12 research outputs found
Non-invasive diagnostic assessment of extensive vertebral artery tortuosity with enlargement of the intervertebral foramen
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Leptomeningeal metastases from ethmoid sinus adenocarcinoma: clinico-radiological correlation
No full textMRI of the brain in cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease).
No full textNon-invasive diagnostic assessment of extensive vertebral artery tortuosity with enlargement of the intervertebral foramen.
No full textCerebrotendinous xanthomatosis: report of two Brazilian brothers.
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58819.pdf (publisher's version ) (Open Access)Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lipid storage secondary to a sterol 27-hydroxylase deficiency in the formation of cholic and chenodeoxycholic acids. We describe two Brazilian brothers with cognitive impairement and chronic diarrhea. One of them also presents bilateral cataracts. Neurological findings were progressive walking deficit, limb ataxia and pyramidal signs. Both patients had bilateral Achilles tendon xanthomata. Magnetic resonance image showed signal alterations in cerebellar hemispheres. We describe these cases with molecular genetic analysis confirming diagnosis and comparing with previous literature. The CYP27A1 gene study showed a C1187T mutation on exon 6
Quantum clocks and the temporal localisability of events in the presence of gravitating quantum systems
No full textNovel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
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