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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

238 related items for PubMed ID: 31069783

  • 1.
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  • 2. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
    Tsai PC, Soong BW, Mademan I, Huang YH, Liu CR, Hsiao CT, Wu HT, Liu TT, Liu YT, Tseng YT, Lin KP, Yang UC, Chung KW, Choi BO, Nicholson GA, Kennerson ML, Chan CC, De Jonghe P, Cheng TH, Liao YC, Züchner S, Baets J, Lee YC.
    Brain; 2017 May 01; 140(5):1252-1266. PubMed ID: 28369220
    [Abstract] [Full Text] [Related]

  • 3. [Clinical, pathological and genetic characteristics of 8 patients with distal hereditary motor neuropathy].
    Liu MG, Fang P, Wang Y, Cong L, Fan YY, Yuan Y, Xu Y, Zhang J, Hong DJ.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2021 Oct 18; 53(5):957-963. PubMed ID: 34650302
    [Abstract] [Full Text] [Related]

  • 4. Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.
    Solla P, Vannelli A, Bolino A, Marrosu G, Coviello S, Murru MR, Tranquilli S, Corongiu D, Benedetti S, Marrosu MG.
    J Neurol Neurosurg Psychiatry; 2010 Sep 18; 81(9):958-62. PubMed ID: 20660910
    [Abstract] [Full Text] [Related]

  • 5. Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.
    Luigetti M, Fabrizi GM, Bisogni G, Romano A, Taioli F, Ferrarini M, Bernardo D, Rossini PM, Sabatelli M.
    Clin Neurol Neurosurg; 2016 May 18; 144():67-71. PubMed ID: 26989944
    [Abstract] [Full Text] [Related]

  • 6. A novel mutation in SORD gene associated with distal hereditary motor neuropathies.
    Yuan X, Zhang S, Shang H, Tang Y.
    BMC Med Genomics; 2024 Jun 24; 17(1):169. PubMed ID: 38915017
    [Abstract] [Full Text] [Related]

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  • 8. Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy.
    Zhao Z, Hashiguchi A, Hu J, Sakiyama Y, Okamoto Y, Tokunaga S, Zhu L, Shen H, Takashima H.
    Neurology; 2012 May 22; 78(21):1644-9. PubMed ID: 22573628
    [Abstract] [Full Text] [Related]

  • 9. Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
    Liu X, Duan X, Zhang Y, Sun A, Fan D.
    Eur J Neurol; 2020 Jul 22; 27(7):1319-1326. PubMed ID: 32298515
    [Abstract] [Full Text] [Related]

  • 10. Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy.
    Hong D, Fang P, Yao S, Chen J, Zhang X, Chen S, Zhang J, Tan D, Wang L, Han X, Xin L, Wang Y, Liu M, Cong L, Zhong S, Ouyang H, Gao X, Zhang J.
    Ann Clin Transl Neurol; 2019 Sep 22; 6(9):1728-1738. PubMed ID: 31429185
    [Abstract] [Full Text] [Related]

  • 11.
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  • 12. Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.
    Lupo V, Frasquet M, Sánchez-Monteagudo A, Pelayo-Negro AL, García-Sobrino T, Sedano MJ, Pardo J, Misiego M, García-García J, Sobrido MJ, Martínez-Rubio MD, Chumillas MJ, Vílchez JJ, Vázquez-Costa JF, Espinós C, Sevilla T.
    J Med Genet; 2018 Dec 22; 55(12):814-823. PubMed ID: 30415211
    [Abstract] [Full Text] [Related]

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  • 14. HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
    Capponi S, Geroldi A, Fossa P, Grandis M, Ciotti P, Gulli R, Schenone A, Mandich P, Bellone E.
    J Peripher Nerv Syst; 2011 Dec 22; 16(4):287-94. PubMed ID: 22176143
    [Abstract] [Full Text] [Related]

  • 15. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
    Rohkamm B, Reilly MM, Lochmüller H, Schlotter-Weigel B, Barisic N, Schöls L, Nicholson G, Pareyson D, Laurà M, Janecke AR, Miltenberger-Miltenyi G, John E, Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M.
    J Neurol Sci; 2007 Dec 15; 263(1-2):100-6. PubMed ID: 17663003
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  • 16.
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  • 17. HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
    Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schöneborn S, Röhr D, Halfter H, Young P, Senderek J.
    Neurology; 2014 Nov 04; 83(19):1726-32. PubMed ID: 25274842
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  • 18.
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  • 19. A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.
    Zhang B, Gang Q, Meng L, Li Z, Chu X, Wu H, Yang J, Huang B, Du K.
    BMC Med Genomics; 2024 Sep 04; 17(1):223. PubMed ID: 39232784
    [Abstract] [Full Text] [Related]

  • 20. Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.
    Zhao H, Race V, Matthijs G, De Jonghe P, Robberecht W, Lambrechts D, Van Damme P.
    Eur J Hum Genet; 2014 Jun 04; 22(6):847-50. PubMed ID: 24105373
    [Abstract] [Full Text] [Related]

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