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Quoted phrase not found in phrase index: "Pelizaeus-Merzbacher disease, transitional form"
Page 1
Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.
Mierzewska H, Jamroz E, Mazurczak T, Hoffman-Zacharska D, Szczepanik E. Mierzewska H, et al. Folia Neuropathol. 2016;54(1):59-65. doi: 10.5114/fn.2016.58916. Folia Neuropathol. 2016. PMID: 27179222 Free article.
Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. ...In many cases PMD was suspected with a delay of many years, sometimes only after birth of another aff …
Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, whi …
Pelizaeus-Merzbacher disease: classical or connatal?
Scheffer IE, Baraitser M, Wilson J, Harding B, Kendall B, Brett EM. Scheffer IE, et al. Neuropediatrics. 1991 May;22(2):71-8. doi: 10.1055/s-2008-1071420. Neuropediatrics. 1991. PMID: 1857497
The clinical features and investigation results of 7 patients with Pelizaeus-Merzbacher disease (PMD) are described; one patient had a brain biopsy and two patients had an autopsy. ...By contrast, in the classical form of PMD, cerebellar signs and cognitive d …
The clinical features and investigation results of 7 patients with Pelizaeus-Merzbacher disease (PMD) are described; on …
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
Lossos A, Elazar N, Lerer I, Schueler-Furman O, Fellig Y, Glick B, Zimmerman BE, Azulay H, Dotan S, Goldberg S, Gomori JM, Ponger P, Newman JP, Marreed H, Steck AJ, Schaeren-Wiemers N, Mor N, Harel M, Geiger T, Eshed-Eisenbach Y, Meiner V, Peles E. Lossos A, et al. Brain. 2015 Sep;138(Pt 9):2521-36. doi: 10.1093/brain/awv204. Epub 2015 Jul 15. Brain. 2015. PMID: 26179919 Free PMC article.
Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by mutations or rearrangements in PLP1. ...A clinically similar phenotype caused by recessive mutations in GJC2 is known as Pelizaeus-Merzbacher-like disease …
Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by mutations or rearrangements in PLP …
Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.
Diekmann S, Henneke M, Burckhardt BC, Gärtner J. Diekmann S, et al. Eur J Hum Genet. 2010 Sep;18(9):985-92. doi: 10.1038/ejhg.2010.61. Epub 2010 May 5. Eur J Hum Genet. 2010. PMID: 20442743 Free PMC article.
Autosomal recessive mutations in the GJA12/GJC2 gene encoding the gap junction protein connexin47 (C x 47) cause a form of Pelizaeus-Merzbacher-like disease (PMLD) with hypomyelination, nystagmus, impaired psychomotor development and progressive spasticity. . …
Autosomal recessive mutations in the GJA12/GJC2 gene encoding the gap junction protein connexin47 (C x 47) cause a form of Pelizaeus- …
The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
Hoffman-Zacharska D, Mierzewska H, Szczepanik E, Poznański J, Mazurczak T, Jakubiuk-Tomaszuk A, Mądry J, Kierdaszuk A, Bal J. Hoffman-Zacharska D, et al. Med Wieku Rozwoj. 2013 Oct-Dec;17(4):293-300. Med Wieku Rozwoj. 2013. PMID: 24519770
The Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive hypomyelination disorder caused by mutations of the proteolipid protein1 gene (PLP1). ...Obviously the type of mutations, but also other unidentified factors may a!ect the clinical course …
The Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive hypomyelination disorder caused by mutations of the …
Functional characterization of Polr3a hypomyelinating leukodystrophy mutations in the S. cerevisiae homolog, RPC160.
Moir RD, Lavados C, Lee J, Willis IM. Moir RD, et al. Gene. 2021 Feb 5;768:145259. doi: 10.1016/j.gene.2020.145259. Epub 2020 Oct 22. Gene. 2021. PMID: 33148458 Free PMC article.
POLR3A and POLR3B, the two largest Pol III subunits, together form the catalytic center and carry the majority of disease alleles. Disease-causing mutations include invariant and highly conserved residues that are predicted to negatively affect Pol III activi …
POLR3A and POLR3B, the two largest Pol III subunits, together form the catalytic center and carry the majority of disease alleles. …
A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
Shiihara T, Watanabe M, Moriyama K, Uematsu M, Sameshima K. Shiihara T, et al. Brain Dev. 2015 Apr;37(4):455-8. doi: 10.1016/j.braindev.2014.06.011. Epub 2014 Jul 16. Brain Dev. 2015. PMID: 25043250
BACKGROUND: Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic paraplegia 2 (SPG2) are caused by mutations in the proteolipid protein 1 (PLP1) gene. ...
BACKGROUND: Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allel …
Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
Gencic S, Abuelo D, Ambler M, Hudson LD. Gencic S, et al. Am J Hum Genet. 1989 Sep;45(3):435-42. Am J Hum Genet. 1989. PMID: 2773936 Free PMC article.
Patients with the classical form (type I) and the more severely affected, connatal variant of Pelizaeus-Merzbacher disease (type II) would be predicted to display mutation at the PLP locus. The other variants (types III-VI), which have sometimes been c …
Patients with the classical form (type I) and the more severely affected, connatal variant of Pelizaeus-Merzbacher disease …
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
Biancheri R, Rosano C, Denegri L, Lamantea E, Pinto F, Lanza F, Severino M, Filocamo M. Biancheri R, et al. Eur J Hum Genet. 2013 Jan;21(1):34-9. doi: 10.1038/ejhg.2012.93. Epub 2012 Jun 6. Eur J Hum Genet. 2013. PMID: 22669416 Free PMC article.
Homozygous or compound heterozygous mutations in the GJC2 gene, encoding the gap junction protein connexin47 (Cx47), cause the autosomal recessive hypomyelinating Pelizaeus-Merzbacher-like disease (PMLD1, MIM# 608804). Although clinical and neuroradiological …
Homozygous or compound heterozygous mutations in the GJC2 gene, encoding the gap junction protein connexin47 (Cx47), cause the autosomal rec …
A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
Seeman P, Paderova K, Benes V Jr, Sistermans EA. Seeman P, et al. Int J Mol Med. 2002 Feb;9(2):125-9. Int J Mol Med. 2002. PMID: 11786921
Pelizaeus Merzbacher disease (PMD) is an X-linked recessive disorder of the central nervous system myelination caused by mutations involving the proteolipid protein gene (PLP). ...
Pelizaeus Merzbacher disease (PMD) is an X-linked recessive disorder of the central nervous system myelination caused b …
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