These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

115 related articles for article (PubMed ID: 22610664)

  • 21. Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.
    Wolf NI; Cundall M; Rutland P; Rosser E; Surtees R; Benton S; Chong WK; Malcolm S; Ebinger F; Bitner-Glindzicz M; Woodward KJ
    Neurogenetics; 2007 Jan; 8(1):39-44. PubMed ID: 16969684
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease.
    Flores-Obando RE; Freidin MM; Hernández AI; Abrams CK
    Mol Cell Neurosci; 2022 May; 120():103716. PubMed ID: 35276347
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
    Vaurs-Barrière C; Deville M; Sarret C; Giraud G; Des Portes V; Prats-Viñas JM; De Michele G; Dan B; Brady AF; Boespflug-Tanguy O; Touraine R
    Ann Neurol; 2009 Jan; 65(1):114-8. PubMed ID: 19194886
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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; 12(4):348-50. PubMed ID: 17881259
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
    Shimojima K; Okumura A; Ikeno M; Nishimura A; Saito A; Saitsu H; Matsumoto N; Yamamoto T
    Brain Dev; 2015 Mar; 37(3):281-5. PubMed ID: 24974158
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
    Fattal-Valevski A; DiMaio MS; Hisama FM; Hobson GM; Davis-Williams A; Garbern JY; Mahoney MJ; Kolodny EH; Pastores GM
    J Child Neurol; 2009 May; 24(5):618-24. PubMed ID: 19151366
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
    Orthmann-Murphy JL; Salsano E; Abrams CK; Bizzi A; Uziel G; Freidin MM; Lamantea E; Zeviani M; Scherer SS; Pareyson D
    Brain; 2009 Feb; 132(Pt 2):426-38. PubMed ID: 19056803
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient.
    Kusk MS; Damgaard B; Risom L; Hansen B; Ostergaard E
    Neuropediatrics; 2016 Oct; 47(5):332-5. PubMed ID: 27405012
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans.
    Tress O; Maglione M; Zlomuzica A; May D; Dicke N; Degen J; Dere E; Kettenmann H; Hartmann D; Willecke K
    PLoS Genet; 2011 Jul; 7(7):e1002146. PubMed ID: 21750683
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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; 32(3):171-9. PubMed ID: 19328639
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.
    Kuipers DJS; Tufekcioglu Z; Bilgiç B; Olgiati S; Dremmen MHG; van IJcken WFJ; Breedveld GJ; Mancini GMS; Hanagasi HA; Emre M; Bonifati V
    Parkinsonism Relat Disord; 2019 Sep; 66():228-231. PubMed ID: 31431325
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Duplication of the PLP gene and the classical form of Pelizaeus-Merzbacher disease].
    Blanco-Barca MO; Eirís-Puñal J; Soler-Regal C; Castro-Gago M
    Rev Neurol; 2003 Sep 1-15; 37(5):436-8. PubMed ID: 14533091
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder.
    Komachali SR; Sheikholeslami M; Salehi M
    Genomics Inform; 2022 Jun; 20(2):e24. PubMed ID: 35794704
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Magnetic resonance imaging pattern recognition in hypomyelinating disorders.
    Steenweg ME; Vanderver A; Blaser S; Bizzi A; de Koning TJ; Mancini GM; van Wieringen WN; Barkhof F; Wolf NI; van der Knaap MS
    Brain; 2010 Oct; 133(10):2971-82. PubMed ID: 20881161
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.
    Diekmann S; Henneke M; Burckhardt BC; Gärtner J
    Eur J Hum Genet; 2010 Sep; 18(9):985-92. PubMed ID: 20442743
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
    Seeman P; Paderova K; Benes V; Sistermans EA
    Int J Mol Med; 2002 Feb; 9(2):125-9. PubMed ID: 11786921
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders].
    Inoue K; Iwaki A; Kurosawa K; Takanashi J; Deguchi K; Yamamoto T; Osaka H
    No To Hattatsu; 2011 Nov; 43(6):435-42. PubMed ID: 22180957
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.
    Feinstein M; Markus B; Noyman I; Shalev H; Flusser H; Shelef I; Liani-Leibson K; Shorer Z; Cohen I; Khateeb S; Sivan S; Birk OS
    Am J Hum Genet; 2010 Dec; 87(6):820-8. PubMed ID: 21092922
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.