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 *

192 related articles for article (PubMed ID: 28424304)

  • 1. Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair.
    Soomro A; Alsop RJ; Negishi A; Kreplak L; Fudge D; Kuczmarski ER; Goldman RD; Rheinstädter MC
    J R Soc Interface; 2017 Apr; 14(129):. PubMed ID: 28424304
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy.
    Roth LA; Johnson-Kerner BL; Marra JD; LaMarca NH; Sproule DM
    Neuromuscul Disord; 2014 Jan; 24(1):48-55. PubMed ID: 23890932
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pili canaliculi as manifestation of giant axonal neuropathy.
    Almeida HL; Garcias G; Silva RM; Batista SL; Pasetto F
    An Bras Dermatol; 2016; 91(5 suppl 1):125-127. PubMed ID: 28300918
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis.
    Johnson-Kerner BL; Roth L; Greene JP; Wichterle H; Sproule DM
    Muscle Nerve; 2014 Oct; 50(4):467-76. PubMed ID: 24947478
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair.
    Treiber-Held S; Budjarjo-Welim H; Reimann D; Richter J; Kretzschmar HA; Hanefeld F
    Neuropediatrics; 1994 Apr; 25(2):89-93. PubMed ID: 8072681
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Pilar dysplasia: an early marker of giant axonal neuropathy].
    Rybojad M; Moraillon I; Bonafé JL; Cambon L; Evrard P
    Ann Dermatol Venereol; 1998 Dec; 125(12):892-3. PubMed ID: 9922862
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
    Bomont P; Cavalier L; Blondeau F; Ben Hamida C; Belal S; Tazir M; Demir E; Topaloglu H; Korinthenberg R; Tüysüz B; Landrieu P; Hentati F; Koenig M
    Nat Genet; 2000 Nov; 26(3):370-4. PubMed ID: 11062483
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Giant axonal neuropathy.
    Vijaykumar K; Bindu PS; Taly AB; Mahadevan A; Bharath RD; Gayathri N; Nagappa M; Sinha S
    J Child Neurol; 2015 Jun; 30(7):912-5. PubMed ID: 25213662
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A New Mouse Model of Giant Axonal Neuropathy with Overt Phenotypes and Neurodegeneration Driven by Neurofilament Disorganization.
    Nath B; Julien JP
    J Neurosci; 2023 May; 43(22):4174-4189. PubMed ID: 37137704
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.
    Ashrafi MR; Dehnavi AZ; Tavasoli AR; Heidari M; Ghahvechi Akbari M; Ronagh AR; Ghafouri M; Mahdieh N; Mohammadi P; Rezaei Z
    Mol Genet Genomic Med; 2023 Jun; 11(6):e2159. PubMed ID: 36866531
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens.
    Armao D; Bouldin TW; Bailey RM; Hooper JE; Bharucha DX; Gray SJ
    Orphanet J Rare Dis; 2019 Feb; 14(1):27. PubMed ID: 30709364
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy.
    Wang L; Zhao D; Wang Z; Zhang W; Lv H; Liu X; Meng L; Yuan Y
    Muscle Nerve; 2014 Aug; 50(2):200-5. PubMed ID: 24273072
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinicogenetical features of a Japanese patient with giant axonal neuropathy.
    Akagi M; Mohri I; Iwatani Y; Kagitani-Shimono K; Okinaga T; Sakai N; Ozono K; Taniike M
    Brain Dev; 2012 Feb; 34(2):156-62. PubMed ID: 21356581
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Giant axonal disease: Report of eight cases.
    Incecik F; Herguner OM; Ceylaner S; Zorludemir S; Altunbasak S
    Brain Dev; 2015 Sep; 37(8):803-7. PubMed ID: 25533284
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
    Echaniz-Laguna A; Cuisset JM; Guyant-Marechal L; Aubourg P; Kremer L; Baaloul N; Verloes A; Beladgham K; Perrot J; Francou B; Latour P
    Neurogenetics; 2020 Jan; 21(1):29-37. PubMed ID: 31655922
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A mild case of giant axonal neuropathy without central nervous system manifestation.
    Koichihara R; Saito T; Ishiyama A; Komaki H; Yuasa S; Saito Y; Nakagawa E; Sugai K; Shiihara T; Shioya A; Saito Y; Higuchi Y; Hashiguchi A; Takashima H; Sasaki M
    Brain Dev; 2016 Mar; 38(3):350-3. PubMed ID: 26381321
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Giant axonal neuropathy caused by a novel compound heterozygous mutation in the gigaxonin gene.
    Xu M; Da YW; Liu L; Wang F; Jia JP
    J Child Neurol; 2013 Oct; 28(10):1316-9. PubMed ID: 23248352
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The mechanical properties of hydrated intermediate filaments: insights from hagfish slime threads.
    Fudge DS; Gardner KH; Forsyth VT; Riekel C; Gosline JM
    Biophys J; 2003 Sep; 85(3):2015-27. PubMed ID: 12944314
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.
    Israeli E; Dryanovski DI; Schumacker PT; Chandel NS; Singer JD; Julien JP; Goldman RD; Opal P
    Hum Mol Genet; 2016 Jun; 25(11):2143-2157. PubMed ID: 27000625
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: implications for gene therapy of human disease.
    Armao D; Bouldin TW; Bailey RM; Gray SJ
    Ophthalmic Genet; 2021 Oct; 42(5):600-603. PubMed ID: 33955818
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.