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Journal Abstract Search

148 related items for PubMed ID: 22610664

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  • 3. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
    Hobson GM, Garbern JY.
    Semin Neurol; 2012 Feb; 32(1):62-7. PubMed ID: 22422208
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  • 5. Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
    Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER.
    Mol Genet Metab; 2011 Dec; 104(4):637-43. PubMed ID: 21959080
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  • 7. Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.
    Kammoun Jellouli N, Salem IH, Ellouz E, Louhichi N, tlili A, Kammoun F, Triki C, Fakhfakh F, Tunisian Network on Mental Retardation Study.
    Gene; 2013 Jan 25; 513(2):233-8. PubMed ID: 23142375
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  • 10. Inherited white matter disorders: Hypomyelination (myelin disorders).
    Perrier S, Gauquelin L, Bernard G.
    Handb Clin Neurol; 2024 Jan 25; 204():197-223. PubMed ID: 39322379
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  • 14. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.
    Bugiani M, Al Shahwan S, Lamantea E, Bizzi A, Bakhsh E, Moroni I, Balestrini MR, Uziel G, Zeviani M.
    Neurology; 2006 Jul 25; 67(2):273-9. PubMed ID: 16707726
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  • 17. Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.
    Plecko B, Stöckler-Ipsiroglu S, Gruber S, Mlynarik V, Moser E, Simbrunner J, Ebner F, Bernert G, Harrer G, Gal A, Prayer D.
    Neuropediatrics; 2003 Jun 25; 34(3):127-36. PubMed ID: 12910435
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  • 18. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
    Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J.
    Am J Hum Genet; 2004 Aug 25; 75(2):251-60. PubMed ID: 15192806
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  • 19. Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.
    Javadikooshesh S, Zaimkohan H, Pourghorban P, Bahramim F, Ebadi N.
    Iran J Med Sci; 2021 Nov 25; 46(6):493-497. PubMed ID: 34840390
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