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Journal Abstract Search

170 related items for PubMed ID: 22987707

  • 21. Neurophysiology and molecular genetics of Charcot-Marie-Tooth type 1 neuropathy in Croatian children: follow-up study.
    Barisić N, Mihatov I.
    Croat Med J; 2000 Sep; 41(3):306-13. PubMed ID: 10962051
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  • 22. 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
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  • 24. A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.
    Luigetti M, Fabrizi GM, Madia F, Ferrarini M, Conte A, Del Grande A, Tasca G, Tonali PA, Sabatelli M.
    J Neurol Sci; 2010 Nov 15; 298(1-2):114-7. PubMed ID: 20870250
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  • 25. Insights into phenotypic variability caused by GARS1 pathogenic variants.
    Jiménez-Jiménez J, Navarrete I, Azorín I, Martí P, Vílchez R, Muelas N, Cabello-Murgui J, Millet E, Vázquez-Costa JF, Vílchez JJ, Sevilla T, Sivera R.
    Eur J Neurol; 2024 Oct 15; 31(10):e16416. PubMed ID: 39051710
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  • 28. Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A).
    Posa A, Emmer A, Kornhuber ME.
    Clin Neurol Neurosurg; 2017 Apr 15; 155():20-21. PubMed ID: 28214652
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  • 29. Central motor and sensory pathway involvement in an X-linked Charcot-Marie-Tooth family.
    Zambelis T, Panas M, Kokotis P, Karadima G, Kararizou E, Karandreas N.
    Acta Neurol Belg; 2008 Jun 15; 108(2):44-7. PubMed ID: 18795595
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  • 30. Reliability and validity of the CMT neuropathy score as a measure of disability.
    Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J, Lewis RA, Reilly M.
    Neurology; 2005 Apr 12; 64(7):1209-14. PubMed ID: 15824348
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  • 34. 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 12; 66(12):1511-6. PubMed ID: 20008656
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  • 36. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
    Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V.
    Brain; 2006 Aug 12; 129(Pt 8):2093-102. PubMed ID: 16714318
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  • 37. [Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].
    Takashima H.
    Rinsho Shinkeigaku; 2014 Aug 12; 54(12):957-9. PubMed ID: 25672680
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  • 38. [Charcot-Marie-Tooth: a family case report].
    García de la Rocha ML, Moreno Martínez JM, Martín Araguz A.
    An Med Interna; 1990 May 12; 7(5):255-7. PubMed ID: 2102722
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  • 40. [The clinical and pathologic features of Charcot-Marie-Tooth disease].
    Xiao B, Xie J, Yang X, Wu Z, Xiao J, Li J.
    Zhonghua Nei Ke Za Zhi; 2002 Nov 12; 41(11):736-8. PubMed ID: 12485517
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