- Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction
[作者：Del Bo, R; Moggio, M; Rango, M; Bonato, S; D'Angelo, MG; Ghezzi, S; Airoldi, G; Bassi, MT; Guglieri, M; Napoli, L; Lamperti, C; Corti, S; Federico, A; Bresolin, N; Comi, GP,期刊：Neurology, 页码：1959-1966 , 文章类型： Article，,卷期：2008年71-24]
- Background: The axonal forms of Charcot-Marie-Tooth (CMT2) disease are a clinically and genetically heterogeneous group of disorders. Mitofusin 2 gene (MFN2) mutations are the most common cause of CMT2. Complex phenotype...
- The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa
[作者：Richard, P; Gaudon, K; Haddad, H; Ben Ammar, A; Genin, E; Bauche, S; Paturneau-Jouas, M; Muller, JS; Lochmueller, H; Grid, D; Hamri, A; Nouioua, S; Tazir, M; Mayer, M; Desnuelle, C; Barois, A; Chabrol, B; Pouget, J; Koenig, J; Gouider-Khouja, N; Hentati, F; Eymard, B; Hantai, D,期刊：Neurology, 页码：1967-1972 , 文章类型： Article，,卷期：2008年71-24]
- Objective: Mutations in various genes of the neuromuscular junction cause congenital myasthenic syndrome (CMS). A single truncating mutation (epsilon 1293insG) in the acetylcholine receptor epsilon subunit gene (CHRNE) w...
- Altered language processing in autosomal dominant partial epilepsy with auditory features
[作者：Ottman, R; Rosenberger, L; Bagic, A; Kamberakis, K; Ritzl, EK; Wohlschlager, AM; Shamim, S; Sato, S; Liew, C; Gaillard, WD; Wiggs, E; Berl, MM; Reeves-Tyers, P; Baker, EH; Butman, JA; Theodore, WH,期刊：Neurology, 页码：1973-1980 , 文章类型： Article，,卷期：2008年71-24]
- Background: Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an idiopathic focal epilepsy syndrome with auditory symptoms or receptive aphasia as major ictal manifestations, frequently associated wi...
- Nerve fiber impairment of anterior thalamocortical circuitry in juvenile myoclonic epilepsy
[作者：Deppe, M; Kellinghaus, C; Duning, T; Moddel, G; Mohammadi, S; Deppe, K; Schiffbauer, H; Kugel, H; Keller, SS; Ringelstein, EB; Knecht, S,期刊：Neurology, 页码：1981-1985 , 文章类型： Article，,卷期：2008年71-24]
- Background: Juvenile myoclonic epilepsy (JME) is a syndrome of idiopathic generalized epilepsy (IGE) without structural brain abnormalities detectable by MRI or CT.Objective: In the present study, we addressed the questi...
- Medial temporal lobe atrophy on MRI scans and the diagnosis of Alzheimer disease
[作者：Duara, R; Loewenstein, DA; Potter, E; Appel, J; Greig, MT; Urs, R; Shen, Q; Raj, A; Small, B; Barker, W; Schofield, E; Wu, Y; Potter, H,期刊：Neurology, 页码：1986-1992 , 文章类型： Article，,卷期：2008年71-24]
- Background: Despite convenience, accessibility, and strong correlation to severity of Alzheimer disease (AD) pathology, medial temporal lobe atrophy (MTA) has not been used as a criterion in the diagnosis of prodromal an...
- Changes in NAA and lactate following ischemic stroke A serial MR spectroscopic imaging study
[作者：Maniega, SM; Cvoro, V; Chappell, FM; Armitage, PA; Marshall, I; Bastin, ME; Wardlaw, JM,期刊：Neurology, 页码：1993-1999 , 文章类型： Article，,卷期：2008年71-24]
- Objective: Although much tissue damage may occur within the first few hours of ischemic stroke, the duration of tissue injury is not well defined. We assessed the temporal pattern of neuronal loss and ischemia after isch...
- Transcranial magnetic stimulation study of expiratory muscle weakness in acute ischemic stroke
[作者：Harraf, F; Ward, K; Man, W; Rafferty, G; Mills, K; Polkey, M; Moxham, J; Kalra, L,期刊：Neurology, 页码：2000-2007 , 文章类型： Article，,卷期：2008年71-24]
- Background: Expiratory muscle weakness due to cerebral infarction may contribute to reduced airway clearance in stroke patients.Methods: Transcranial magnetic stimulation (TMS) at the vertex and over each hemisphere and ...
- Expression and regulation of IFN alpha/beta receptor in IFN beta-treated patients with multiple sclerosis
[作者：Gilli, F; Valentino, P; Caldano, M; Granieri, L; Capobianco, M; Malucchi, S; Sala, A; Marnetto, F; Bertolotto, A,期刊：Neurology, 页码：1940-1947 , 文章类型： Article，,卷期：2008年71-24]
- Background: The cytokine interferon beta (IFN beta) is successfully used in the treatment of multiple sclerosis (MS), although there is a high degree of variability in the response. A common mechanism involved in the mod...
- Tolerability, adherence, and patient outcomes
[作者：Ross, AP,期刊：Neurology, 页码：S21-S23 , 文章类型： Article，,卷期：2008年71-24]
- Providing optimal patient care in multiple sclerosis ( MS) is dependent on both the patient and the healthcare system. One of the greatest challenges to optimal patient care is ensuring patient adherence to treatment. Th...
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