BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

211 related articles for article (PubMed ID: 21092922)

  • 1. 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]  

  • 2. Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.
    Accogli A; Russell L; Sébire G; Rivière JB; St-Onge J; Addour-Boudrahem N; Laporte AD; Rouleau GA; Saint-Martin C; Srour M
    Neurogenetics; 2019 May; 20(2):103-108. PubMed ID: 30924036
    [TBL] [Abstract][Full Text] [Related]  

  • 3. AIMP1/p43 mutation and PMLD.
    Biancheri R; Rossi A; Zara F; Filocamo M
    Am J Hum Genet; 2011 Mar; 88(3):391; author reply 393-5. PubMed ID: 21397066
    [No Abstract]   [Full Text] [Related]  

  • 4. 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]  

  • 5. Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.
    Boespflug-Tanguy O; Aubourg P; Dorboz I; Bégou M; Giraud G; Sarret C; Vaurs-Barrière C
    Am J Hum Genet; 2011 Mar; 88(3):392-3; author reply 393-5. PubMed ID: 21397067
    [No Abstract]   [Full Text] [Related]  

  • 6. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
    Magen D; Georgopoulos C; Bross P; Ang D; Segev Y; Goldsher D; Nemirovski A; Shahar E; Ravid S; Luder A; Heno B; Gershoni-Baruch R; Skorecki K; Mandel H
    Am J Hum Genet; 2008 Jul; 83(1):30-42. PubMed ID: 18571143
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
    Lossos A; Elazar N; Lerer I; Schueler-Furman O; Fellig Y; Glick B; Zimmerman BE; Azulay H; Dotan S; Goldberg S; Gomori JM; Ponger P; Newman JP; Marreed H; Steck AJ; Schaeren-Wiemers N; Mor N; Harel M; Geiger T; Eshed-Eisenbach Y; Meiner V; Peles E
    Brain; 2015 Sep; 138(Pt 9):2521-36. PubMed ID: 26179919
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 74(22):1785-9. PubMed ID: 20513814
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
    Owczarek-Lipska M; Mulahasanovic L; Obermaier CD; Hörtnagel K; Neubauer BA; Korenke GC; Biskup S; Neidhardt J
    Mol Biol Rep; 2019 Aug; 46(4):4507-4516. PubMed ID: 31270756
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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;
    Gene; 2013 Jan; 513(2):233-8. PubMed ID: 23142375
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.
    Osaka H; Hamanoue H; Yamamoto R; Nezu A; Sasaki M; Saitsu H; Kurosawa K; Shimbo H; Matsumoto N; Inoue K
    Ann Neurol; 2010 Aug; 68(2):250-4. PubMed ID: 20695017
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.
    Salviati L; Trevisson E; Baldoin MC; Toldo I; Sartori S; Calderone M; Tenconi R; Laverda A
    Neurogenetics; 2007 Jan; 8(1):57-60. PubMed ID: 17031678
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 83(1):66-72. PubMed ID: 22283455
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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; 17(4):293-300. PubMed ID: 24519770
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neurogenetics of Pelizaeus-Merzbacher disease.
    Osório MJ; Goldman SA
    Handb Clin Neurol; 2018; 148():701-722. PubMed ID: 29478609
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.
    Ji T; Li D; Wu Y; Xiao J; Ji H; Wu X; Wang J; Jiang Y
    Minerva Pediatr (Torino); 2023 Feb; 75(1):32-38. PubMed ID: 27057822
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.