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Extensive cerebral ...
Extensive cerebral white matter abnormality without clinical symptoms : a new hereditary condition?
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Autti, Taina (author)
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Muttilainen, M. (author)
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- Raininko, Raili (author)
- Uppsala universitet,Institutionen för onkologi, radiologi och klinisk immunologi,RAD
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Heiskala, H. (author)
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Puranen, J. (author)
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Häkkinen, A-M. (author)
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Tienari, P. (author)
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Santavuori, Pirkko (author)
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Suominen, P. (author)
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Somer, M. (author)
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(creator_code:org_t)
- 1999
- 1999
- English.
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In: Annals of Neurology. - 0364-5134 .- 1531-8249. ; 45:6, s. 801-5
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- 30-year-old father and his 2 sons with slight hyperkinesia and mildly dysmorphic features and their close relatives were examined clinically and with computed tomography (CT) and magnetic resonance imaging (MRI). Neurophysiological and biochemical examinations were normal; however, brain MRI of the father and sons revealed extensive cerebral white matter changes. No radiological progression could be detected at a 13-year follow-up examination of the father, and proton magnetic resonance spectroscopy (MRS) of the father at the age of 30 years was normal. MRI findings in the relatives were normal, suggesting an autosomal dominant syndrome due to a new mutation in the father.
Keyword
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Autti, Taina
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Muttilainen, M.
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Raininko, Raili
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Heiskala, H.
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Puranen, J.
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Häkkinen, A-M.
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show more...
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Tienari, P.
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Santavuori, Pirk ...
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Suominen, P.
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Somer, M.
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show less...
- Articles in the publication
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Annals of Neurol ...
- By the university
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Uppsala University