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Your search keyword '"Ramesh Konanki"' showing total 3 results
Start Over Author "Ramesh Konanki" Journal journal of child neurology
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3 results on '"Ramesh Konanki"'

1. Infantile-Onset Alexander Disease

Author

Ramesh, Konanki, primary, Sharma, Suvasini, additional, Kumar, Atin, additional, Salomons, Gajja S., additional, van der Knaap, Marjo S., additional, and Gulati, Sheffali, additional

Published
2012
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3. Infantile-Onset Alexander Disease: A Genetically Proven Case With Mild Clinical Course in a 6-Year-Old Indian Boy.

Author

Ramesh, Konanki, Sharma, Suvasini, Kumar, Atin, Salomons, Gajja S., van der Knaap, Marjo S., and Gulati, Sheffali

Subjects
*CASE studies, *BRAIN imaging, *FRONTAL lobe diseases, *DEVELOPMENTAL delay, *BRAIN diseases
Abstract

Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly involving frontal lobes. We report a 6-year-old Indian boy with infantile-onset Alexander disease, who has an unusually mild clinical course and a de novo p.Leu359Val mutation in the glial fibrillary acidic protein gene. [ABSTRACT FROM AUTHOR]

Published
2013
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