Inborn errors of urea synthesis.

abstract：:Striatal particulate preparations, both from rats with lesion-induced striatal dopamine (DA) loss and from some striatal dopamine (DA) loss and from some patients with Parkinson's disease, exhibit increased 3H-neuroleptic binding, which is interpreted to be the mechanism of denervation-induced behavioral supersensitiv...

journal_title：Annals of neurology

authors： Bennett JP Jr,Wooten GF

更新日期：1986-04-01 00:00:00

abstract：:The pharmacokinetics of levodopa (L-dopa) in plasma and in cisternal and lumbar cerebrospinal fluid (CSF) were studied in Rhesus monkeys that were given 2- to 3-hour intravenous infusions of L-dopa. Steady-state L-dopa concentrations in cisternal CSF correlated well with plasma levels, and yielded a CSF:plasma ratio o...

journal_title：Annals of neurology

authors： Hammerstad JP,Woodward WR,Gliessman P,Boucher B,Nutt JG

更新日期：1990-05-01 00:00:00

abstract：:We report early-onset parkinsonism and dementia of 18 years' duration in a 52-year-old man whose grandfather and father had suffered from a similar neurological disease. In this patient, we found neuronal loss in various brain regions including the substantia nigra and cerebral cortex, Lewy bodies, cotton wool plaques...

journal_title：Annals of neurology

authors： Ishikawa A,Piao YS,Miyashita A,Kuwano R,Onodera O,Ohtake H,Suzuki M,Nishizawa M,Takahashi H

更新日期：2005-03-01 00:00:00

abstract：:Association studies have implicated common variants in the 12q14.1 region containing CYP27B1 in multiple sclerosis (MS). Rare CYP27B1 mutations cause autosomal recessive vitamin D-dependent rickets type 1, and it has recently been reported that heterozygous CYP27B1 mutations are associated with increased MS susceptibi...

journal_title：Annals of neurology

authors： Barizzone N,Pauwels I,Luciano B,Franckaert D,Guerini FR,Cosemans L,Hilven K,Salviati A,Dooley J,Danso-Abeam D,di Sapio A,Cavalla P,Decallonne B,Mathieu C,Liston A,Leone M,Dubois B,D'Alfonso S,Goris A

更新日期：2013-03-01 00:00:00

abstract：OBJECTIVE:Both animal and human data suggest that noradrenergic stimulation may enhance motor performance after brain damage. We conducted a placebo-controlled, double-blind and crossover design study to investigate the effects of noradrenergic stimulation on the cortical motor system in hemiparetic stroke patients. M...

journal_title：Annals of neurology

authors： Wang LE,Fink GR,Diekhoff S,Rehme AK,Eickhoff SB,Grefkes C

更新日期：2011-02-01 00:00:00

abstract：:We report an immunohistochemical study of the mitochondrial alpha-ketoglutarate dehydrogenase complex (KGDHC) in the substantia nigra in Parkinson's disease. The KGDHC, the three enzyme complex catalyzing the oxidation of alpha-ketoglutarate to succinate through succinic semialdehyde, is the rate-regulating enzyme of ...

journal_title：Annals of neurology

authors： Mizuno Y,Matuda S,Yoshino H,Mori H,Hattori N,Ikebe S

更新日期：1994-02-01 00:00:00

abstract：:The regional metabolic rate for glucose (rMRglu) was studied in macaque monkeys after spinal cord transection at T10, both during spinal shock and after reflexes had returned. The rMRglu was measured in all Rexed layers in cord segments both caudal and rostral to the level of the transection utilizing the quantitative...

journal_title：Annals of neurology

authors： Schwartzman RJ,Eidelberg E,Alexander GM,Yu J

更新日期：1983-07-01 00:00:00

abstract：:Instrumental neutron activation analysis procedures were used to determine the aluminum content of various brain regions in histologically verified Alzheimer disease (AD) and in controls. The grand mean aluminum level for 74 AD specimens was 0.372 +/- 0.058 microgram/gm and for 137 adult controls, 0.467 +/- 0.033 micr...

journal_title：Annals of neurology

authors： Markesbery WR,Ehmann WD,Hossain TI,Alauddin M,Goodin DT

更新日期：1981-12-01 00:00:00

abstract：:Intraneural perineuriomas are benign peripheral nerve sheath tumors that cause progressive debilitating focal extremity weakness. The etiology of perineuriomas is largely unknown. We utilized whole exome sequencing, copy number algorithm evaluation, and high-resolution whole genome microarray to investigate for a gene...

journal_title：Annals of neurology

authors： Klein CJ,Wu Y,Jentoft ME,Mer G,Spinner RJ,Dyck PJ,Dyck PJ,Mauermann ML

更新日期：2017-02-01 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：:Fourteen children with brain tumors received endocrine evaluations at least one year following completion of cranial irradiation. Treatment consisted of operation (13 patients), craniospinal irradiation (6), whole brain irradiation (5), posterior fossa irradiation (3), and chemotherapy (10). Endocrine evaluation inclu...

