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Journal Abstract Search

139 related items for PubMed ID: 31137068

  • 21. Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.
    Carvalho CM, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski JR.
    Clin Genet; 2012 Jun; 81(6):532-41. PubMed ID: 21623770
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  • 23. 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 05; 121(17):1638-42. PubMed ID: 19024090
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  • 28. N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease.
    Burlina AP, Ferrari V, Burlina AB, Ermani M, Boespflug-Tanguy O, Bertini E, Clinical European Network on Brain Dysmyelinating Disease.
    Adv Exp Med Biol; 2006 Sep 05; 576():353-9; discussion 361-3. PubMed ID: 16802726
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  • 30. High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
    Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CM, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E.
    Clin Genet; 2013 Jan 05; 83(1):66-72. PubMed ID: 22283455
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  • 31. Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations.
    Laukka JJ, Makki MI, Lafleur T, Stanley J, Kamholz J, Garbern JY.
    J Neurosci Res; 2014 Dec 05; 92(12):1723-32. PubMed ID: 25156430
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  • 32. 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 05; 128(Pt 4):743-51. PubMed ID: 15689360
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  • 33. 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 05; 138(Pt 9):2521-36. PubMed ID: 26179919
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  • 34. A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease.
    Fukumura S, Adachi N, Nagao M, Tsutsumi H.
    Brain Dev; 2011 Sep 05; 33(8):697-9. PubMed ID: 21177054
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  • 36. Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene.
    Hudson LD.
    J Child Neurol; 2003 Sep 05; 18(9):616-24. PubMed ID: 14572140
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  • 37. 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 05; 29(8):1028-36. PubMed ID: 18470932
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  • 38. The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.
    Woodward KJ.
    Expert Rev Mol Med; 2008 May 19; 10():e14. PubMed ID: 18485258
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  • 39. Pelizaeus-Merzbacher disease, easily misdiagnosed as cerebral palsy: a report of a three-generation family.
    Chen YC, Liang WC, Su YN, Jong YJ.
    Pediatr Neonatol; 2014 Apr 19; 55(2):150-3. PubMed ID: 23597542
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  • 40. 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. PubMed ID: 15450775
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