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Journal Abstract Search

153 related items for PubMed ID: 30503856

  • 1. TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy.
    Miura S, Kosaka K, Nomura T, Nagata S, Shimojo T, Morikawa T, Fujioka R, Harada M, Taniwaki T, Shibata H.
    Eur J Med Genet; 2019 Dec; 62(12):103594. PubMed ID: 30503856
    [Abstract] [Full Text] [Related]

  • 2. [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]

  • 3. A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy.
    Miura S, Morikawa T, Fujioka R, Noda K, Kosaka K, Taniwaki T, Shibata H.
    Eur J Med Genet; 2017 Sep 18; 60(9):474-478. PubMed ID: 28642160
    [Abstract] [Full Text] [Related]

  • 4. A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family.
    Wang B, Li X, Huang S, Zhao H, Liu J, Hu Z, Lin Z, Liu L, Xie Y, Jin Q, Zhao H, Tang B, Niu Q, Zhang R.
    Clin Genet; 2019 Aug 18; 96(2):176-182. PubMed ID: 31069783
    [Abstract] [Full Text] [Related]

  • 5. 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 18; 27(7):1319-1326. PubMed ID: 32298515
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.
    Blumen SC, Astord S, Robin V, Vignaud L, Toumi N, Cieslik A, Achiron A, Carasso RL, Gurevich M, Braverman I, Blumen N, Munich A, Barkats M, Viollet L.
    Ann Neurol; 2012 Apr 04; 71(4):509-19. PubMed ID: 22522442
    [Abstract] [Full Text] [Related]

  • 9. 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 04; 6(9):1728-1738. PubMed ID: 31429185
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 24; 22(6):847-50. PubMed ID: 24105373
    [Abstract] [Full Text] [Related]

  • 12. Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation.
    Chung KW, Kim SB, Cho SY, Hwang SJ, Park SW, Kang SH, Kim J, Yoo JH, Choi BO.
    Exp Mol Med; 2008 Jun 30; 40(3):304-12. PubMed ID: 18587268
    [Abstract] [Full Text] [Related]

  • 13. X-linked dominant hereditary motor and sensory neuropathy.
    Hahn AF, Brown WF, Koopman WJ, Feasby TE.
    Brain; 1990 Oct 30; 113 ( Pt 5)():1511-25. PubMed ID: 2245309
    [Abstract] [Full Text] [Related]

  • 14. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
    Beetz C, Pieber TR, Hertel N, Schabhüttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M.
    Am J Hum Genet; 2012 Jul 13; 91(1):139-45. PubMed ID: 22703882
    [Abstract] [Full Text] [Related]

  • 15. Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2.
    Chen B, Zheng R, Luan X, Zhang W, Wang Z, Yuan Y.
    Neuropathology; 2009 Oct 13; 29(5):543-7. PubMed ID: 19323790
    [Abstract] [Full Text] [Related]

  • 16. Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.
    Ververis A, Dajani R, Koutsou P, Aloqaily A, Nelson-Williams C, Loring E, Arafat A, Mubaidin AF, Horany K, Bader MB, Al-Baho Y, Ali B, Muhtaseb A, DeSpenza T, Al-Qudah AA, Middleton LT, Zamba-Papanicolaou E, Lifton R, Christodoulou K.
    J Med Genet; 2020 Mar 13; 57(3):178-186. PubMed ID: 31511340
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