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Journal Abstract Search

151 related items for PubMed ID: 34840390

  • 1. 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; 46(6):493-497. PubMed ID: 34840390
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  • 3. Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
    Biancheri R, Rosano C, Denegri L, Lamantea E, Pinto F, Lanza F, Severino M, Filocamo M.
    Eur J Hum Genet; 2013 Jan; 21(1):34-9. PubMed ID: 22669416
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  • 8. 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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  • 13. 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 25; 83(1):66-72. PubMed ID: 22283455
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  • 14. Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.
    Henneke M, Gegner S, Hahn A, Plecko-Startinig B, Weschke B, Gärtner J, Brockmann K.
    Neurology; 2010 Jun 01; 74(22):1785-9. PubMed ID: 20513814
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  • 16. A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?
    Yalcinkaya C, Erturk O, Tuysuz B, Yesil G, Verbeke JI, Keyser B, Stuhrmann M, Steinemann D, Sistermans EA, van der Knaap MS.
    Neuropediatrics; 2012 Jun 01; 43(3):159-61. PubMed ID: 22610664
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  • 17. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
    Hobson GM, Garbern JY.
    Semin Neurol; 2012 Feb 01; 32(1):62-7. PubMed ID: 22422208
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  • 20. Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
    Lyahyai J, Ouled Amar Bencheikh B, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A.
    BMC Pediatr; 2018 Feb 27; 18(1):90. PubMed ID: 29486744
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