Postmortem observations on beta-glucuronidase deficiency presenting as hydrops fetalis.

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：:Analysis of the pathophysiology of hypokalemic paralysis, as it occurs in barium poisoning, chronic potassium deficiency, and thyrotoxicosis, suggests that these disorders may have a similar mechanism. An increased ratio of muscle sodium permeability to potassium permeability reduces the ionic diffusion potential, whi...

journal_title：Annals of neurology

authors： Layzer RB

更新日期：1982-06-01 00:00:00

abstract：:To determine the influence of chronic ethanol intake on the central nervous system, we studied 40 asymptomatic, well-nourished, chronic alcoholics (mean age, 42.6 +/- 9.1 years) and 20 age-, sex-, and education-matched control subjects. Studies included neuropsychological testing, visual and short-latency auditory evo...

journal_title：Annals of neurology

authors： Nicolás JM,Estruch R,Salamero M,Orteu N,Fernandez-Solà J,Sacanella E,Urbano-Márquez A

更新日期：1997-05-01 00:00:00

abstract：:Because of the association of D-penicillamine (DP) therapy with myasthenia gravis, we have studied long-term DP treatment in five inbred strains of mice with doses comparable to those used in patients with rheumatoid arthritis. No clinical weakness or anti-acetylcholine receptor (AChR) antibody developed with up to 6 ...

journal_title：Annals of neurology

authors： Bever CT Jr,Dretchen KL,Blake GJ,Chang HW,Penn AS,Asofsky R

更新日期：1984-07-01 00:00:00

abstract：:An inverse relationship between the cerebrospinal fluid (CSF) opening pressure and the corresponding protein value was found for patients with idiopathic pseudotumor cerebri who underwent their first lumbar puncture (LP) prior to the initiation of therapy. This relationship provides evidence for a pressure-dependent b...

journal_title：Annals of neurology

authors： Chandra V,Bellur SN,Anderson RJ

更新日期：1986-01-01 00:00:00

abstract：:We describe a method of cortical stimulation for localizing functional areas of brain before operation for primary brain tumors that was carried out in 14 patients. The method is unique in that the stimulation is done over several days using chronically indwelling subdural electrode arrays. In addition to cortical sti...

journal_title：Annals of neurology

authors： Morris HH 3rd,Lüders H,Hahn JF,Lesser RP,Dinner DS,Estes ML

更新日期：1986-06-01 00:00:00

abstract：:We describe a young child with tuberous sclerosis and cardiac rhabdomyoma who developed reversible heart block after being placed on carbamazepine treatment for seizures. Patients of any age with known or suspected intrinsic cardiac disease should be monitored for conduction disturbance if they are treated with carbam...

journal_title：Annals of neurology

authors： Weig SG,Pollack P

更新日期：1993-10-01 00:00:00

abstract：OBJECTIVE:Abnormal cortical excitability is evident in various movement disorders that compromise fine motor control. Here we tested whether skilled finger movements can be restored in musicians with focal hand dystonia through behavioral training assisted by transcranial direct current stimulation to the motor cortex ...

journal_title：Annals of neurology

authors： Furuya S,Nitsche MA,Paulus W,Altenmüller E

更新日期：2014-05-01 00:00:00

abstract：:Neurofilaments, assembled from NF-L (68 kd), NF-M (95 kd), and NF-H (115 kd), are the most abundant structural components in large myelinated axons, particularly those of motor neurons. Aberrant neurofilament accumulation in cell bodies and axons of motor neurons is a prominent pathological feature of several motor ne...

journal_title：Annals of neurology

authors： Vechio JD,Bruijn LI,Xu Z,Brown RH Jr,Cleveland DW

更新日期：1996-10-01 00:00:00

abstract：:A 51-year-old man presented with a six-year history of gradually progressive exertional dyspnea. His complaint was attributed to increasing age, but evaluation finally led to a diagnosis of diaphragmatic paralysis. Neurological examination disclosed only minimal evidence of weakness of limb muscles. Electromyographic ...

journal_title：Annals of neurology

authors： Sivak ED,Salanga VD,Wilbourn AJ,Mitsumoto H,Golish J

更新日期：1981-06-01 00:00:00

abstract：OBJECTIVE:Fast oscillations (FOs) were first explored from scalp electroencephalographic (EEG) data from hypsarrhythmia in West syndrome (infantile spasms) to investigate the meaning of FOs in this epileptic encephalopathy. METHODS:In 17 infants with West syndrome, we conservatively detected fast frequency peaks that ...

