Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 186

1.

A novel PLP1 mutation further expands the clinical heterogeneity at the locus.

Hand CK, Bernard G, Dubé MP, Shevell MI, Rouleau GA.

Can J Neurol Sci. 2012 Mar;39(2):220-4.

PMID:
22343157
2.

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.

Med Wieku Rozwoj. 2013 Oct-Dec;17(4):293-300.

3.

A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.

Lee ES, Moon HK, Park YH, Garbern J, Hobson GM.

J Neurol Sci. 2004 Sep 15;224(1-2):83-7.

PMID:
15450775
4.

Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.

Hoffman-Zacharska D, Kmieć T, Poznański J, Jurek M, Bal J.

Brain Dev. 2013 Oct;35(9):877-80. doi: 10.1016/j.braindev.2012.10.018. Epub 2012 Dec 14.

PMID:
23245814
5.

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T.

Brain Dev. 2010 Mar;32(3):171-9. doi: 10.1016/j.braindev.2009.02.011. Epub 2009 Mar 27.

PMID:
19328639
6.

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.

Orphanet J Rare Dis. 2011 Jun 16;6:40. doi: 10.1186/1750-1172-6-40.

7.

Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'.

Svenstrup K, Giraud G, Boespflug-Tanguy O, Danielsen ER, Thomsen C, Rasmussen K, Law I, Vogel A, Stokholm J, Crone C, Hjermind LE, Nielsen JE.

J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):666-72. doi: 10.1136/jnnp.2009.180315. Epub 2009 Dec 1.

PMID:
19955111
8.

PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.

Bonnet-Dupeyron MN, Combes P, Santander P, Cailloux F, Boespflug-Tanguy O, Vaurs-Barrière C.

Hum Mutat. 2008 Aug;29(8):1028-36. doi: 10.1002/humu.20758.

PMID:
18470932
9.

A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.

Noetzli L, Sanz PG, Brodsky GL, Hinckley JD, Giugni JC, Giannaula RJ, Gonzalez-Alegre P, Di Paola J.

Gene. 2014 Jan 1;533(1):447-50. doi: 10.1016/j.gene.2013.09.076. Epub 2013 Oct 5.

PMID:
24103481
10.

Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.

Wang JM, Wu Y, Wang HF, Deng YH, Yang YL, Qin J, Li XY, Wu XR, Jiang YW.

Chin Med J (Engl). 2008 Sep 5;121(17):1638-42.

PMID:
19024090
11.

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.

Woodward KJ.

Expert Rev Mol Med. 2008 May 19;10:e14. doi: 10.1017/S1462399408000677. Review.

PMID:
18485258
12.

A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.

Shiihara T, Watanabe M, Moriyama K, Uematsu M, Sameshima K.

Brain Dev. 2015 Apr;37(4):455-8. doi: 10.1016/j.braindev.2014.06.011. Epub 2014 Jul 16.

PMID:
25043250
13.

Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.

Cambi F, Tang XM, Cordray P, Fain PR, Keppen LD, Barker DF.

Neurology. 1996 Apr;46(4):1112-7.

PMID:
8780101
14.

PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

Inoue K.

Neurogenetics. 2005 Feb;6(1):1-16. Epub 2004 Dec 31. Review.

PMID:
15627202
15.

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.

Eur J Hum Genet. 2000 Nov;8(11):837-45.

16.

Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

Starling A, Rocco P, Cambi F, Hobson GM, Passos Bueno MR, Zatz M.

Am J Med Genet. 2002 Aug 1;111(2):152-6.

PMID:
12210342
17.
18.

Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation.

Battini R, Bianchi MC, Boespflug-Tanguy O, Tosetti M, Bonanni P, Canapicchi R, Cioni G.

Arch Neurol. 2003 Feb;60(2):268-72.

PMID:
12580714
19.

Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.

Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM.

J Child Neurol. 2009 May;24(5):618-24. doi: 10.1177/0883073808327833. Epub 2009 Jan 16.

PMID:
19151366
20.
Items per page

Supplemental Content

Write to the Help Desk