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Journal Abstract Search

181 related items for PubMed ID: 10774995

  • 1. Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder.
    Toscano E, della Casa R, Mardy S, Gaetaniello L, Sadile F, Indo Y, Pignata C, Andria G.
    Neuropediatrics; 2000 Feb; 31(1):39-41. PubMed ID: 10774995
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  • 2. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
    Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.
    Nat Genet; 1996 Aug; 13(4):485-8. PubMed ID: 8696348
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  • 3. [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; 1996 Aug; 41(4):218-22. PubMed ID: 16075400
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  • 4. A rare case of congenital insensitivity to pain with anhidrosis.
    Sreenivasan V, Karunakar P, Madhileti S, Govindaswamy Ramamoorthy J, Gulati R.
    Paediatr Int Child Health; 2024 Aug; 44(2):59-62. PubMed ID: 38659257
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  • 5. Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV).
    Rosemberg S, Marie SK, Kliemann S.
    Pediatr Neurol; 1994 Jul; 11(1):50-6. PubMed ID: 7527213
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  • 8. Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene.
    Xue XM, Liu YQ, Pang P, Sun CF.
    J Oral Maxillofac Surg; 2018 Dec; 76(12):2582.e1-2582.e9. PubMed ID: 30075136
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  • 10. Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux.
    Franco ML, Melero C, Sarasola E, Acebo P, Luque A, Calatayud-Baselga I, García-Barcina M, Vilar M.
    J Biol Chem; 2016 Oct 07; 291(41):21363-21374. PubMed ID: 27551041
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  • 11. 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 07; 12 Suppl 1():I20-32. PubMed ID: 12102460
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  • 12. [Progress in the diagnosis and treatment of Congenital insensitivity to pain with anhidrosis].
    Gu J, Liu Z, Shi Y, Gu J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Sep 10; 41(9):1139-1143. PubMed ID: 39217496
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  • 13. Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.
    Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.
    Am J Med Genet; 2000 Jun 19; 92(5):353-60. PubMed ID: 10861667
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  • 15. Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
    Cho JH, Hwang S, Kwak YH, Yum MS, Seo GH, Koh JY, Ju YS, Yoon JH, Kang M, Do HS, Kim S, Kim GH, Bae H, Lee BH.
    Mol Genet Genomic Med; 2024 Apr 19; 12(4):e2430. PubMed ID: 38581121
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  • 16. NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
    Echaniz-Laguna A, Altuzarra C, Verloes A, De La Banda MGG, Quijano-Roy S, Tudorache RA, Jaxybayeva A, Myrzaliyeva B, Tazir M, Vallat JM, Francou B, Urtizberea JA.
    Neurogenetics; 2021 Oct 19; 22(4):333-341. PubMed ID: 34405299
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  • 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 19; 173(4):1009-1016. PubMed ID: 28328124
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  • 18. Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type 1/nerve growth factor receptor mutations.
    Miranda C, Di Virgilio M, Selleri S, Zanotti G, Pagliardini S, Pierotti MA, Greco A.
    J Biol Chem; 2002 Feb 22; 277(8):6455-62. PubMed ID: 11719521
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