- Limbic encephalitis as a precipitating event in adult-onset temporal lobe epilepsy
[作者：Bien, CG; Urbach, H; Schramm, J; Soeder, BM; Becker, AJ; Voltz, R; Vincent, A; Elger, CE,期刊：Neurology, 页码：1236-1244 , 文章类型： Article，,卷期：2007年69-12]
- Objective: Temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) is the most frequent diagnosis in autopsy and surgical epilepsy series. TLE-HS usually starts during childhood or adolescence. There have been few stu...
- Prominent brain axonal damage and functional reorganization in "pure" adrenomyeloneuropathy
[作者：Marino, S; Luca, M; Dotti, MT; Stromillo, ML; Formichi, P; Galluzzi, P; Mondelli, M; Brarnanti, P; Federico, A; De Stefano, N,期刊：Neurology, 页码：1261-1269 , 文章类型： Article，,卷期：2007年69-12]
- Background: Cerebral involvement is usually absent in pure adrenomyeloneuropathy (AMN). Recently, nonconventional MR studies have reported brain abnormalities in patients with pure AMN, providing evidence that occult cer...
- Thalamic atrophy and cognition in multiple sclerosis
[作者：Houtchens, MK; Benedict, RHB; Killiany, R; Sharina, J; Jaisani, Z; Singh, B; Weinstock-Guttmann, B; Guttmann, CRG; Bakshi, R,期刊：Neurology, 页码：1213-1223 , 文章类型： Article，,卷期：2007年69-12]
- Objectives: Recent studies have indicated that brain atrophy is more closely associated with cognitive impairment in multiple sclerosis (MS) than are conventional MRI lesion measures. Enlargement of the third ventricle s...
- Clinical characterization of the HOXA1 syndrome BSAS variant
[作者：Bosley, TM; Salih, MA; Alorainy, I; Oystreck, D; Nester, M; Abu-Amero, KK; Tischfield, MA; Engle, EC,期刊：Neurology, 页码：1245-1253 , 文章类型： Article，,卷期：2007年69-12]
- Background: The Bosley-Salih-Alorainy syndrome (BSAS) variant of the congenital human HOXA1 syndrome results from autosomal recessive truncating HOXA1 mutations. We describe the currently recognized spectrum of ocular mo...
- Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease
[作者：Clark, LN; Ross, BM; Wang, Y; Mejia-Santana, H; Harris, J; Louis, ED; Cote, LJ; Andrews, H; Fahn, S; Waters, C; Ford, B; Frucht, S; Ottman, R; Marder, K,期刊：Neurology, 页码：1270-1277 , 文章类型： Article，,卷期：2007年69-12]
- Objective: To evaluate the frequency of glucocerebrosidase (GBA) mutations in cases and controls enrolled in the Genetic Epidemiology of Parkinson's Disease (GEPD) study.Methods: We sequenced all exons of the GBA gene in...
- Parental transmission of MS in a population-based Canadian cohort
[作者：Herrera, BM; Rarnagopalan, SV; Orton, S; Chao, M; Yee, IM; Sadovnick, AD; Ebers, GC,期刊：Neurology, 页码：1208-1212 , 文章类型： Article，,卷期：2007年69-12]
- Objective: Genetic and environmental factors have important roles in multiple sclerosis (MS) susceplilility, The precise nature of these factors and mole of inheritance remains unknown, A female predominance is universal...
- Incidence and prevalence of multiple sclerosis in Saskatoon, Saskatchewan
[作者：Hader, WJ; Yee, IML,期刊：Neurology, 页码：1224-1229 , 文章类型： Article，,卷期：2007年69-12]
- Objective: To determine the incidence of multiple sclerosis (MS) in a longitudinal surveillance over 35 years and to estimate the prevalence rate in Saskatoon, Saskatchewan, on January 1, 2005.Methods: A population-based...
- New POMT2 mutations causing congenital muscular dystrophy: Identification of a founder mutation
[作者：Yanagisawa, A; Boucher, C; Van den Bergh, PYK; Cuisset, JM; Viollet, L; Leturcq, F; Romero, NB; Quijano-Roy, S; Fardeau, M; Sera, N; Guicheney, P,期刊：Neurology, 页码：1254-1260 , 文章类型： Article，,卷期：2007年69-12]
- Background: Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) with autosomal recessive inheritance, often associated with CNS and ocular involvement. They are characterized by the abnormal glycos...
- San-Francisco/Oakland Bay Bridge welder study
[作者：Antunes, MB; Bowler, R; Doty, RL,期刊：Neurology, 页码：1278-1284 , 文章类型： Article，,卷期：2007年69-12]
- Background: The sense of smell can be damaged by airborne xenobiotics, including aerosolized heavy metals, reflecting the direct exposure of its receptors to the outside environment.Objectives: To determine whether profe...
- Phenotypic clustering of lamin A/C mutations in neuromuscular patients
[作者：Benedetti, S; Menditto, I; Degano, M; Rodolico, C; Merlini, L; D'Amico, A; Palmucci, L; Berardinelli, A; Pegoraro, E; Trevisan, CP; Morandi, L; Moroni, I; Galluzzi, G; Bertini, E; Toscano, A; Olive, M; Bonne, G; Mari, F; Caldara, R; Fazio, R; Mammii, I; Carrera, P; Toniolo, D; Comi, G; Quattrini, A; Ferrari, M; Previtali, SC,期刊：Neurology, 页码：1285-1292 , 文章类型： Review，,卷期：2007年69-12]
- Background: Mutations in the LMNA gene, encoding human lamin A/C, have been associated with an increasing number of disorders often involving skeletal and cardiac muscle, but no clear genotype/phenotype correlation could...
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