ε subunit, genetically engineered the mutant AChR into HEK cells, and evaluated the level of express...

journal_title：Neurology

authors： Shen XM,Brengman JM,Edvardson S,Sine SM,Engel AG

更新日期：2012-07-31 00:00:00

abstract：BACKGROUND:In cerebral small vessel disease, the core MRI findings include white matter lesions (WML) and lacunar infarcts. While the clinical significance of WML is better understood, the contribution of lacunes to the rate of cognitive decline has not been established. This study investigated whether incident lacunes...

journal_title：Neurology

authors： Jokinen H,Gouw AA,Madureira S,Ylikoski R,van Straaten EC,van der Flier WM,Barkhof F,Scheltens P,Fazekas F,Schmidt R,Verdelho A,Ferro JM,Pantoni L,Inzitari D,Erkinjuntti T,LADIS Study Group.

更新日期：2011-05-31 00:00:00

abstract：OBJECTIVE:To investigate the involvement of the epidermal small sensory fibers in the neurodegenerative process in amyotrophic lateral sclerosis (ALS). METHODS:In the present study, skin biopsies of 28 patients with ALS were obtained at an average of 34 months after disease onset by history. Protein gene product 9.5 (...

journal_title：Neurology

authors： Weis J,Katona I,Müller-Newen G,Sommer C,Necula G,Hendrich C,Ludolph AC,Sperfeld AD

更新日期：2011-06-07 00:00:00

abstract：:Since cytomegalovirus (CMV) has been implicated in the pathogenesis of Rasmussen's syndrome, we treated four patients with ganciclovir, a potent anti-CMV drug. A 7-year-old girl with seizures escalating to 60/day over 3 months despite triple antiepileptic drug therapy became seizure-free 5 days after initiation of tre...

journal_title：Neurology

authors： McLachlan RS,Levin S,Blume WT

更新日期：1996-10-01 00:00:00

abstract：OBJECTIVE:To explore the inflammatory processes in the pathogenesis of psychiatric symptoms and the prognostic value of psychiatric comorbidities in multiple sclerosis (MS). METHODS:Four hundred five patients with relapsing-remitting (RR) MS underwent psychiatric evaluation by means of Beck Depression Inventory II (BD...

journal_title：Neurology

authors： Rossi S,Studer V,Motta C,Polidoro S,Perugini J,Macchiarulo G,Giovannetti AM,Pareja-Gutierrez L,Calò A,Colonna I,Furlan R,Martino G,Centonze D

更新日期：2017-09-26 00:00:00

abstract：OBJECTIVE:To assess resting cerebral blood flow (CBF) in the whole-brain and cerebral white matter (WM) and gray matter (GM) of adults with Fabry disease (FD), using arterial spin labeling (ASL) MRI, and to investigate CBF correlations with WM hyperintensity (WMH) volume and the circulating biomarker lyso-Gb3. METHODS...

journal_title：Neurology

authors： Phyu P,Merwick A,Davagnanam I,Bolsover F,Jichi F,Wheeler-Kingshott C,Golay X,Hughes D,Cipolotti L,Murphy E,Lachmann RH,Werring DJ

更新日期：2018-04-17 00:00:00

abstract：OBJECTIVE:To test the hypothesis that physical activity modifies the association between white matter hyperintensity (WMH) burden and motor function in healthy older persons without dementia. METHODS:Total daily activity (exercise and nonexercise physical activity) was measured for up to 11 days with actigraphy (Actic...

journal_title：Neurology

authors： Fleischman DA,Yang J,Arfanakis K,Arvanitakis Z,Leurgans SE,Turner AD,Barnes LL,Bennett DA,Buchman AS

更新日期：2015-03-31 00:00:00

abstract：OBJECTIVE:The objective of this study was to determine whether environmental and genetic alterations of neuronal aldehyde dehydrogenase (ALDH) enzymes were associated with increased Parkinson disease (PD) risk in an epidemiologic study. METHODS:A novel ex vivo assay was developed to identify pesticides that can inhibi...

journal_title：Neurology

authors： Fitzmaurice AG,Rhodes SL,Cockburn M,Ritz B,Bronstein JM

更新日期：2014-02-04 00:00:00

abstract：OBJECTIVE:To accurately define the electroclinical features of absence seizures in children with newly diagnosed, untreated childhood absence epilepsy (CAE). METHODS:The authors searched an EEG database for absence seizures in normal children with new onset untreated absence epilepsy. Seventy consecutive children were...

journal_title：Neurology

authors： Sadleir LG,Farrell K,Smith S,Connolly MB,Scheffer IE

更新日期：2006-08-08 00:00:00

abstract：:Clinical trials have demonstrated that risk of cardiovascular events may be reduced in patients with stroke, using blood pressure (BP) reduction and statin therapy, independently of the presence of specific risk factors. These results suggest an alternative approach to secondary stroke prevention, focused more on glob...

journal_title：Neurology

authors： Elkind MS

更新日期：2005-07-12 00:00:00

abstract：:We report a Japanese Becker muscular dystrophy (BMD) patient with occasional myalgia and cramps during normal activity that developed at the age of 28 months. His family history was negative for neuromuscular diseases. Muscle biopsy analyses, including dystrophin immunostaining, disclosed no clinically relevant findin...

