Accelerating progress in induced pluripotent stem cell research for neurological diseases.

abstract：:The unloading reflex was measured in the intrinsic muscles of the hand. By removing various fractions of the load on the muscles, we determined the size of the electromyographic response as a function of the change in the external force. This technique was applied to both hands of a patient with a pontine lesion who h...

journal_title：Annals of neurology

authors： Angel RW,Goldstein M

更新日期：1983-03-01 00:00:00

abstract：:The cervical nerves may play a significant role in primary headache disorders. We reviewed the patterns of pain evoked by stimulation of the first 3 cervical nerves (C1-C3) in 10 patients with chronic occipital pain, 6 of whom also had migraine. Stimulation at the C1 level evoked periorbital and frontal pain in 6 of 6...

journal_title：Annals of neurology

authors： Johnston MM,Jordan SE,Charles AC

更新日期：2013-07-01 00:00:00

abstract：:A 56-year-old man was seen with subacute cerebellar degeneration and was found to have oat cell carcinoma of the lung. Antibodies to cerebellar Purkinje cells and granule cells were detected in both serum and cerebrospinal fluid (CSF), and intrathecal antibody synthesis was suggested by serum CSF antibody ratios, CSF ...

journal_title：Annals of neurology

authors： Greenlee JE,Lipton HL

更新日期：1986-01-01 00:00:00

abstract：:There has been little exploration of major biologic regulators of cerebral development in autism. In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffini...

journal_title：Annals of neurology

authors： Nelson KB,Grether JK,Croen LA,Dambrosia JM,Dickens BF,Jelliffe LL,Hansen RL,Phillips TM

更新日期：2001-05-01 00:00:00

abstract：:We demonstrated that an IgM M-protein from a patient with motor neuron syndrome had antibody activity against gangliosides GM1, GD1b, and asialo GM1. Studies with a sugar-binding lectin suggested that the epitope in the patient's M-IgM involved the Gal(beta 1-3) GalNAc moiety. Immunohistological techniques demonstrate...

journal_title：Annals of neurology

authors： Nardelli E,Steck AJ,Barkas T,Schluep M,Jerusalem F

更新日期：1988-05-01 00:00:00

abstract：OBJECTIVE:Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly as a myopathy usually beginning in childhood and progressing relentlessly. We investigated the safet...

journal_title：Annals of neurology

authors： Domínguez-González C,Madruga-Garrido M,Mavillard F,Garone C,Aguirre-Rodríguez FJ,Donati MA,Kleinsteuber K,Martí I,Martín-Hernández E,Morealejo-Aycinena JP,Munell F,Nascimento A,Kalko SG,Sardina MD,Álvarez Del Vayo C,Serrano

更新日期：2019-08-01 00:00:00

abstract：:Mitochondrial iron accumulation is thought to underlie the pathophysiology of Friedreich ataxia and may occur at the expense of cytosolic iron. Decreases in cytosolic iron induce expression of the transferrin receptor, some of which is released into the serum. Here, we demonstrate that serum transferrin receptor conce...

journal_title：Annals of neurology

authors： Wilson RB,Lynch DR,Farmer JM,Brooks DG,Fischbeck KH

更新日期：2000-05-01 00:00:00

abstract：:Nineteen diabetic patients, 12 type I (insulin-dependent) and 7 type II (late-onset, non-insulin-dependent), underwent nocturnal polygraphic monitoring after a daytime medical evaluation that included tests of vagal responses and, in 6 patients, pulmonary function and hypercapnic and hypoxic responses. Five lean type ...

journal_title：Annals of neurology

authors： Mondini S,Guilleminault C

更新日期：1985-04-01 00:00:00

abstract：OBJECTIVE:To explore the prognostic implications of epilepsy duration and age at surgery for seizure outcomes after frontal lobe epilepsy (FLE) surgery. METHODS:We reviewed 158 patients who underwent FLE surgery from 1995 to 2010. The primary outcome was seizure freedom at last follow-up (Engel class IA). Analyses emp...

