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Journal Abstract Search

428 related items for PubMed ID: 22422208

  • 1. 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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  • 2. 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 Feb; 17(4):293-300. PubMed ID: 24519770
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  • 3. 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
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  • 12. A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease.
    Kibe T, Miyahara J, Yokochi K, Iwaki A.
    Brain Dev; 2009 Mar; 31(3):248-51. PubMed ID: 18783902
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  • 13.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Wolf NI, van Spaendonk RML, Hobson GM, Kamholz J.
    ; 1993 Mar. PubMed ID: 20301361
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  • 14. Inherited white matter disorders: Hypomyelination (myelin disorders).
    Perrier S, Gauquelin L, Bernard G.
    Handb Clin Neurol; 2024 Mar; 204():197-223. PubMed ID: 39322379
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  • 15. Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.
    Vaurs-Barriere C, Bonnet-Dupeyron MN, Combes P, Gauthier-Barichard F, Reveles XT, Schiffmann R, Bertini E, Rodriguez D, Vago P, Armour JA, Saugier-Veber P, Frebourg T, Leach RJ, Boespflug-Tanguy O.
    Ann Hum Genet; 2006 Jan; 70(Pt 1):66-77. PubMed ID: 16441258
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  • 16. 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. 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 25; 43(3):159-61. PubMed ID: 22610664
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  • 18. 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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  • 19. 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 05; 8(11):837-45. PubMed ID: 11093273
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  • 20. Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene.
    Sartori S, Burlina AB, Salviati L, Trevisson E, Toldo I, Laverda AM, Burlina AP.
    Eur J Paediatr Neurol; 2008 Jul 05; 12(4):348-50. PubMed ID: 17881259
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