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文章名     作者     期刊名     摘要     卷     期         如果没有找到您所需要的文献，请点击 ——此处申请     共11条记录   Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF [作者：Ho, YY; Ionita-Laza, I; Ottman, R,期刊：Neurology, 页码：563-568 , 文章类型： Article，,卷期：2012年78-8] Objective: In families with autosomal dominant partial epilepsy with auditory features (ADPEAF) with mutations in the LGI1 gene, we evaluated clustering of mutations within the gene and associations of penetrance and phe... Residency Training: Developing a program of quality and safety to train resident neurologists for the future [作者：Josephson, SA; Engstrom, JW,期刊：Neurology, 页码：602-605 , 文章类型： Article，,卷期：2012年78-8] Attention to quality and safety metrics is increasingly important for all physicians in practice due to mandates by governmental organizations, insurers, the public, and accreditation bodies. Neurology resident trainees ... A randomized trial of varenicline (Chantix) for the treatment of spinocerebellar ataxia type 3 [作者：Zesiewicz, TA; Greenstein, PE; Sullivan, KL; Wecker, L; Miller, A; Jahan, I; Chen, R; Perlman, SL,期刊：Neurology, 页码：545-550 , 文章类型： Article，,卷期：2012年78-8] Objective: The objective of this double-blind, placebo-controlled, randomized study was to evaluate the efficacy of varenicline (Chantix), a partial agonist at alpha 4 beta 2 neuronal nicotinic acetylcholine receptors us... Everolimus alters white matter diffusion in tuberous sclerosis complex [作者：Tillema, JM; Leach, JL; Krueger, DA; Franz, DN,期刊：Neurology, 页码：526-531 , 文章类型： Article，,卷期：2012年78-8] Objective: Diffusion tensor imaging (DTI) analysis was performed on patients with tuberous sclerosis complex (TSC) to investigate potential changes in normal-appearing white matter after treatment with everolimus, a mamm... Evidence-based guideline update: Intraoperative spinal monitoring with somatosensory and transcranial electrical motor evoked potentials Report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology and the American Clinical Neurophysiology Society [作者：Nuwer, MR; Emerson, RG; Galloway, G; Legatt, AD; Lopez, J; Minahan, R; Yamada, T; Goodin, DS; Armon, C; Chaudhry, V; Gronseth, GS; Harden, CL,期刊：Neurology, 页码：585-589 , 文章类型： Article，,卷期：2012年78-8] Objective: To evaluate whether spinal cord intraoperative monitoring (IOM) with somatosensory and transcranial electrical motor evoked potentials (EPs) predicts adverse surgical outcomes. Methods: A panel of experts revi... Solitary sclerosis Progressive myelopathy from solitary demyelinating lesion [作者：Schmalstieg, WF; Keegan, BM; Weinshenker, BG,期刊：Neurology, 页码：540-544 , 文章类型： Article，,卷期：2012年78-8] Objective: To present a case series of patients with progressive myelopathy in the setting of a solitary demyelinating lesion. Methods: We describe 7 patients evaluated over a 6-year period. All had progressive motor imp... Antigen microarrays identify CNS-produced autoantibodies in RRMS [作者：Quintana, FJ; Farez, MF; Izquierdo, G; Lucas, M; Cohen, IR; Weiner, HL,期刊：Neurology, 页码：532-539 , 文章类型： Article，,卷期：2012年78-8] Objective: Multiple sclerosis (MS) is characterized by the local production of antibodies in the CNS and the presence of oligoclonal bands in the CSF. Antigen arrays allow the study of antibody reactivity against a large... Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domain [作者：Fraidakis, MJ; Drunat, S; Maisonobe, T; Gerard, B; Pradat, PF; Meininger, V; Salachas, F,期刊：Neurology, 页码：551-556 , 文章类型： Article，,卷期：2012年78-8] Objective: We report the cases of 2 patients with late-onset spinal muscular atrophy (SMA) type III, who were hemizygous for SMN1 deletion and carriers of novel SMN1 intragenic missense mutations, and we investigate the ... GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy [作者：Striano, P; Weber, YG; Toliat, MR; Schubert, J; Leu, C; Chaimana, R; Baulac, S; Guerrero, R; LeGuern, E; Lehesjoki, AE; Polvi, A; Robbiano, A; Serratosa, JM; Guerrini, R; Nurnberg, P; Sander, T; Zara, F; Lerche, H; Marini, C,期刊：Neurology, 页码：557-562 , 文章类型： Article，,卷期：2012年78-8] Objective: The idiopathic generalized epilepsies (IGE) are the most common genetically determined epilepsies. However, the underlying genes are largely unknown. We screened the SLC2A1 gene, encoding the glucose transport... Chitinase enzyme activity in CSF is a powerful biomarker of Alzheimer disease [作者：Watabe-Rudolph, M; Song, Z; Lausser, L; Schnack, C; Begus-Nahrmann, Y; Scheithauer, MO; Rettinger, G; Otto, M; Tumani, H; Thal, DR; Attems, J; Jellinger, KA; Kestler, HA; von Arnim, CAF; Rudolph, KL,期刊：Neurology, 页码：569-577 , 文章类型： Article，,卷期：2012年78-8] Objective: DNA damage accumulation in brain is associated with the development of Alzheimer disease (AD), but newly identified protein markers of DNA damage have not been evaluated in the diagnosis of AD and other forms ... Discussions about treatment restrictions in chronic neurologic diseases A structured review [作者：Seeber, AA; Hijdra, A; Vermeulen, M; Willems, DL,期刊：Neurology, 页码：590-597 , 文章类型： Review，,卷期：2012年78-8] Objective: Many incurable neurologic diseases have predictable complications during their course or at their end stage. Timely discussions of potential treatment restrictions may improve the quality of treatment decision...