journal_title：Annals of neurology

authors： Simasathien T,Vadera S,Najm I,Gupta A,Bingaman W,Jehi L

更新日期：2013-05-01 00:00:00

abstract：:Intellectual disability is common and is associated with significant morbidity. Until the latter half of the 20th century, there were no efficacious treatments. Following initial breakthroughs associated with newborn screening and metabolic corrections, little progress was made until recently. With improved understand...

journal_title：Annals of neurology

authors： Picker JD,Walsh CA

更新日期：2013-09-01 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：:We sought to determine whether the putative pontine micturition center in the human dorsal pons contains corticotrophin-releasing factor (CRF) neurons, and whether these neurons are depleted in patients with multiple system atrophy and bladder dysfunction. Brains were obtained at autopsy from 4 control subjects and 4 ...

journal_title：Annals of neurology

authors： Benarroch EE,Schmeichel AM

更新日期：2001-11-01 00:00:00

abstract：:A 64-year-old man developed lethargy and aphasia immediately following cerebral arteriography with iothalamate meglumine. An electroencephalogram showed continuous epileptiform activity. The patient was treated with intravenous phenytoin with complete resolution of clinical symptoms and electroencephalographic epilept...

journal_title：Annals of neurology

authors： Vickrey BG,Bahls FH

更新日期：1989-02-01 00:00:00

abstract：:A patient is described who suffered a bilateral hemorrhagic infarction in the parasagittal cerebrum following neonatal asphyxia. This case confirms experimental results that show the parasagittal cerebrum is especially vulnerable to ischemic damage in newborns. ...

journal_title：Annals of neurology

authors： Pasternak JF

更新日期：1987-02-01 00:00:00

abstract：:The cerebrovascular response of newborn animals to hypotension has not been defined on a regional basis. Using an autoradiographic technique employing 14C-iodoantipyrine as indicator, we studied the cerebral physiological responses of newborn dogs to hypotension induced by exsanguination or by administration of Escher...

journal_title：Annals of neurology

authors： Young RS,Hernandez MJ,Yagel SK

更新日期：1982-11-01 00:00:00

abstract：:Using proton magnetic resonance spectroscopic imaging, we studied the cerebellum of 9 patients with cerebellar degeneration and of 9 age-matched normal control subjects. This technique permits the simultaneous measurement of N-acetylaspartate, choline-containing compounds, creatine/phosphocreatine, and lactate signal ...

journal_title：Annals of neurology

authors： Tedeschi G,Bertolino A,Massaquoi SG,Campbell G,Patronas NJ,Bonavita S,Barnett AS,Alger JR,Hallett M

更新日期：1996-01-01 00:00:00

abstract：OBJECTIVE:Cerebral aneurysms can cause substantial morbidity and mortality, specifically if they rupture, leading to nontraumatic subarachnoid hemorrhage (SAH). This meta-analysis summarizes evidence about the accuracy of noninvasive computed tomographic (CT) angiography for diagnosing intracranial aneurysms in symptom...

journal_title：Annals of neurology

authors： Menke J,Larsen J,Kallenberg K

更新日期：2011-04-01 00:00:00

abstract：OBJECTIVE:Infantile spasms are seizures associated with a severe epileptic encephalopathy presenting in the first 2 years of life, and optimal treatment continues to be debated. This study evaluates early and sustained response to initial treatments and addresses both clinical remission and electrographic resolution of...

journal_title：Annals of neurology

authors： Knupp KG,Coryell J,Nickels KC,Ryan N,Leister E,Loddenkemper T,Grinspan Z,Hartman AL,Kossoff EH,Gaillard WD,Mytinger JR,Joshi S,Shellhaas RA,Sullivan J,Dlugos D,Hamikawa L,Berg AT,Millichap J,Nordli DR Jr,Wirrell E,

更新日期：2016-03-01 00:00:00

abstract：:In this study, we preincubated the sera of 3 patients with neuropathies associated with elevated titers of IgM anti-GM1 antibodies, with increasing concentrations of intravenous Ig (IVIg) and assayed the inhibitory effect of this mixture on antibody binding to immobilized GM1 by an enzyme-linked immunosorbent assay. P...

