Mutations in the dysferlin gene lead to limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. A cohort of 36 patients affected by dysferlinopathy is described, ...

5 Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany Correspondence to Professor Markus Otto, Department of Neurology, University of Ulm, Ulm 89081, Germany; ...

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A case of pure amusia in a 20 year old left handed non-professional musician is reported. The patient showed an impairment of music abilities in the presence of normal processing of speech and ...

Background Type II spinal muscular atrophy (SMA) often leads to scoliosis in up to 90% of cases. While pharmacological treatments have shown improvements in motor function, their impact on scoliosis ...

Objectives To quantify the External Ventricular Drain-related infection (ERI) rate in a one year period at Cork University Hospital, and to identify any risk factors for infection. Design A ...

1 Departments of Neurology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan 2 Department of Radiology, National Taiwan University Hospital and ...

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Background Todd's paresis is a transient focal weakness of the hand, arm or leg which follows partial seizure activity within that limb. This was first described by Robert Bentley Todd in 1849. The ...

a Department of Neurology, Chiba University School of Medicine, 1–8–1 Inohana, Chuo-ku, Chiba 260–8670, Japan, b Department of Neurology, Dokkyo University School of Medicine, Kitakobayashi 880, Mibu, ...

We analysed clinical trials of pharmacological interventions on patients with amyotrophic lateral sclerosis (ALS), and compared study quality and design features. The systematic review included ...

The National Hospital for Neurology and Neurosurgery, Queen Square and the Reta Lila Weston Institute of Neurological Studies, UCL, London, UK Correspondence to Professor Andrew Lees, Reta Lila Weston ...