نتایج جستجو برای: pelizaeus
تعداد نتایج: 366 فیلتر نتایج به سال:
Journal:
:Journal of Neuroscience
2013
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
Journal:
:Brain : a journal of neurology
2005
Nicole I Wolf
Erik A Sistermans
Maria Cundall
Grace M Hobson
Angelique P Davis-Williams
Rodger Palmer
Paula Stubbs
Sally Davies
Milda Endziniene
Yvonne Wu
Wui K Chong
Sue Malcolm
Robert Surtees
James Y Garbern
Karen J Woodward
We describe five boys from different families with an atypically severe form of Pelizaeus-Merzbacher disease (PMD) who have three, and in one case, five copies of the proteolipid protein (PLP1) gene. This is the first report of more than two copies of PLP1 in PMD patients and clearly demonstrates that severe clinical symptoms are associated with increased PLP1 gene dosage. Previously, duplicati...
Journal:
:Human Genome Variation
2018
Journal:
:Lipids in Health and Disease
2011
Journal:
:European Journal of Human Genetics
2010
Journal:
:Journal of Neurological Disorders
2016
Journal:
:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
2009
Journal:
:Journal of Human Genetics
2012
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