journal_title：Annals of neurology

authors： Malik U,Oleksowicz L,Latov N,Cardo LJ

更新日期：1996-01-01 00:00:00

abstract：OBJECTIVE:Our goal was to define the genetic cause of the profound hypomyelination in the taiep rat model and determine its relevance to human white matter disease. METHODS:Based on previous localization of the taiep mutation to rat chromosome 9, we tested whether the mutation resided within the Tubb4a (β-tubulin 4A) ...

journal_title：Annals of neurology

authors： Duncan ID,Bugiani M,Radcliff AB,Moran JJ,Lopez-Anido C,Duong P,August BK,Wolf NI,van der Knaap MS,Svaren J

更新日期：2017-05-01 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：:We describe the first non-Ashkenazi patient with adult polyglucosan body disease and decreased glycogen-branching enzyme (GBE) activity in leukocytes. Gene analysis revealed compound heterozygosity for two novel missense mutations Arg515His and Arg524Gln in the GBE gene. Both missense mutations are predicted to impair...

journal_title：Annals of neurology

authors： Ziemssen F,Sindern E,Schröder JM,Shin YS,Zange J,Kilimann MW,Malin JP,Vorgerd M

更新日期：2000-04-01 00:00:00

abstract：:The mucopolysaccharidoses are caused by inherited deficiencies of lysosomal enzymes involved in the degradative pathway of glycosaminoglycans. Lysosomal storage leads to cellular and organ dysfunction, including mental retardation. Storage lesions are found throughout the diseased brain, but little is known about the ...

journal_title：Annals of neurology

authors： Heuer GG,Passini MA,Jiang K,Parente MK,Lee VM,Trojanowski JQ,Wolfe JH

更新日期：2002-12-01 00:00:00

abstract：:Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to ...

journal_title：Annals of neurology

authors： Becher MW,Kotzuk JA,Davis LE,Bear DG

更新日期：2000-11-01 00:00:00

abstract：:We compared the accuracy of saccades made to seen or remembered visual targets in 3 patients with saccadic dysmetria due to cerebellar lesions. Saccadic dysmetria was worse for saccades to remembered targets and for saccades to flashed targets visible for only 150 msec (i.e., invisible at the time of saccade). Further...

journal_title：Annals of neurology

authors： Gaymard B,Rivaud S,Amarenco P,Pierrot-Deseilligny C

更新日期：1994-01-01 00:00:00

abstract：:A patient developed conjugate horizontal eye deviation to the side opposite a large frontal-perisylvian hemorrhage from a ruptured aneurysm. Autopsy examination confirmed the hemispheric locus of the hemorrhage and failed to disclose any lesion of the brainstem or thalamus to explain the "wrong-way" eye deviation. ...

journal_title：Annals of neurology

authors： Pessin MS,Adelman LS,Prager RJ,Lathi ES,Lange DJ

更新日期：1981-01-01 00:00:00

abstract：:Advances in neuroimaging techniques, particularly high-resolution magnetic resonance imaging (MRI), have proved invaluable in identifying structural brain lesions in patients with epilepsy. The assumption that such focal lesions invariably predict the site of seizure origin may not be correct, however. We report a ser...

journal_title：Annals of neurology

authors： Holmes MD,Wilensky AJ,Ojemann GA,Ojemann LM

更新日期：1999-04-01 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：:Adult polyglucosan body disease (APBD) is a late-onset, slowly progressive disorder of the nervous system caused by glycogen branching enzyme (GBE) deficiency in a subgroup of patients of Ashkenazi Jewish origin. Similar biochemical finding is shared by glycogen storage disease type IV (GSD IV) that, in contrast to AP...

journal_title：Annals of neurology

authors： Lossos A,Meiner Z,Barash V,Soffer D,Schlesinger I,Abramsky O,Argov Z,Shpitzen S,Meiner V

更新日期：1998-12-01 00:00:00

abstract：:To investigate the potential role of drug therapy in preventing or exacerbating seizure-related brain injury in the prepubescent brain, we administered kainic acid to rats at postnatal day 35. Therapy with daily phenobarbital was started directly before or 1 day after kainic acid was administered, and was continued th...

journal_title：Annals of neurology

authors： Mikati MA,Holmes GL,Chronopoulos A,Hyde P,Thurber S,Gatt A,Liu Z,Werner S,Stafstrom CE

更新日期：1994-09-01 00:00:00