Genome-wide variant by serum urate interaction in Parkinson's disease.

abstract：OBJECTIVE:Mutations in the genes encoding the extracellular matrix protein collagen VI (ColVI) cause a spectrum of disorders with variable inheritance including Ullrich congenital muscular dystrophy, Bethlem myopathy, and intermediate phenotypes. We extensively characterized, at the clinical, cellular, and molecular le...

journal_title：Annals of neurology

authors： Briñas L,Richard P,Quijano-Roy S,Gartioux C,Ledeuil C,Lacène E,Makri S,Ferreiro A,Maugenre S,Topaloglu H,Haliloglu G,Pénisson-Besnier I,Jeannet PY,Merlini L,Navarro C,Toutain A,Chaigne D,Desguerre I,de Die-Smulders C

更新日期：2010-10-01 00:00:00

abstract：:In a prospective study, we repeatedly recorded fast goal-directed wrist movements of 8 patients who had experienced an acute cerebellar hypermetria due to a stroke and who had subsequently recovered clinically. Movements and the associated agonist and antagonist electromyographic (EMG) activities were recorded before ...

journal_title：Annals of neurology

authors： Manto M,Jacquy J,Hildebrand J,Godaux E

更新日期：1995-09-01 00:00:00

abstract：:The reported inverse association between the S18Y variant of the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) gene and Parkinson's disease (PD) has strong biological plausibility. If confirmed, genetic association of this variant with PD may support molecular targeting of the UCHL1 gene and its product as a therape...

journal_title：Annals of neurology

authors： Maraganore DM,Lesnick TG,Elbaz A,Chartier-Harlin MC,Gasser T,Krüger R,Hattori N,Mellick GD,Quattrone A,Satoh J,Toda T,Wang J,Ioannidis JP,de Andrade M,Rocca WA,UCHL1 Global Genetics Consortium.

更新日期：2004-04-01 00:00:00

abstract：OBJECTIVE:Mutations of the selenoprotein N gene (SEPN1) cause SEPN1-related myopathy (SEPN1-RM), a novel early-onset muscle disorder formerly divided into four different nosological categories. Selenoprotein N (SelN) is the only selenoprotein involved in a genetic disease; its function being unknown, no treatment is av...

journal_title：Annals of neurology

authors： Arbogast S,Beuvin M,Fraysse B,Zhou H,Muntoni F,Ferreiro A

更新日期：2009-06-01 00:00:00

abstract：:Guillain-Barré syndrome (GBS) is a recognized entity for which the basis for diagnosis is descriptive in our present state of knowledge. Diagnosis rests upon pattern recognition of the clinical picture plus other features including elevated cerebrospinal fluid protein level, electrophysiological changes of marked slow...

journal_title：Annals of neurology

authors： Asbury AK

更新日期：1981-01-01 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：OBJECTIVE:Newer magnetic resonance imaging (MRI) techniques have shown promise in capturing early Parkinson disease (PD)-related changes in the substantia nigra pars compacta (SNc), the key pathological loci. Their translational value, however, is hindered by technical complexity and inconsistent results. METHODS:A no...

journal_title：Annals of neurology

authors： Du G,Lewis MM,Sica C,Kong L,Huang X

更新日期：2019-01-01 00:00:00

abstract：:It has been known for some time that patients with Parkinson's disease (PD) have difficulty executing simultaneous motor acts, yet the pathophysiology underlying this impairment remains uncertain. We examined the possibility that these dual-task deficits stem from defective sensorimotor mechanisms producing interferen...

journal_title：Annals of neurology

authors： Caligiuri MP,Heindel WC,Lohr JB

更新日期：1992-01-01 00:00:00

abstract：:Knowledge about the balance between heritable and nonheritable risk in multiple sclerosis (MS) is based on twin studies in high-prevalence areas. In a study that avoided ascertainment limitations and directly compared continental Italy (medium-prevalence) and Sardinia (high-prevalence), we ascertained 216 pairs from 3...

journal_title：Annals of neurology

authors： Ristori G,Cannoni S,Stazi MA,Vanacore N,Cotichini R,Alfò M,Pugliatti M,Sotgiu S,Solaro C,Bomprezzi R,Di Giovanni S,Figà Talamanca L,Nisticò L,Fagnani C,Neale MC,Cascino I,Giorgi G,Battaglia MA,Buttinelli C,Tosi R,