journal_title：Annals of neurology

authors： Kobayashi K,Akiyama T,Oka M,Endoh F,Yoshinaga H

更新日期：2015-01-01 00:00:00

abstract：:A human immunodeficiency virus (HIV-I) was isolated from the brain of a patient with progressive dementia but no obvious immunosuppression. This isolate, designated as HIV-IBR, was molecularly cloned and sequenced, and its long terminal repeat (LTR) and envelope sequences were compared with those of other HIV isolates...

journal_title：Annals of neurology

authors： Anand R,Srinivasan A,Gardner MB,Luciw PA,Dandekar S

更新日期：1988-01-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a motor neuron disease caused by dysfunction of the survival motor neuron (SMN) gene. Human SMN gene is present in duplicated copies: SMN1 and SMN2. More than 95% of patients with SMA lack a functional SMN1 but retain at least one copy of SMN2. Unlike SMN1, SMN2 is primarily transcribe...

journal_title：Annals of neurology

authors： Grzeschik SM,Ganta M,Prior TW,Heavlin WD,Wang CH

更新日期：2005-08-01 00:00:00

abstract：:Regional cerebral blood flow (rCBF) was measured in human subjects during saccadic eye movements by a 254-channel dynamic gamma camera. Focal rCBF increases were repeatedly observed in an area within the middle precentral and premotor regions which corresponds to the frontal eye field in humans. Our findings suggest t...

journal_title：Annals of neurology

authors： Melamed E,Larsen B

更新日期：1979-01-01 00:00:00

abstract：:This study assessed whether or not levodopa induces dyskinesias in normal (ie, unlesioned) squirrel monkeys. All six animals treated twice daily with levodopa (15 mg/kg with carbidopa by oral gavage) for two weeks developed choreoathetoid dyskinesias, whereas none of the vehicle-treated animals displayed any abnormal ...

journal_title：Annals of neurology

authors： Togasaki DM,Tan L,Protell P,Di Monte DA,Quik M,Langston JW

更新日期：2001-08-01 00:00:00

abstract：:We report increased modification of proteins by 4-hydroxynonenal (HNE), a product of membrane lipid peroxidation, in the lumbar spinal cord of sporadic amyotrophic lateral sclerosis (ALS) patients versus that of neurologically normal controls. By immunohistochemistry, HNE-protein modification was detected in ventral h...

journal_title：Annals of neurology

authors： Pedersen WA,Fu W,Keller JN,Markesbery WR,Appel S,Smith RG,Kasarskis E,Mattson MP

更新日期：1998-11-01 00:00:00

abstract：:A young woman with Kearns-Sayre syndrome and progressive central nervous system deterioration over 15 years had decreased plasma and cerebrospinal fluid folate levels while receiving phenytoin for a seizure disorder. A muscle biopsy showed a "ragged red fiber" myopathy with reduced muscle carnitine and mitochondrial e...

journal_title：Annals of neurology

authors： Allen RJ,DiMauro S,Coulter DL,Papadimitriou A,Rothenberg SP

更新日期：1983-06-01 00:00:00

abstract：:Charcot-Marie-Tooth (CMT) neuropathies are inherited neuromuscular disorders caused by a length-dependent neurodegeneration of peripheral nerves. More than 900 mutations in 60 different genes are causative of the neuropathy. Despite significant progress in therapeutic strategies, the disease remains incurable. The inc...

journal_title：Annals of neurology

authors： Bouhy D,Timmerman V

更新日期：2013-09-01 00:00:00

abstract：:Ten laminin alpha2-deficient patients were identified by both immunofluorescence and immunoblotting (30% of congenital muscular dystrophy patients tested). Three of the laminin alpha2-deficient patients were carrying a diagnosis of infantile polymyositis prior to immunostaining studies. The clinical features in the 10...

journal_title：Annals of neurology

authors： Pegoraro E,Mancias P,Swerdlow SH,Raikow RB,Garcia C,Marks H,Crawford T,Carver V,Di Cianno B,Hoffman EP

更新日期：1996-11-01 00:00:00

abstract：:To determine whether the association of the very low density lipoprotein receptor (VLDL-R) gene with Alzheimer's disease (AD), which has recently been identified in Japanese AD patients, is commonly observed in AD patients of other ethnic backgrounds, we have investigated the allele frequency of the polymorphic CGG re...

journal_title：Annals of neurology

authors： Okuizumi K,Onodera O,Seki K,Tanaka H,Namba Y,Ikeda K,Saunders AM,Pericak-Vance MA,Roses AD,Tsuji S

更新日期：1996-08-01 00:00:00

abstract：OBJECTIVE:Acquired epilepsy is a devastating long-term risk of various brain insults, including trauma, stroke, infections, and status epilepticus (SE). There is no preventive treatment for patients at risk. Attributable to the complex alterations involved in epileptogenesis, it is likely that multitargeted approaches ...

