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Quoted phrase not found in phrase index: "Hypomyelinating leukodystrophy 4"
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TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
Tonduti D, Aiello C, Renaldo F, Dorboz I, Saaman S, Rodriguez D, Fettah H, Elmaleh M, Biancheri R, Barresi S, Boccone L, Orcesi S, Pichiecchio A, Zangaglia R, Maurey H, Rossi A, Boespflug-Tanguy O, Bertini E. Tonduti D, et al. Eur J Paediatr Neurol. 2016 Mar;20(2):323-330. doi: 10.1016/j.ejpn.2015.11.006. Epub 2015 Nov 28. Eur J Paediatr Neurol. 2016. PMID: 26643067
After the recent identification of TUBB4A mutation as the genetic basis of the disease, the clinical and neuroimaging phenotype related to TUBB4A mutations expanded, ranging from primary dystonia type 4 with normal MRI to severe H-ABC cases. PATIENTS AND METHODS: Th …
After the recent identification of TUBB4A mutation as the genetic basis of the disease, the clinical and neuroimaging phenotype relat …
Gene suppressing therapy for Pelizaeus-Merzbacher disease using artificial microRNA.
Li H, Okada H, Suzuki S, Sakai K, Izumi H, Matsushima Y, Ichinohe N, Goto YI, Okada T, Inoue K. Li H, et al. JCI Insight. 2019 May 16;4(10):e125052. doi: 10.1172/jci.insight.125052. eCollection 2019 May 16. JCI Insight. 2019. PMID: 31092737 Free PMC article.
The most common cause of Pelizaeus-Merzbacher disease (PMD), an X-linked hypomyelinating leukodystrophy, is genomic duplication encompassing the entire proteolipid protein 1 (PLP1) gene. Although the exact molecular and cellular mechanisms underlying PLP1 duplicatio …
The most common cause of Pelizaeus-Merzbacher disease (PMD), an X-linked hypomyelinating leukodystrophy, is genomic duplicatio …
Neural stem cell engraftment and myelination in the human brain.
Gupta N, Henry RG, Strober J, Kang SM, Lim DA, Bucci M, Caverzasi E, Gaetano L, Mandelli ML, Ryan T, Perry R, Farrell J, Jeremy RJ, Ulman M, Huhn SL, Barkovich AJ, Rowitch DH. Gupta N, et al. Sci Transl Med. 2012 Oct 10;4(155):155ra137. doi: 10.1126/scitranslmed.3004373. Sci Transl Med. 2012. PMID: 23052294 Free PMC article. Clinical Trial.
Pelizaeus-Merzbacher disease (PMD) is a rare leukodystrophy caused by mutation of the proteolipid protein 1 gene. Defective oligodendrocytes in PMD fail to myelinate axons, causing global neurological dysfunction. ...Modest gains in neurological function were observed in t …
Pelizaeus-Merzbacher disease (PMD) is a rare leukodystrophy caused by mutation of the proteolipid protein 1 gene. Defective oligodend …