journal_title：Annals of neurology

authors： Duffner PK,Cohen ME,Anderson SW,Voorhess ML,MacGillivray MH,Panahon A,Brecher ML

更新日期：1983-11-01 00:00:00

abstract：OBJECTIVE:The risk for symptomatic intracerebral hemorrhage (sICH) associated with thrombolytic treatment has not been evaluated in large studies using diffusion-weighted imaging (DWI). Here, we investigated the relation between pretreatment DWI lesion size and the risk for sICH after thrombolysis. METHODS:In this ret...

journal_title：Annals of neurology

authors： Singer OC,Humpich MC,Fiehler J,Albers GW,Lansberg MG,Kastrup A,Rovira A,Liebeskind DS,Gass A,Rosso C,Derex L,Kim JS,Neumann-Haefelin T,MR Stroke Study Group Investigators.

更新日期：2008-01-01 00:00:00

abstract：OBJECTIVE:The Ts65Dn (Ts) mouse model of Down syndrome (DS) is exquisitely sensitive to an infantile spasms phenotype induced by γ-aminobutyric acidB receptor (GABAB R) agonists. The Ts mouse contains the core genomic triplication of the DS critical region, which includes 3 copies of the Kcnj6 gene that encodes the GAB...

journal_title：Annals of neurology

authors： Joshi K,Shen L,Michaeli A,Salter M,Thibault-Messier G,Hashmi S,Eubanks JH,Cortez MA,Snead OC

更新日期：2016-10-01 00:00:00

abstract：OBJECTIVE:Clinical outcomes in multiple sclerosis (MS) are highly variable. We aim to determine the long-term clinical outcomes in MS, and to identify early prognostic features of these outcomes. METHODS:One hundred thirty-two people presenting with a clinically isolated syndrome were prospectively recruited between 1...

journal_title：Annals of neurology

authors： Chung KK,Altmann D,Barkhof F,Miszkiel K,Brex PA,O'Riordan J,Ebner M,Prados F,Cardoso MJ,Vercauteren T,Ourselin S,Thompson A,Ciccarelli O,Chard DT

更新日期：2020-01-01 00:00:00

abstract：:Mitochondria are cellular organelles crucial for energy supply and calcium homeostasis in neuronal cells, and their dysfunction causes seizure activity in some rare human epilepsies. To directly test whether mitochondrial respiratory chain enzymes are abnormal in the most common form of chronic epilepsy, temporal lobe...

journal_title：Annals of neurology

authors： Kunz WS,Kudin AP,Vielhaber S,Blümcke I,Zuschratter W,Schramm J,Beck H,Elger CE

更新日期：2000-11-01 00:00:00

abstract：:The causes of amyotrophic lateral sclerosis, Parkinson disease, and Alzheimer disease are unknown. Furthermore, treatment for two of these conditions is almost totally lacking. The thesis is presented that each of these disorders is due to lack of a disorder-specific neurotrophic hormone. The hormone would be elaborat...

journal_title：Annals of neurology

authors： Appel SH

更新日期：1981-12-01 00:00:00

abstract：:Mutations of copper,zinc-superoxide dismutase (cu,zn SOD) are found in patients with a familial form of amyotrophic lateral sclerosis. When expressed in transgenic mice, mutant human cu,zn SOD causes progressive loss of motor neurons with consequent paralysis and death. Expression profiling of gene expression in SOD1-...

journal_title：Annals of neurology

authors： Olsen MK,Roberds SL,Ellerbrock BR,Fleck TJ,McKinley DK,Gurney ME

更新日期：2001-12-01 00:00:00

abstract：OBJECTIVE:Chronic, low-dose exposure to pesticides is suspected to increase the risk for Parkinson's disease (PD), but data are inconclusive. METHODS:We prospectively examined whether individuals exposed to pesticides have higher risk for PD than those not exposed. The study population comprised participants in the Ca...

journal_title：Annals of neurology

authors： Ascherio A,Chen H,Weisskopf MG,O'Reilly E,McCullough ML,Calle EE,Schwarzschild MA,Thun MJ

更新日期：2006-08-01 00:00:00

abstract：:Cerebrospinal fluid and plasma vasopressin were measured in patients with cerebral disorders associated with varying levels of elevated intracranial pressure. The mean cerebrospinal fluid vasopressin concentration was significantly increased in patients with pseudotumor cerebri (2.0 +/- 0.2 [SEM] pg/ml), intracranial ...

journal_title：Annals of neurology

authors： Sørensen PS,Gjerris F,Hammer M

更新日期：1984-05-01 00:00:00

abstract：:Localized water-suppressed 1H magnetic resonance spectroscopy was performed in an 11-month-old infant with Leigh syndrome. Spectra obtained from the basal ganglia, occipital cortex, and brainstem showed elevations in lactate, which were most pronounced in regions where abnormalities were seen with routine T2-weighted ...

