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SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
It is indicated that mutations in the spatascin gene could cause a much wider spectrum of clinical features than previously recognized, including autosomal recessive juvenile amyotrophic lateral sclerosis.
Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
The results directly implicate a reticulon protein in axonopathy, show that this protein participates in a network of interactions among HSP proteins involved in ER shaping, and further support the hypothesis that abnormal ER morphogenesis is a pathogenic mechanism in HSP.
ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease
It is shown that KIAA1840 mutations can manifest also as recessive Charcot-Marie-Tooth disease and 12 kindreds with 15 different mutations are described, two of which have not been reported previously.
SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage
Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): interim results.
Addition of MR imaging to the screening regimen for high-risk women may enable detection of otherwise unsuspected breast cancers.
Gadobenate dimeglumine-enhanced MRI of the breast: analysis of dose response and comparison with gadopentetate dimeglumine.
Gadobenate dimeglumine is a capable diagnostic agent for MRI of the breast and appears to offer advantages over doses of 0.1 mmol/kg, although more variable specificity values were obtained.
Subthalamic stimulation activates internal pallidus: Evidence from cGMP microdialysis in PD patients
Elevated cGMP extracellular concentrations in the internal segment of the globus pallidus are found, despite negligible changes in glutamate levels, during a clinically effective STN‐DBS, supporting the view that a clinically beneficial effect of STN-DBS is paralleled by an augmentation (and not an inactivation) of the STN output onto the GPi.
miR128 up-regulation correlates with impaired amyloid β(1-42) degradation in monocytes from patients with sporadic Alzheimer's disease