- Diagnosis of glycogenosis type II
[作者:Bembi, B; Cerini, E; Danesino, C; Donati, MA; Gasperini, S; Morandi, L; Musumeci, O; Parenti, G; Ravaglia, S; Seidita, F; Toscano, A; Vianello, A,期刊:Neurology, 页码:S4-S11 , 文章类型: Article,,卷期:2008年71-23]
- The diagnosis of glycogenosis type II is often complicated by the rarity of the condition and the heterogeneity of the clinical manifestations of the disease. It is a progressive, debilitating, and often fatal neuromuscu...
- Management and treatment of glycogenosis type II
[作者:Bembi, B; Cerini, E; Danesino, C; Donati, MA; Gasperini, S; Morandi, L; Musumeci, O; Parenti, G; Ravaglia, S; Seidita, F; Toscano, A; Vianello, A,期刊:Neurology, 页码:S12-S36 , 文章类型: Article,,卷期:2008年71-23]
- Glycogenosis type II is a multisystem disorder that requires management by a multidisciplinary team. The team should include several specialists, such as a metabolic disease specialist or biochemical geneticist, cardiolo...
- Increasing incidence of ALS in Canterbury, New Zealand A 22-year study
[作者:Murphy, M; Quinn, S; Young, J; Parkin, P; Taylor, B,期刊:Neurology, 页码:1889-1895 , 文章类型: Article,,卷期:2008年71-23]
- Objective: We performed a prospective study of amyotrophic lateral sclerosis (ALS) in North Canterbury, New Zealand, from 1985 to 2006, to ascertain the incidence of ALS over that 22-year period, and to detect patterns o...
- New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations
[作者:Ohlsson, M; Quijano-Roy, S; Darin, N; Brochier, G; Lacene, E; Avila-Smirnow, D; Fardeau, M; Oldfors, A; Tajsharghi, H,期刊:Neurology, 页码:1896-1901 , 文章类型: Article,,卷期:2008年71-23]
- Objective: Mutations in the beta-tropomyosin gene (TPM2) are a rare cause of congenital myopathies with features of nemaline myopathy and cap disease and may also cause distal arthrogryposis syndromes without major muscl...
- Orthostatic headache without CSF leak
[作者:Leep, AN; Hunderfund; Mokri, B,期刊:Neurology, 页码:1902-1906 , 文章类型: Article,,卷期:2008年71-23]
- Objective: To describe the syndrome of orthostatic headache without CSF leak and propose potential mechanisms.Methods: From among 125 patients referred to one of us (B. M.) over a 5-year period for evaluation of orthosta...
- High plasma glutamate concentrations are associated with infarct growth in acute ischemic stroke
[作者:Castellanos, M; Sobrino, T; Pedraza, S; Moldes, O; Pumar, JM; Silva, Y; Serena, J; Garcia-Gil, M; Castillo, J; Davalos, A,期刊:Neurology, 页码:1862-1868 , 文章类型: Article,,卷期:2008年71-23]
- Background: Excitotoxic and inflammatory mechanisms have been demonstrated as mediating early neurologic deterioration (END) in patients with cerebral infarction. Here we investigate whether molecular markers associated ...
- Invited Article: The US health care system Part 1: Our current system
[作者:Nuwer, MR; Esper, GJ; Donofrio, PD; Szaflarski, JP; Barkley, GL; Swift, TR,期刊:Neurology, 页码:1907-1913 , 文章类型: Article,,卷期:2008年71-23]
- The US health care crisis is of great concern to American neurologists. The United States has the world's most expensive health care system yet one-sixth of Americans are uninsured. The cost and volume of procedures is e...
- Invited Article: The US health care system Part 2: Proposals for improvement and comparison to other systems
[作者:Nuwer, MR; Barkley, GL; Esper, GJ; Donofrio, PD; Szaflarski, JP; Swift, TR,期刊:Neurology, 页码:1914-1920 , 文章类型: Article,,卷期:2008年71-23]
- In the search for a universal, high quality, affordable health care system, Americans seek to identify and correct a series of current problems. In part one of this two-part series, we presented problems along with some ...
- Diffusion tensor imaging correlates of memory and language impairments in temporal lobe epilepsy
[作者:McDonald, CR; Ahmadi, ME; Hagler, DJ; Tecoma, ES; Iragui, VJ; Gharapetian, L; Dale, AM; Halgren, E,期刊:Neurology, 页码:1869-1876 , 文章类型: Article,,卷期:2008年71-23]
- Objective: To investigate the relationship between white matter tract integrity and language and memory performances in patients with temporal lobe epilepsy (TLE).Methods: Diffusion tensor imaging (DTI) was performed in ...
- Is olfactory impairment in Parkinson disease related to phenotypic or genotypic characteristics?
[作者:Verbaan, D; Boesveldt, S; Van Rooden, SM; Visser, M; Marinus, J; Macedo, MG; Fang, Y; Heutink, P; Berendse, HW; van Hilten, JJ,期刊:Neurology, 页码:1877-1882 , 文章类型: Article,,卷期:2008年71-23]
- Objective: To evaluate the relation between olfactory impairment (OI) and other impairment domains in Parkinson disease (PD) and the characteristics of OI in patients with certain genotypic characteristics.Methods: In 29...
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