journal_title：Neurology

authors： Ishigaki C,Patria SY,Nishio H,Yabe M,Matsuo M

更新日期：1996-05-01 00:00:00

abstract：:We reviewed the prognostic significance of preoperative EEG findings in 25 patients who underwent functional hemispherectomy. Bilateral independent epileptogenic foci, found in five patients, generally indicate a less satisfactory outcome, with only three of the five patients becoming seizure free following hemisphere...

journal_title：Neurology

authors： Smith SJ,Andermann F,Villemure JG,Rasmussen TB,Quesney LF

更新日期：1991-11-01 00:00:00

abstract：:Epilepsia partialis continua (EPC) may occur during nonketotic hyperglycemia but has not been described with diabetic ketoacidosis. The authors report a patient with EPC associated with ketotic hyperglycemia. Brain MRI showed two areas of abnormal signal intensity in the left precentral gyrus and in the right cerebell...

journal_title：Neurology

authors： Placidi F,Floris R,Bozzao A,Romigi A,Baviera ME,Tombini M,Izzi F,Sperli F,Marciani MG

更新日期：2001-08-14 00:00:00

abstract：OBJECTIVE:To perform a systematic review and meta-analysis of studies reporting recurrent intracranial hemorrhage (ICH) and ischemic stroke (IS) in ICH survivors with atrial fibrillation (AF) during long-term follow-up. METHODS:A comprehensive literature search including MEDLINE, EMBASE, Cochrane library, clinical tri...

journal_title：Neurology

authors： Korompoki E,Filippidis FT,Nielsen PB,Del Giudice A,Lip GYH,Kuramatsu JB,Huttner HB,Fang J,Schulman S,Martí-Fàbregas J,Gathier CS,Viswanathan A,Biffi A,Poli D,Weimar C,Malzahn U,Heuschmann P,Veltkamp R

更新日期：2017-08-15 00:00:00

abstract：BACKGROUND:Timely recruiting and retaining participants into Alzheimer disease (AD) clinical trials is a challenge. We used conjoint analysis to identify how alterations in attributes of clinical trial design improve willingness to participate: risk, home visits, car service, or increased chance of receiving interventi...

journal_title：Neurology

authors： Karlawish J,Cary MS,Rubright J,Tenhave T

更新日期：2008-12-02 00:00:00

abstract：:We undertook serial clinical and electromyographic muscle action potential (MAP) amplitude assessments in nine patients with the Lambert-Eaton myasthenic syndrome (LEMS) over 0.5 to 2.5 years who received plasma exchange (PE; 5 to 15 exchanges over 4 to 19 days) and immunosuppressive drug (IS) treatment (prednisolone ...

journal_title：Neurology

authors： Newsom-Davis J,Murray NM

更新日期：1984-04-01 00:00:00

abstract：OBJECTIVE:To determine whether comorbidity is associated with clinical (relapses, disability worsening) and MRI outcomes in multiple sclerosis (MS) by conducting a secondary analysis of the CombiRx clinical trial. METHODS:CombiRx compared interferon beta-1a, glatiramer acetate, and the combination of these agents. For...

journal_title：Neurology

authors： Salter A,Kowalec K,Fitzgerald KC,Cutter G,Marrie RA

更新日期：2020-08-04 00:00:00

abstract：:We examined measures of lead dose that reflect intensity of exposure and cumulative exposure for differential association with neuropsychological functional domains and with neuropsychological performance by age. Eighty active lead smelter workers assessed for verbal memory and visuomotoric skills had a mean (range) a...

journal_title：Neurology

authors： Bleecker ML,Lindgren KN,Ford DP

更新日期：1997-03-01 00:00:00

abstract：BACKGROUND:Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease with putative autosomal dominant and autosomal recessive inheritance. Patients with OPDM present with progressive ocular, pharyngeal, and distal limb muscle involvement. The genetic defect causing OPDM has ...

journal_title：Neurology

authors： Durmus H,Laval SH,Deymeer F,Parman Y,Kiyan E,Gokyigiti M,Ertekin C,Ercan I,Solakoglu S,Karcagi V,Straub V,Bushby K,Lochmüller H,Serdaroglu-Oflazer P

更新日期：2011-01-18 00:00:00

abstract：OBJECTIVE:To study and provide an update on the state of clinical research in neurology in the United States. METHODS:US American Academy of Neurology members and chairs of departments of neurology were surveyed regarding clinical research in 2016. NIH data on the neuroscience pipeline and extramural grant funding wer...

journal_title：Neurology

authors： Hall DA,Ramos AR,Gelfand JM,Videnovic A,Benatar M,Cahill C,Kluger BM,Goldman M

更新日期：2018-04-10 00:00:00

abstract：OBJECTIVE:To describe the epidemiology, etiology, clinical characteristics, treatment, outcome, and prevention of zoonotic bacterial meningitis in human adults. METHODS:We identified 16 zoonotic bacteria causing meningitis in adults. RESULTS:Zoonotic bacterial meningitis is uncommon compared to bacterial meningitis c...

journal_title：Neurology

authors： van Samkar A,Brouwer MC,van der Ende A,van de Beek D

更新日期：2016-09-13 00:00:00

abstract：:We report 9 cases of aphasia following lesions in the region of the left frontal operculum. It is not possible to capture their variety of clinical manifestations with the simple labels of "Broca's area aphasia." or "Broca's area aphasia." Analysis of the breakdown of various components of speech and language in these...

journal_title：Neurology

authors： Alexander MP,Naeser MA,Palumbo C

更新日期：1990-02-01 00:00:00