更新日期：2006-01-01 00:00:00

abstract：:Reductions in cerebral metabolism sufficient to impair cognition in normal individuals also occur in Alzheimer's disease (AD). The degree of clinical disability in AD correlates closely to the magnitude of the reduction in brain metabolism. Therefore, we tested whether impairments in tricarboxylic acid (TCA) cycle enz...

journal_title：Annals of neurology

authors： Bubber P,Haroutunian V,Fisch G,Blass JP,Gibson GE

更新日期：2005-05-01 00:00:00

abstract：:The activities of complex I and complex II/III in platelet mitochondria are reduced in patients with early, untreated Parkinson's disease. Coenzyme Q10 is the electron acceptor for complex I and complex II. We found that the level of coenzyme Q10 was significantly lower in mitochondria from parkinsonian patients than ...

journal_title：Annals of neurology

authors： Shults CW,Haas RH,Passov D,Beal MF

更新日期：1997-08-01 00:00:00

abstract：:The developmental sequence of sleep cycles has been found to be a useful index of central nervous system maturation in premature infants. To determine the effects of severe reversible stress on the maturation of sleep cycles, 6- to 8-hour sleep studies were done on 10 premature infants with severe hyaline membrane dis...

journal_title：Annals of neurology

authors： Holmes GL,Logan WJ,Kirkpatrick BV,Meyer EC

更新日期：1979-12-01 00:00:00

abstract：:Amphiphysin-IgG was identified in 71 patients among 120,000 evaluated serologically for paraneoplastic autoantibodies. Clinical information was available for 63 patients. Cancer was detected in 50 (mostly limited), proven histologically in 46, and was imaged intrathoracically in 4 patients (lung, small-cell [27] and n...

journal_title：Annals of neurology

authors： Pittock SJ,Lucchinetti CF,Parisi JE,Benarroch EE,Mokri B,Stephan CL,Kim KK,Kilimann MW,Lennon VA

更新日期：2005-07-01 00:00:00

abstract：:Growth hormone (GH) is neuroprotective, presumably through its actions on GH receptor-mediated pathways. Here, we examined the effects of GH using in vitro and in vivo assays of human immunodeficiency virus (HIV)-induced neuronal injury. Neuronal cultures were in assays of neurotoxicity induced by supernatants from HI...

journal_title：Annals of neurology

authors： Silva C,Zhang K,Tsutsui S,Holden JK,Gill MJ,Power C

更新日期：2003-11-01 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：:The aim of this study was to evaluate the use of functional magnetic resonance imaging as an alternative to intraoperative electrocortical stimulation mapping for the localization of critical language areas in the temporoparietal region. We investigated several requirements that functional magnetic resonance imaging m...

journal_title：Annals of neurology

authors： Rutten GJ,Ramsey NF,van Rijen PC,Noordmans HJ,van Veelen CW

更新日期：2002-03-01 00:00:00

abstract：:Four patients, aged 7-20 years, suffered from recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. Using homozygosity mapping, a pathogenic missense mutation in the SLC25A19 gene that encodes the mitochondrial thiamine pyrophosph...

journal_title：Annals of neurology

authors： Spiegel R,Shaag A,Edvardson S,Mandel H,Stepensky P,Shalev SA,Horovitz Y,Pines O,Elpeleg O

更新日期：2009-09-01 00:00:00

abstract：:Axonal transport was studied in sciatic motor neurons of rats with neuropathy induced by p-bromophenylacetylurea (BPAU) in dimethylsulfoxide solution. Control rats were treated with the vehicle alone. To label rapidly transported proteins, the rats received an injection of 35S-methionine into the ventral horn of the s...

journal_title：Annals of neurology

authors： Nagata H,Brimijoin S

更新日期：1986-05-01 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：:Visual (VEP), brainstem auditory (BAEP), and somatosensory (SEP) evoked potential tests were performed in 45 patients representing ten types of inherited disorders in which ataxia was the most prominent symptom. Comparable VEP abnormalities were present among all types of patients. Normal BAEP tests were recorded in m...

journal_title：Annals of neurology

authors： Nuwer MR,Perlman SL,Packwood JW,Kark RA

更新日期：1983-01-01 00:00:00

abstract：:Extramedullary hematopoiesis (EMH) in the spinal epidural space is a rare but treatable cause of progressive paraparesis in patients with a variety of hematological and systemic disorders. We report a case of extensive thoracic epidural EMH causing progressive spastic paraparesis in a patient with agnogenic myeloid me...

