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mutations in the PLP1 gene, and absence of myelin by MRI. In patients with a PLP1 duplication mutation, the most common cause of Pelizaeus - Merzbacher disease , the pathology is poorly defined because ...
of Pelizaeus - Merzbacher disease . Mol Genet Metab 2012 ; 106 : 108 – 114 . Google Scholar Crossref Search ADS PubMed WorldCat 36 Windrem MS , Nunes MC, Rashbaum WK et al. Fetal and adult human oligodendrocyte ...
unrelated patients . This can be done in a relatively short time, and the PMP22 gene in hereditary peripheral neuropathies, as well as the PLP gene in Pelizaeus - Merzbacher disease and spastic paraplegia ...
.AJoutelCCorpechotADucrosNotch 3 mutations in CADASIL, a hereditary adult -onset condition causing stroke and dementia.Nature.1996;383:707-710.CDCampKLöwenbergAn American family with Pelizaeus - Merzbacher disease.Arch Neurol ...
-siRNA as a preferable choice to target duplicated disease genes, avoiding potentially harmful excessive downregulation. As a proof-of-concept, we studied autosomal dominant adult -onset demyelinating ...
of proteolipid protein (PLP, a major myelin sheath component whose duplication leads to Pelizaeus - Merzbacher Disease , OMIM#300401) by reduced Yin-Yang 1 transcription factor (TF) binding (17,18). Since 2010, we ...
Abstract Dystonia is a common movement disorder seen by neurologists in clinic. Genetic forms of the disease are important to recognize clinically and also provide valuable information about possible ...
with Becker (BMD) muscular dystrophy. J Neurol Sci 1991 ; 102 : 190 -196. 36 Regis S, Grossi S, Lualdi S, Biancheri R, Filocamo M. Diagnosis of Pelizaeus - Merzbacher disease : detection of proteolipid protein ...
115. Norman, R.M., et al: Pelizaeus - Merzbacher Disease : A Form of Sudanophil Leukodystrophy , J Neurol Neurosurg Psychiat 29:521-529 ( (Dec) ) 1966.Crossref 116. Yudell, A., et al: The Neuropathy ...
of disease risk, with the strongest association in FTD with GRN mutations (FTD-GRN) (Finch et al., 2011). In particular, individuals with GRN mutations who also carry a TMEM106B ‘protective’ haplotype have ∼50 ...
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