BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

316 related articles for article (PubMed ID: 28369220)

  • 21. Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.
    Lee HJ; Park J; Nakhro K; Park JM; Hur YM; Choi BO; Chung KW
    J Peripher Nerv Syst; 2012 Dec; 17(4):418-21. PubMed ID: 23279345
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
    Klein CJ; Middha S; Duan X; Wu Y; Litchy WJ; Gu W; Dyck PJ; Gavrilova RH; Smith DI; Kocher JP; Dyck PJ
    J Neurol Neurosurg Psychiatry; 2014 Nov; 85(11):1265-72. PubMed ID: 24604904
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Assignment of the human tryptophanyl-tRNA synthetase gene (WARS) to chromosome 14q32.2 --> q32.32.
    Børglum AD; Flint T; Tommerup N; Fleckner J; Justesen J; Kruse TA
    Cytogenet Cell Genet; 1996; 73(1-2):99-103. PubMed ID: 8646895
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel
    Feng SY; Li LY; Feng SM; Zou ZY
    Ann Clin Transl Neurol; 2019 Feb; 6(2):401-405. PubMed ID: 30847374
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
    Evgrafov OV; Mersiyanova I; Irobi J; Van Den Bosch L; Dierick I; Leung CL; Schagina O; Verpoorten N; Van Impe K; Fedotov V; Dadali E; Auer-Grumbach M; Windpassinger C; Wagner K; Mitrovic Z; Hilton-Jones D; Talbot K; Martin JJ; Vasserman N; Tverskaya S; Polyakov A; Liem RK; Gettemans J; Robberecht W; De Jonghe P; Timmerman V
    Nat Genet; 2004 Jun; 36(6):602-6. PubMed ID: 15122254
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.
    Chance PF
    Neuromolecular Med; 2006; 8(1-2):159-74. PubMed ID: 16775374
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy.
    Shi J; Zhao F; Pang X; Huang S; Wang J; Chang X; Zhang J; Liu Y; Guo J; Zhang W
    Neuromuscul Disord; 2021 Feb; 31(2):149-157. PubMed ID: 33323309
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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; 78(21):1644-9. PubMed ID: 22573628
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.
    Iyadurai S; Arnold WD; Kissel JT; Ruhno C; Mcgovern VL; Snyder PJ; Prior TW; Roggenbuck J; Burghes AH; Kolb SJ
    Muscle Nerve; 2017 Aug; 56(2):341-345. PubMed ID: 27875632
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.
    Ma MT; Chen DH; Raskind WH; Bird TD
    Neuromuscul Disord; 2020 Jul; 30(7):572-575. PubMed ID: 32600828
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Distal hereditary motor neuropathy type II with mutation in heat shock protein 27 gene. A case report].
    Nishibayashi M; Kokubun N; Nakamura A; Hirata K; Yamamoto M; Sobue G
    Rinsho Shinkeigaku; 2007 Jan; 47(1):50-2. PubMed ID: 17491338
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a mutation in TFG].
    Ishiura H; Tsuji S
    Rinsho Shinkeigaku; 2013; 23(11):1203-5. PubMed ID: 24291930
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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; 81(9):958-62. PubMed ID: 20660910
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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; 91(1):139-45. PubMed ID: 22703882
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.
    Tétreault M; Gonzalez M; Dicaire MJ; Allard P; Gehring K; Leblanc D; Leclerc N; Schondorf R; Mathieu J; Zuchner S; Brais B
    Brain; 2015 Jun; 138(Pt 6):1477-83. PubMed ID: 25818867
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Human tryptophanyl-tRNA synthetase binds with heme to enhance its aminoacylation activity.
    Wakasugi K
    Biochemistry; 2007 Oct; 46(40):11291-8. PubMed ID: 17877375
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
    Lin SJ; Vona B; Porter HM; Izadi M; Huang K; Lacassie Y; Rosenfeld JA; Khan S; Petree C; Ali TA; Muhammad N; Khan SA; Muhammad N; Liu P; Haymon ML; Rüschendorf F; Kong IK; Schnapp L; Shur N; Chorich L; Layman L; Haaf T; Pourkarimi E; Kim HG; Varshney GK
    Hum Mutat; 2022 Oct; 43(10):1472-1489. PubMed ID: 35815345
    [TBL] [Abstract][Full Text] [Related]  

  • 38.
    Almendra L; Laranjeira F; Fernández-Marmiesse A; Negrão L
    Acta Myol; 2018 May; 37(1):2-4. PubMed ID: 30079398
    [No Abstract]   [Full Text] [Related]  

  • 39. The distal hereditary motor neuropathies.
    Rossor AM; Kalmar B; Greensmith L; Reilly MM
    J Neurol Neurosurg Psychiatry; 2012 Jan; 83(1):6-14. PubMed ID: 22028385
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Tryptamine-induced tryptophanyl-tRNAtrp deficiency in neurodifferentiation and neurodegeneration interplay: progenitor activation with neurite growth terminated in Alzheimer's disease neuronal vesicularization and fragmentation.
    Paley EL
    J Alzheimers Dis; 2011; 26(2):263-98. PubMed ID: 21628792
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.