BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

498 related articles for article (PubMed ID: 15534759)

  • 1. The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel mutations of the TRKA gene.
    Ohto T; Iwasaki N; Fujiwara J; Ohkoshi N; Kimura S; Kawade K; Tanaka R; Matsui A
    Neuropediatrics; 2004 Oct; 35(5):274-8. PubMed ID: 15534759
    [TBL] [Abstract][Full Text] [Related]  

  • 2. No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V.
    Toscano E; Simonati A; Indo Y; Andria G
    Ann Neurol; 2002 Aug; 52(2):224-7. PubMed ID: 12210794
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.
    Verpoorten N; Claeys KG; Deprez L; Jacobs A; Van Gerwen V; Lagae L; Arts WF; De Meirleir L; Keymolen K; Ceuterick-de Groote C; De Jonghe P; Timmerman V; Nelis E
    Neuromuscul Disord; 2006 Jan; 16(1):19-25. PubMed ID: 16373086
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
    Indo Y
    Hum Mutat; 2001 Dec; 18(6):462-71. PubMed ID: 11748840
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.
    Houlden H; King RH; Hashemi-Nejad A; Wood NW; Mathias CJ; Reilly M; Thomas PK
    Ann Neurol; 2001 Apr; 49(4):521-5. PubMed ID: 11310631
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
    Huehne K; Zweier C; Raab K; Odent S; Bonnaure-Mallet M; Sixou JL; Landrieu P; Goizet C; Sarlangue J; Baumann M; Eggermann T; Rauch A; Ruppert S; Stettner GM; Rautenstrauss B
    Neuromuscul Disord; 2008 Feb; 18(2):159-66. PubMed ID: 18077166
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
    Indo Y; Mardy S; Miura Y; Moosa A; Ismail EA; Toscano E; Andria G; Pavone V; Brown DL; Brooks A; Endo F; Matsuda I
    Hum Mutat; 2001 Oct; 18(4):308-18. PubMed ID: 11668614
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies.
    Geraldes R; de Carvalho M; Santos-Bento M; Nicholson G
    J Neurol Sci; 2004 Dec; 227(1):35-8. PubMed ID: 15546589
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Nerve growth factor-tyrosine kinase A pathway is involved in thermoregulation and adaptation to stress: studies on patients with hereditary sensory and autonomic neuropathy type IV.
    Loewenthal N; Levy J; Schreiber R; Pinsk V; Perry Z; Shorer Z; Hershkovitz E
    Pediatr Res; 2005 Apr; 57(4):587-90. PubMed ID: 15695606
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
    Indo Y
    Clin Auton Res; 2002 May; 12 Suppl 1():I20-32. PubMed ID: 12102460
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.
    Bodzioch M; Lapicka K; Aslanidis C; Kacinski M; Schmitz G
    Hum Mutat; 2001; 17(1):72. PubMed ID: 11139246
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Atypical hereditary sensory and autonomic neuropathy type IV with neither mental retardation nor pain insensitivity.
    Jung CL; Ki CS; Kim BJ; Lee JH; Sung KS; Kim JW; Park YS
    J Child Neurol; 2013 Dec; 28(12):1668-72. PubMed ID: 23112235
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two brothers with a variant of hereditary sensory neuropathy.
    Pavone L; Huttenlocher P; Siciliano L; Micali G; Rizzo R; Anastasi M; Maimone D; Woolmann R
    Neuropediatrics; 1992 Apr; 23(2):92-5. PubMed ID: 1376446
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [A case of hereditary sensory autonomic neuropathy type II with late onset].
    Shimoya K; Ishimoto S; Ohnishi A; Yamamoto T
    Rinsho Shinkeigaku; 1999 May; 39(5):551-4. PubMed ID: 10424148
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital insensitivity to pain with anhidrosis in Taiwan: a morphometric and genetic study.
    Guo YC; Liao KK; Soong BW; Tsai CP; Niu DM; Lee HY; Lin KP
    Eur Neurol; 2004; 51(4):206-14. PubMed ID: 15159601
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome].
    Raspall-Chaure M; Del Toro-Riera M; Gratacós M; Cuenca-León E; Ferrer I; Indo Y; Roig-Quilis M; Macaya-Ruiz A
    Rev Neurol; 2005 Aug 16-31; 41(4):218-22. PubMed ID: 16075400
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
    Altassan R; Saud HA; Masoodi TA; Dosssari HA; Khalifa O; Al-Zaidan H; Sakati N; Rhabeeni Z; Al-Hassnan Z; Binamer Y; Alhashemi N; Wade W; Al-Zayed Z; Al-Sayed M; Al-Muhaizea MA; Meyer B; Al-Owain M; Wakil SM
    Am J Med Genet A; 2017 Apr; 173(4):1009-1016. PubMed ID: 28328124
    [TBL] [Abstract][Full Text] [Related]  

  • 18. From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V.
    Capsoni S
    Eur J Neurosci; 2014 Feb; 39(3):392-400. PubMed ID: 24494679
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Hereditary sensory and autonomic neuropathies. The neurophysiological and pathological aspects of two cases with congenital insensitivity to pain].
    Esteban-García A; Salinero-Paniagua E; Traba A; Prieto-Montalvo J; Polo-Arrondo AP; Godes-Medrano B; Fernández-Lorente J
    Rev Neurol; 2004 Sep 16-30; 39(6):525-9. PubMed ID: 15467989
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Inherited autonomic neuropathies.
    Axelrod FB; Hilz MJ
    Semin Neurol; 2003 Dec; 23(4):381-90. PubMed ID: 15088259
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.