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Items: 1 to 20 of 317

1.

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
2.

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
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.

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
5.

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.

Garbern JY.

Cell Mol Life Sci. 2007 Jan;64(1):50-65. Review.

PMID:
17115121
6.

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.

7.

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.

8.

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
9.

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.

Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR.

Hum Mol Genet. 2006 Jul 15;15(14):2250-65. Epub 2006 Jun 14.

PMID:
16774974
10.
11.

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
12.

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.

Hobson GM, Garbern JY.

Semin Neurol. 2012 Feb;32(1):62-7. doi: 10.1055/s-0032-1306388. Epub 2012 Mar 15. Review.

PMID:
22422208
13.
14.

Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.

Vaurs-Barriere C, Bonnet-Dupeyron MN, Combes P, Gauthier-Barichard F, Reveles XT, Schiffmann R, Bertini E, Rodriguez D, Vago P, Armour JA, Saugier-Veber P, Frebourg T, Leach RJ, Boespflug-Tanguy O.

Ann Hum Genet. 2006 Jan;70(Pt 1):66-77.

15.

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
16.

Processing of PLP in a model of Pelizaeus-Merzbacher disease/SPG2 due to the rumpshaker mutation.

McLaughlin M, Barrie JA, Karim S, Montague P, Edgar JM, Kirkham D, Thomson CE, Griffiths IR.

Glia. 2006 May;53(7):715-22.

PMID:
16506223
17.

PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.

Mądry J, Hoffman-Zacharska D, Królicki L, Jakuciński M, Friedman A.

Neurol Neurochir Pol. 2010 Sep-Oct;44(5):511-5.

PMID:
21082496
18.

[Pelizaeus-Merzbacher disease(PMD)/spastic paraplegia 2(SPG2)].

Eto Y.

Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):536-7. Review. Japanese. No abstract available.

PMID:
11032015
19.

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.

Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O.

Nat Genet. 1994 Mar;6(3):257-62.

PMID:
8012387
20.

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endziniene M, Wu Y, Chong WK, Malcolm S, Surtees R, Garbern JY, Woodward KJ.

Brain. 2005 Apr;128(Pt 4):743-51. Epub 2005 Feb 2.

PMID:
15689360

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