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Year | Number of Results |
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2000 | 1 |
2011 | 1 |
2012 | 1 |
2024 | 0 |
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Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
J Hum Genet. 2012 Sep;57(9):580-6. doi: 10.1038/jhg.2012.71. Epub 2012 Jun 14.
J Hum Genet. 2012.
PMID: 22695888
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O.
Cailloux F, et al.
Eur J Hum Genet. 2000 Nov;8(11):837-45. doi: 10.1038/sj.ejhg.5200537.
Eur J Hum Genet. 2000.
PMID: 11093273
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Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.
Grossi S, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A, Vaurs-Barrière C, Cooper DN, Filocamo M.
Grossi S, et al.
Orphanet J Rare Dis. 2011 Jun 16;6:40. doi: 10.1186/1750-1172-6-40.
Orphanet J Rare Dis. 2011.
PMID: 21679407
Free PMC article.
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