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236 related items for PubMed ID: 11048747

  • 1. Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood?
    Mahadevan A, Santosh V, Gayatri N, Ratnavalli E, NandaGopal R, Vasanth A, Roy AK, Shankar SK.
    Clin Neuropathol; 2000; 19(5):221-9. PubMed ID: 11048747
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 3. Infantile neuroaxonal dystrophy and giant axonal neuropathy: are they related?
    Begeer JH, Houthoff HJ, van Weerden TW, de Groot CJ, Blaauw EH, le Coultre R.
    Ann Neurol; 1979 Dec; 6(6):540-8. PubMed ID: 575280
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  • 4. The giant axonal neuropathy--clinical and hisotological aspects, differential diagnosis and a new case.
    Nafe R, Trollmann R, Schlote W.
    Clin Neuropathol; 2001 Dec; 20(5):200-11. PubMed ID: 11594505
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  • 5. Neuroaxonal dystrophy with dystonia and pallidal involvement.
    Simonati A, Trevisan C, Salviati A, Rizzuto N.
    Neuropediatrics; 1999 Jun; 30(3):151-4. PubMed ID: 10480212
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  • 6. Dysmorphic face in two siblings with infantile neuroaxonal dystrophy.
    Seven M, Ozkiliç A, Yüksel A.
    Genet Couns; 2002 Jun; 13(4):465-73. PubMed ID: 12558119
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  • 7. [Infantile neuroaxonal dystrophy. A report of two new cases and a review of the literature published over the past ten years].
    Rodríguez-Costa T, Cabello A, Recuero-Fernández E, Casas-Fernández C, Puche-Mira A, Domingo-Jiménez R, Ricoy JR.
    Rev Neurol; 2002 Jun; 33(5):443-7. PubMed ID: 11727213
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  • 8. [An intermediate, generalized form of neuroaxonal dystrophy--light- and electron microscopic findings].
    Lehmann J, Goebel HH.
    Acta Histochem Suppl; 1992 Jun; 42():311-8. PubMed ID: 1584981
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Congenital giant axonal neuropathy.
    Kinney RB, Gottfried MR, Hodson AK, Autilio-Gambetti L, Graham DG.
    Arch Pathol Lab Med; 1985 Jul; 109(7):639-41. PubMed ID: 2990373
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  • 13. [Mixed hypotonia, neurological regression and atrophy of the cerebellum: manifestations that suggest infantile neuroaxonal dystrophy].
    Blanco-Barca MO, Eiris-Puñal J, Peña-Guitian J, Fernández-Bustillo JM, Pintos-Martínez E, Castro-Gago M.
    Rev Neurol; 1985 Jul; 37(1):25-8. PubMed ID: 12861504
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  • 14. Pathology of skeletal muscle and intramuscular nerves in infantile neuroaxonal dystrophy.
    Miike T, Ohtani Y, Nishiyama S, Matsuda I.
    Acta Neuropathol; 1986 Jul; 69(1-2):117-23. PubMed ID: 3962588
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  • 15. Abnormalities of the axonal cytoskeleton in giant axonal neuropathy.
    Donaghy M, King RH, Thomas PK, Workman JM.
    J Neurocytol; 1988 Apr; 17(2):197-208. PubMed ID: 3204412
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  • 16. 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
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  • 17. Diagnostic difficulties in infantile neuroaxonal dystrophy. A clinicopathological study of eight cases.
    Ramaekers VT, Lake BD, Harding B, Boyd S, Harden A, Brett EM, Wilson J.
    Neuropediatrics; 1987 Aug; 18(3):170-5. PubMed ID: 3683759
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  • 19. A case of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments.
    Mohri I, Taniike M, Yoshikawa H, Higashiyama M, Itami S, Okada S.
    Brain Dev; 1998 Dec; 20(8):594-7. PubMed ID: 9865543
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