BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 21576112)

  • 1. Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
    Auer-Grumbach M; Weger M; Fink-Puches R; Papić L; Fröhlich E; Auer-Grumbach P; El Shabrawi-Caelen L; Schabhüttl M; Windpassinger C; Senderek J; Budka H; Trajanoski S; Janecke AR; Haas A; Metze D; Pieber TR; Guelly C
    Brain; 2011 Jun; 134(Pt 6):1839-52. PubMed ID: 21576112
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.
    Šafka Brozková D; Laššuthová P; Neupauerová J; Krůtová M; Haberlová J; Stejskal D; Seeman P
    Brain; 2013 Jul; 136(Pt 7):e232. PubMed ID: 23328402
    [No Abstract]   [Full Text] [Related]  

  • 3. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
    Taioli F; Cabrini I; Cavallaro T; Acler M; Fabrizi GM
    Brain; 2011 Feb; 134(Pt 2):608-17. PubMed ID: 21252112
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ
    Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
    Lotery AJ; Baas D; Ridley C; Jones RP; Klaver CC; Stone E; Nakamura T; Luff A; Griffiths H; Wang T; Bergen AA; Trump D
    Hum Mutat; 2006 Jun; 27(6):568-74. PubMed ID: 16652333
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.
    Chaouch M; Allal Y; De Sandre-Giovannoli A; Vallat JM; Amer-el-Khedoud A; Kassouri N; Chaouch A; Sindou P; Hammadouche T; Tazir M; Lévy N; Grid D
    Neuromuscul Disord; 2003 Jan; 13(1):60-7. PubMed ID: 12467734
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
    Nicholson G; Lenk GM; Reddel SW; Grant AE; Towne CF; Ferguson CJ; Simpson E; Scheuerle A; Yasick M; Hoffman S; Blouin R; Brandt C; Coppola G; Biesecker LG; Batish SD; Meisler MH
    Brain; 2011 Jul; 134(Pt 7):1959-71. PubMed ID: 21705420
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
    Sevilla T; Lupo V; Martínez-Rubio D; Sancho P; Sivera R; Chumillas MJ; García-Romero M; Pascual-Pascual SI; Muelas N; Dopazo J; Vílchez JJ; Palau F; Espinós C
    Brain; 2016 Jan; 139(Pt 1):62-72. PubMed ID: 26497905
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.
    Jones RP; Ridley C; Jowitt TA; Wang MC; Howard M; Bobola N; Wang T; Bishop PN; Kielty CM; Baldock C; Lotery AJ; Trump D
    Invest Ophthalmol Vis Sci; 2010 May; 51(5):2356-62. PubMed ID: 20007835
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
    Motley WW; Palaima P; Yum SW; Gonzalez MA; Tao F; Wanschitz JV; Strickland AV; Löscher WN; De Vriendt E; Koppi S; Medne L; Janecke AR; Jordanova A; Zuchner S; Scherer SS
    Brain; 2016 Jun; 139(Pt 6):1649-56. PubMed ID: 27009151
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
    Claeys KG; Züchner S; Kennerson M; Berciano J; Garcia A; Verhoeven K; Storey E; Merory JR; Bienfait HM; Lammens M; Nelis E; Baets J; De Vriendt E; Berneman ZN; De Veuster I; Vance JM; Nicholson G; Timmerman V; De Jonghe P
    Brain; 2009 Jul; 132(Pt 7):1741-52. PubMed ID: 19502294
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Missense variations in the fibulin 5 gene and age-related macular degeneration.
    Stone EM; Braun TA; Russell SR; Kuehn MH; Lotery AJ; Moore PA; Eastman CG; Casavant TL; Sheffield VC
    N Engl J Med; 2004 Jul; 351(4):346-53. PubMed ID: 15269314
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
    Calvo J; Funalot B; Ouvrier RA; Lazaro L; Toutain A; De Mas P; Bouche P; Gilbert-Dussardier B; Arne-Bes MC; Carrière JP; Journel H; Minot-Myhie MC; Guillou C; Ghorab K; Magy L; Sturtz F; Vallat JM; Magdelaine C
    Arch Neurol; 2009 Dec; 66(12):1511-6. PubMed ID: 20008656
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
    Tang B; Liu X; Zhao G; Luo W; Xia K; Pan Q; Cai F; Hu Z; Zhang C; Chen B; Zhang F; Shen L; Zhang R; Jiang H
    Arch Neurol; 2005 Aug; 62(8):1201-7. PubMed ID: 16087758
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
    Aharoni S; Barwick KE; Straussberg R; Harlalka GV; Nevo Y; Chioza BA; McEntagart MM; Mimouni-Bloch A; Weedon M; Crosby AH
    BMC Med Genet; 2016 Nov; 17(1):82. PubMed ID: 27852232
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
    Street VA; Meekins G; Lipe HP; Seltzer WK; Carter GT; Kraft GH; Bird TD
    Neuromuscul Disord; 2002 Oct; 12(7-8):643-50. PubMed ID: 12207932
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.
    Elahi E; Kalhor R; Banihosseini SS; Torabi N; Pour-Jafari H; Houshmand M; Amini SS; Ramezani A; Loeys B
    J Invest Dermatol; 2006 Jul; 126(7):1506-9. PubMed ID: 16691202
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Targeting the colony stimulating factor 1 receptor alleviates two forms of Charcot-Marie-Tooth disease in mice.
    Klein D; Patzkó Á; Schreiber D; van Hauwermeiren A; Baier M; Groh J; West BL; Martini R
    Brain; 2015 Nov; 138(Pt 11):3193-205. PubMed ID: 26297559
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
    Auer-Grumbach M; Strasser-Fuchs S; Robl T; Windpassinger C; Wagner K
    Neurology; 2003 Nov; 61(10):1435-7. PubMed ID: 14638973
    [TBL] [Abstract][Full Text] [Related]  

  • 20. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
    Birouk N; LeGuern E; Maisonobe T; Rouger H; Gouider R; Tardieu S; Gugenheim M; Routon MC; Léger JM; Agid Y; Brice A; Bouche P
    Neurology; 1998 Apr; 50(4):1074-82. PubMed ID: 9566397
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.