474 related articles for article (PubMed ID: 24103481)
1. 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; 533(1):447-50. PubMed ID: 24103481
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 23245814
[TBL] [Abstract][Full Text] [Related]
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; 224(1-2):83-7. PubMed ID: 15450775
[TBL] [Abstract][Full Text] [Related]
4. 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; 17(4):293-300. PubMed ID: 24519770
[TBL] [Abstract][Full Text] [Related]
5. Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2.
Matsufuji M; Osaka H; Gotoh L; Shimbo H; Takashima S; Inoue K
Pediatr Neurol; 2013 Dec; 49(6):477-81. PubMed ID: 24095575
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 19955111
[TBL] [Abstract][Full Text] [Related]
7. Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.
Sivakumar K; Sambuughin N; Selenge B; Nagle JW; Baasanjav D; Hudson LD; Goldfarb LG
Ann Neurol; 1999 May; 45(5):680-3. PubMed ID: 10319897
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 11093273
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 18470932
[TBL] [Abstract][Full Text] [Related]
10. The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.
Woodward KJ
Expert Rev Mol Med; 2008 May; 10():e14. PubMed ID: 18485258
[TBL] [Abstract][Full Text] [Related]
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; 121(17):1638-42. PubMed ID: 19024090
[TBL] [Abstract][Full Text] [Related]
12. Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation.
Kubota K; Saito Y; Ohba C; Saitsu H; Fukuyama T; Ishiyama A; Saito T; Komaki H; Nakagawa E; Sugai K; Sasaki M; Matsumoto N
Brain Dev; 2015 Jan; 37(1):158-62. PubMed ID: 24685771
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 22343157
[TBL] [Abstract][Full Text] [Related]
14. 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
Brain; 2015 Sep; 138(Pt 9):2521-36. PubMed ID: 26179919
[TBL] [Abstract][Full Text] [Related]
15. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
Inoue K
Neurogenetics; 2005 Feb; 6(1):1-16. PubMed ID: 15627202
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 19328639
[TBL] [Abstract][Full Text] [Related]
17. Perturbed interactions of mutant proteolipid protein/DM20 with cholesterol and lipid rafts in oligodendroglia: implications for dysmyelination in spastic paraplegia.
Krämer-Albers EM; Gehrig-Burger K; Thiele C; Trotter J; Nave KA
J Neurosci; 2006 Nov; 26(45):11743-52. PubMed ID: 17093095
[TBL] [Abstract][Full Text] [Related]
18. SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.
Rubegni A; Battisti C; Tessa A; Cerase A; Doccini S; Malandrini A; Santorelli FM; Federico A
J Neurol Sci; 2017 Apr; 375():198-202. PubMed ID: 28320130
[TBL] [Abstract][Full Text] [Related]
19. Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
Hodes ME; Zimmerman AW; Aydanian A; Naidu S; Miller NR; Garcia Oller JL; Barker B; Aleck KA; Hurley TD; Dlouhy SR
Am J Med Genet; 1999 Jan; 82(2):132-9. PubMed ID: 9934976
[TBL] [Abstract][Full Text] [Related]
20. An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene.
Suzuki SO; Iwaki T; Arakawa K; Furuya H; Fujii N; Iwaki A
Acta Neuropathol; 2011 Dec; 122(6):775-81. PubMed ID: 22101368
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]