journal_title：Annals of neurology

authors： Stahl SM,Ellinger G,Baringer JR

更新日期：1979-05-01 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：:To clarify the influence of gastric emptying on levodopa-related motor fluctuations in Parkinson's disease, we assessed mobility and plasma levodopa concentrations in 10 patients during five modes of levodopa administration: (1) standard intermittent oral (SIO), (2) intermittent duodenal (ID), (3) continuous duodenal ...

journal_title：Annals of neurology

authors： Kurlan R,Nutt JG,Woodward WR,Rothfield K,Lichter D,Miller C,Carter JH,Shoulson I

更新日期：1988-06-01 00:00:00

abstract：:The prevalence of migraine is much greater in female than male individuals. Cortical spreading depression (CSD) is thought to be a fundamental mechanism of migraine, and CSD in rodents is used as a model for migraine. We used optical intrinsic signal imaging and electrophysiological techniques to investigate CSD in C5...

journal_title：Annals of neurology

authors： Brennan KC,Romero Reyes M,López Valdés HE,Arnold AP,Charles AC

更新日期：2007-06-01 00:00:00

abstract：:Autosomal dominant spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of neurodegenerative disorders. Recently, mild CAG repeat expansion in the alpha1A voltage-dependent calcium channel gene has been found to be associated with a type of autosomal dominant SCA (SCA6). We analyzed 98 J...

journal_title：Annals of neurology

authors： Ikeuchi T,Takano H,Koide R,Horikawa Y,Honma Y,Onishi Y,Igarashi S,Tanaka H,Nakao N,Sahashi K,Tsukagoshi H,Inoue K,Takahashi H,Tsuji S

更新日期：1997-12-01 00:00:00

abstract：:Pain and other phantom limb (PL) sensations have been proposed to be generated in the brain and to be reflected in activation of specific neural circuits. To test this hypothesis, hypnosis was used as a cognitive tool to alternate between the sensation of PL movement and pain in 8 amputees. Brain activity was measured...

journal_title：Annals of neurology

authors： Willoch F,Rosen G,Tölle TR,Oye I,Wester HJ,Berner N,Schwaiger M,Bartenstein P

更新日期：2000-12-01 00:00:00

abstract：OBJECTIVE:The dose-response effects of dysferlin transgenesis were analyzed to determine if the dysferlin-deficient myopathies are good candidates for gene replacement therapy. METHODS:We have generated 3 lines of transgenic mice, expressing low, mid, and high levels of full-length human dysferlin from a muscle-specif...

journal_title：Annals of neurology

authors： Glover LE,Newton K,Krishnan G,Bronson R,Boyle A,Krivickas LS,Brown RH Jr

更新日期：2010-03-01 00:00:00

abstract：:We report a neurological disease among Cree Indian children in a northern Quebec village. The disease manifests as severe mental retardation, cerebral atrophy with white matter changes and calcifications, and systemic immunological abnormalities. Eleven cases are known in five families. The familial incidence of cases...

journal_title：Annals of neurology

authors： Black DN,Watters GV,Andermann E,Dumont C,Kabay ME,Kaplan P,Meagher-Villemure K,Michaud J,O'Gorman G,Reece E

更新日期：1988-10-01 00:00:00

abstract：:Intracranial abscesses are uncommon in the newborn. Observation of 2 infants and a review of the literature reveal that the offending organism was a Citrobacter in 12 of the 16 documented cases. In the Neonatal Meningitis Cooperative Study this organism was responsible for meningitis in only 4%. However, an analysis o...

journal_title：Annals of neurology

authors： Curless RG

更新日期：1980-09-01 00:00:00

abstract：OBJECTIVE:Cerebellar dysfunction in multiple sclerosis (MS) contributes significantly to disability, is relatively refractory to symptomatic therapy, and often progresses despite treatment with disease-modifying agents. We previously observed that sodium channel Nav1.8, whose expression is normally restricted to the pe...

journal_title：Annals of neurology

authors： Shields SD,Cheng X,Gasser A,Saab CY,Tyrrell L,Eastman EM,Iwata M,Zwinger PJ,Black JA,Dib-Hajj SD,Waxman SG

更新日期：2012-02-01 00:00:00