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Journal Abstract Search

137 related items for PubMed ID: 16802726

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  • 42. 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; 55(2):150-3. PubMed ID: 23597542
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  • 44. 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. PubMed ID: 15689360
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  • 45. The COS-7 cell in vitro paradigm to study myelin proteolipid protein 1 gene mutations.
    Gow A.
    Methods Mol Biol; 2003 Apr; 217():263-75. PubMed ID: 12491939
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  • 50. 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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  • 51. 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 15; 32(3):171-9. PubMed ID: 19328639
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  • 52. Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
    Tonduti D, Mura E, Masnada S, Bertini E, Aiello C, Zini D, Parmeggiani L, Cantalupo G, Talenti G, Veggiotti P, Spaccini L, Iascone M, Parazzini C.
    J Hum Genet; 2021 Oct 15; 66(10):1035-1037. PubMed ID: 33785861
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  • 56. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization.
    Lee JA, Cheung SW, Ward PA, Inoue K, Lupski JR.
    Prenat Diagn; 2005 Dec 15; 25(13):1188-91. PubMed ID: 16353282
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  • 59. Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease.
    Woodward K, Cundall M, Palmer R, Surtees R, Winter RM, Malcolm S.
    Am J Med Genet A; 2003 Apr 01; 118A(1):15-24. PubMed ID: 12605435
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