journal_title：Annals of neurology

authors： Detre JA,Wang ZY,Bogdan AR,Gusnard DA,Bay CA,Bingham PM,Zimmerman RA

更新日期：1991-02-01 00:00:00

abstract：:Several mutations in the amyloid precursor protein (APP) gene have been found to associate with pathologic deposition of the beta-amyloid peptide (Abeta) in neuritic plaques or in the walls of cerebral vessels. We report a mutation at a novel site in APP in a three-generation Iowa family with autosomal dominant dement...

journal_title：Annals of neurology

authors： Grabowski TJ,Cho HS,Vonsattel JP,Rebeck GW,Greenberg SM

更新日期：2001-06-01 00:00:00

abstract：:One hundred fifty autopsy brains from patients with clinically diagnosed Alzheimer's disease (AD) were examined pathologically. The brains were received consecutively over a 3-year period from numerous sources as part of a research program in which one brain half was frozen for biochemical studies and the other half w...

journal_title：Annals of neurology

authors： Joachim CL,Morris JH,Selkoe DJ

更新日期：1988-07-01 00:00:00

abstract：:Four hundred five children from the Helsinki area who were 1 month to 16 years old were treated for acute encephalitis at the Children's Hospital, University of Helsinki, from January 1968 through December 1987. Encephalitis occurred most commonly in children 1 to 1.9 years of age, among whom the incidence was 16.7 pe...

journal_title：Annals of neurology

authors： Koskiniemi M,Rautonen J,Lehtokoski-Lehtiniemi E,Vaheri A

更新日期：1991-05-01 00:00:00

abstract：:Subcutaneous application of interferon-beta1b (IFN-beta1b) is an established therapy for patients with relapsing-remitting multiple sclerosis (RRMS), but early side effects are still a major concern. In vitro studies with myelin basic protein (MBP)-specific T-cell lines revealed a synergistic suppressive effect of IFN...

journal_title：Annals of neurology

authors： Weber F,Polak T,Günther A,Kubuschok B,Janovskaja J,Bitsch A,Poser S,Rieckmann P

更新日期：1998-07-01 00:00:00

abstract：:To elucidate the mechanism by which carbamazepine lowers somatostatin concentration in cerebrospinal fluid of humans, the effect of carbamazepine on secretion of this peptide was studied in rat cerebral cell cultures. Concentrations of carbamazepine within the therapeutic range (4 x 10(-5) M) inhibited spontaneous rel...

journal_title：Annals of neurology

authors： Reichlin S,Mothon S

更新日期：1991-04-01 00:00:00

abstract：:Deposition of fibrillar amyloid beta protein (A beta) is increased in brains of patients with Alzheimer's disease. Concentrations of A beta were measured in cerebrospinal fluid with an enzyme-linked immunosorbent assay in 10 neurological patients free from neurodegenerative disease, 28 patients with Parkinson's diseas...

journal_title：Annals of neurology

authors： van Gool WA,Kuiper MA,Walstra GJ,Wolters EC,Bolhuis PA

更新日期：1995-02-01 00:00:00

abstract：:Two family members with hereditary pressure-sensitive neuropathy are reported. One patient presented atypically with acute brachial plexus neuropathy following transaxillary removal of the first rib. Electrophysiological studies showed slowing of motor nerve conduction in clinically affected and unaffected nerves. In ...

journal_title：Annals of neurology

authors： Bosch EP,Chui HC,Martin MA,Cancilla PA

更新日期：1980-12-01 00:00:00

abstract：:Human T-lymphotropic virus type I (HTLV-I) has been associated with adult T-cell leukemia/lymphoma (ATL), a malignancy of mature CD4-positive lymphocytes, and with tropical spastic paraparesis (TSP), a demyelinating neurological syndrome. This article describes the clinical and pathological features of ATL and reviews...

journal_title：Annals of neurology

authors： Murphy EL,Blattner WA

更新日期：1988-01-01 00:00:00

abstract：:Progressive multifocal leukoencephalopathy is the most common clinical presentation of JC virus (JCV)-associated central nervous system (CNS) disease and has emerged as a major safety concern in multiple sclerosis patients treated with the monoclonal antibody natalizumab. Here we report clinical, radiological, and his...

journal_title：Annals of neurology

authors： Schippling S,Kempf C,Büchele F,Jelcic I,Bozinov O,Bont A,Linnebank M,Sospedra M,Weller M,Budka H,Martin R

更新日期：2013-10-01 00:00:00

abstract：:A family with Gerstmann-Sträussler-Scheinker disease had coincidental clinical onset in three members of two generations, a phenomenon suggesting a common source of a transmissible agent. A regular dietary supplement in this family was home-bred rabbit. The clinical picture, although generally similar to that in previ...

journal_title：Annals of neurology

authors： Hudson AJ,Farrell MA,Kalnins R,Kaufmann JC

更新日期：1983-12-01 00:00:00