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156 related items for PubMed ID: 18957892

  • 1. Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations.
    Vallat JM, Ouvrier RA, Pollard JD, Magdelaine C, Zhu D, Nicholson GA, Grew S, Ryan MM, Funalot B.
    J Neuropathol Exp Neurol; 2008 Nov; 67(11):1097-102. PubMed ID: 18957892
    [Abstract] [Full Text] [Related]

  • 2. [Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations].
    Funalot B, Magdelaine C, Sturtz F, Ouvrier R, Vallat JM.
    Bull Acad Natl Med; 2009 Jan; 193(1):151-60; discussion 160-1. PubMed ID: 19718987
    [Abstract] [Full Text] [Related]

  • 3. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
    [Abstract] [Full Text] [Related]

  • 4. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
    Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, Suh JS, Hwang JH, Kim WK, Seo BC, Kim SH, Son IH, Kim SM, Sunwoo IN, Choi BO.
    Brain; 2006 Aug; 129(Pt 8):2103-18. PubMed ID: 16835246
    [Abstract] [Full Text] [Related]

  • 5. Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: confirmation of a new entity.
    Sabatelli M, Mignogna T, Lippi G, Servidei S, Zollino M, Padua L, Lo Monaco M, De Armas L, Mereu ML, Tonali P.
    Am J Med Genet; 1998 Jan 23; 75(3):309-13. PubMed ID: 9475604
    [Abstract] [Full Text] [Related]

  • 6. Sensory nerve pathology in multifocal motor neuropathy.
    Corse AM, Chaudhry V, Crawford TO, Cornblath DR, Kuncl RW, Griffin JW.
    Ann Neurol; 1996 Mar 23; 39(3):319-25. PubMed ID: 8602750
    [Abstract] [Full Text] [Related]

  • 7. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.
    Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M, Surtees R.
    Brain; 2003 Dec 23; 126(Pt 12):2682-92. PubMed ID: 14506069
    [Abstract] [Full Text] [Related]

  • 8. The giant axonal neuropathy--clinical and hisotological aspects, differential diagnosis and a new case.
    Nafe R, Trollmann R, Schlote W.
    Clin Neuropathol; 2001 Dec 23; 20(5):200-11. PubMed ID: 11594505
    [Abstract] [Full Text] [Related]

  • 9. 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 23; 66(12):1511-6. PubMed ID: 20008656
    [Abstract] [Full Text] [Related]

  • 10. Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis.
    Malandrini A, Gambelli S, Muglia M, Berti G, Gaudiano C, Patitucci A, Sugie K, Umehara F, Quattrone A, Dotti MT, Federico A.
    Brain Dev; 2008 Apr 23; 30(4):291-4. PubMed ID: 17768021
    [Abstract] [Full Text] [Related]

  • 11. [Hereditary motor and sensory neuropathy].
    Guo YP.
    Zhonghua Shen Jing Jing Shen Ke Za Zhi; 1992 Oct 23; 25(5):261-3, 315. PubMed ID: 1291244
    [Abstract] [Full Text] [Related]

  • 12. Nerve and muscle biopsy in a case of hereditary motor and sensory neuropathy type III with basal lamina onion bulbs.
    Bornemann A, Hansen FJ, Schmalbruch H.
    Neuropathol Appl Neurobiol; 1996 Feb 23; 22(1):77-81. PubMed ID: 8866786
    [Abstract] [Full Text] [Related]

  • 13. Pathology and pathogenesis of sensory neuropathy in Friedreich's ataxia.
    Morral JA, Davis AN, Qian J, Gelman BB, Koeppen AH.
    Acta Neuropathol; 2010 Jul 23; 120(1):97-108. PubMed ID: 20339857
    [Abstract] [Full Text] [Related]

  • 14. Phenotypic clustering in MPZ mutations.
    Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J.
    Brain; 2004 Feb 23; 127(Pt 2):371-84. PubMed ID: 14711881
    [Abstract] [Full Text] [Related]

  • 15. Giant axonal neuropathy in two siblings: clinical histopathological findings.
    Hergüner MO, Zorludemir S, Altunbasak S.
    Clin Neuropathol; 2005 Feb 23; 24(1):48-50. PubMed ID: 15696785
    [Abstract] [Full Text] [Related]

  • 16. Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity.
    Balestrini MR, Cavaletti G, D'Angelo A, Tredici G.
    Neuropediatrics; 1991 May 23; 22(2):65-70. PubMed ID: 1857496
    [Abstract] [Full Text] [Related]

  • 17. Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.
    Marques W, Neto JM, Barreira AA.
    Acta Neurol Scand; 2004 Sep 23; 110(3):196-9. PubMed ID: 15285778
    [Abstract] [Full Text] [Related]

  • 18. Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.
    Yiu EM, Ryan MM.
    J Peripher Nerv Syst; 2012 Sep 23; 17(3):285-300. PubMed ID: 22971091
    [Abstract] [Full Text] [Related]

  • 19. Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria.
    Klein CJ, Kimmel GW, Pittock SJ, Engelstad JE, Cunningham JM, Wu Y, Dyck PJ.
    Arch Neurol; 2011 Oct 23; 68(10):1295-302. PubMed ID: 21987543
    [Abstract] [Full Text] [Related]

  • 20. Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults.
    Ouvrier R, Grew S.
    Dev Med Child Neurol; 2010 Apr 23; 52(4):328-30. PubMed ID: 20163430
    [Abstract] [Full Text] [Related]

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