Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jul 2017
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL). ⋯ NEFL-related CMT is clinically and genetically heterogeneous. Based on this study, however, we propose mutational hotspots and relevant clinical-genetic associations that may be helpful in the evaluation of NEFL sequence variants and the differential diagnosis with other forms of CMT.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2017
Letter Randomized Controlled TrialPeduncolopontine nucleus stimulation in progressive supranuclear palsy: a randomised trial.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2017
Editorial CommentIs cardiovascular fitness a risk factor for ALS?