journal_title：Annals of neurology

authors： Bar-Klein G,Klee R,Brandt C,Bankstahl M,Bascuñana P,Töllner K,Dalipaj H,Bankstahl JP,Friedman A,Löscher W

更新日期：2016-12-01 00:00:00

abstract：:The pontine tegmentum contains the neurons responsible for generation of saccadic eye movements and certain phases of sleep. We studied two genetically unrelated patients with spinocerebellar degeneration and slow saccadic eye movements. Multiple all-night sleep studies in both patients disclosed absence of REM and st...

journal_title：Annals of neurology

authors： Osorio I,Daroff RB

更新日期：1980-03-01 00:00:00

abstract：OBJECTIVE:To assess risk factors associated with care for stroke symptoms. METHODS:Using data from the population-based national cohort study (REasons for Geographic And Racial Differences in Stroke) conducted January 25, 2003-February 28, 2007 (N = 23,664), we assessed care-seeking behavior among 3,668 participants w...

journal_title：Annals of neurology

authors： Howard VJ,Lackland DT,Lichtman JH,McClure LA,Howard G,Wagner L,Pulley L,Gomez CR

更新日期：2008-04-01 00:00:00

abstract：:Selective neuronal vulnerability is a key feature of the neuropathology of Huntington's disease. We used [3H]CP-55,940, a synthetic cannabinoid, to label cannabinoid receptors in tissue sections from individuals dying with Huntington's disease and from normal control subjects. The density of cannabinoid receptors in s...

journal_title：Annals of neurology

authors： Richfield EK,Herkenham M

更新日期：1994-10-01 00:00:00

abstract：:The authors report on a series of spontaneous intracranial hemorrhages associated with vein of Galen aneurysmal malformations (VGAMs). Thirty-four children with VGAMs have been treated at this institution since 1986. Eight children (24%) harbored the mural-type malformation, and 26 (76%) had the choroidal-type lesion....

journal_title：Annals of neurology

authors： Meyers PM,Halbach VV,Phatouros CP,Dowd CF,Malek AM,Lempert TE,Lefler JE,Higashida RT

更新日期：2000-06-01 00:00:00

abstract：:Because the symptomatic treatments for multiple sclerosis (MS) are limited, new approaches have been sought. Anatomical studies of MS lesions show a relative preservation of axons, and clinical studies suggest that some of the neurological impairment in patients with MS is physiological. Electrophysiological studies s...

journal_title：Annals of neurology

authors： Bever CT Jr

更新日期：1994-01-01 00:00:00

abstract：OBJECTIVE:Loss of cerebral autoregulation (CA) plays a key role in secondary neurologic injury. However, the regional distribution of CA impairment after acute cerebral injury remains unclear because, in clinical practice, CA is only assessed within a limited compartment. Here, we performed large-scale regional mapping...

journal_title：Annals of neurology

authors： Hecht N,Schrammel M,Neumann K,Müller MM,Dreier JP,Vajkoczy P,Woitzik J

更新日期：2021-02-01 00:00:00

abstract：OBJECTIVE:We examined the association of nutrient intake with microstructural white matter integrity, and the role of white matter integrity in the association between nutrient consumption and cognition. METHODS:This cross-sectional analysis included 239 elderly (age ≥ 65 years) participants of a multiethnic cohort. W...

journal_title：Annals of neurology

authors： Gu Y,Vorburger RS,Gazes Y,Habeck CG,Stern Y,Luchsinger JA,Manly JJ,Schupf N,Mayeux R,Brickman AM

更新日期：2016-06-01 00:00:00

abstract：OBJECTIVE:Chorioamnionitis is associated with increased risk for cerebral palsy (CP) in term infants. A functional polymorphism in the interleukin-6 (IL-6) gene has been implicated in newborn brain injury. We studied whether the IL-6 -174 G/C polymorphism confers increased risk for CP in term infants. METHODS:This pop...

journal_title：Annals of neurology

authors： Wu YW,Croen LA,Torres AR,Van De Water J,Grether JK,Hsu NN

更新日期：2009-11-01 00:00:00

abstract：OBJECTIVE:Osteopontin (OPN), a pleiotropic extracellular matrix glycoprotein, has been reported to be protective against ischemic lesions, but effects of OPN on vascular functions have not been investigated. The aim of this study was to assess whether recombinant OPN (r-OPN) could prevent cerebral vasospasm after subar...

journal_title：Annals of neurology

authors： Suzuki H,Hasegawa Y,Chen W,Kanamaru K,Zhang JH

更新日期：2010-11-01 00:00:00