BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 22302274)

  • 1. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
    Davidson G; Murphy S; Polke J; Laura M; Salih M; Muntoni F; Blake J; Brandner S; Davies N; Horvath R; Price S; Donaghy M; Roberts M; Foulds N; Ramdharry G; Soler D; Lunn M; Manji H; Davis M; Houlden H; Reilly M
    J Neurol; 2012 Aug; 259(8):1673-85. PubMed ID: 22302274
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
    Rotthier A; Baets J; De Vriendt E; Jacobs A; Auer-Grumbach M; Lévy N; Bonello-Palot N; Kilic SS; Weis J; Nascimento A; Swinkels M; Kruyt MC; Jordanova A; De Jonghe P; Timmerman V
    Brain; 2009 Oct; 132(Pt 10):2699-711. PubMed ID: 19651702
    [TBL] [Abstract][Full Text] [Related]  

  • 3. SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies.
    Klein CJ; Wu Y; Kruckeberg KE; Hebbring SJ; Anderson SA; Cunningham JM; Dyck PJ; Klein DM; Thibodeau SN; Dyck PJ
    J Neurol Neurosurg Psychiatry; 2005 Jul; 76(7):1022-4. PubMed ID: 15965219
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
    Houlden H; King R; Blake J; Groves M; Love S; Woodward C; Hammans S; Nicoll J; Lennox G; O'Donovan DG; Gabriel C; Thomas PK; Reilly MM
    Brain; 2006 Feb; 129(Pt 2):411-25. PubMed ID: 16364956
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
    Suh BC; Hong YB; Nakhro K; Nam SH; Chung KW; Choi BO
    Mol Med Rep; 2014 Feb; 9(2):481-6. PubMed ID: 24247255
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.
    Bi H; Gao Y; Yao S; Dong M; Headley AP; Yuan Y
    Neuropathology; 2007 Oct; 27(5):429-33. PubMed ID: 18018475
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.
    Hornemann T; Penno A; Richard S; Nicholson G; van Dijk FS; Rotthier A; Timmerman V; von Eckardstein A
    Neurogenetics; 2009 Apr; 10(2):135-43. PubMed ID: 19132419
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
    Rotthier A; Auer-Grumbach M; Janssens K; Baets J; Penno A; Almeida-Souza L; Van Hoof K; Jacobs A; De Vriendt E; Schlotter-Weigel B; Löscher W; Vondráček P; Seeman P; De Jonghe P; Van Dijck P; Jordanova A; Hornemann T; Timmerman V
    Am J Hum Genet; 2010 Oct; 87(4):513-22. PubMed ID: 20920666
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
    Rotthier A; Penno A; Rautenstrauss B; Auer-Grumbach M; Stettner GM; Asselbergh B; Van Hoof K; Sticht H; Lévy N; Timmerman V; Hornemann T; Janssens K
    Hum Mutat; 2011 Jun; 32(6):E2211-25. PubMed ID: 21618344
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Spectrum of SPTLC1-related disorders: a novel case of 'Ser331 syndrome' that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases.
    Lorenzoni PJ; Bayer DL; Ducci RD; Fustes OJH; do Vale Pascoal Rodrigues PR; Werneck LC; Kay CSK; Scola RH
    Neurol Sci; 2023 Jul; 44(7):2551-2554. PubMed ID: 36964315
    [TBL] [Abstract][Full Text] [Related]  

  • 11. WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study.
    Yuan JH; Hashiguchi A; Yoshimura A; Sakai N; Takahashi MP; Ueda T; Taniguchi A; Okamoto S; Kanazawa N; Yamamoto Y; Saigoh K; Kusunoki S; Ando M; Hiramatsu Y; Okamoto Y; Takashima H
    Clin Genet; 2017 Dec; 92(6):659-663. PubMed ID: 28422281
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct "S331 syndrome".
    Rossi F; Bruno G; Fratta M; Colavito D; Casertano S; Sampaolo S; Oliva M; Puoti G
    J Peripher Nerv Syst; 2020 Sep; 25(3):308-311. PubMed ID: 32470188
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA.
    Wang JJ; Yu B; Li Z
    BMC Med Genet; 2019 May; 20(1):91. PubMed ID: 31132985
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias.
    Triplett J; Nicholson G; Sue C; Hornemann T; Yiannikas C
    J Peripher Nerv Syst; 2019 Jun; 24(2):224-229. PubMed ID: 30866134
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hereditary sensory neuropathy type I.
    Auer-Grumbach M
    Orphanet J Rare Dis; 2008 Mar; 3():7. PubMed ID: 18348718
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].
    Takashima H
    Rinsho Shinkeigaku; 2014; 54(12):957-9. PubMed ID: 25672680
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
    Shaikh SS; Chen YC; Halsall SA; Nahorski MS; Omoto K; Young GT; Phelan A; Woods CG
    Hum Mutat; 2017 Jan; 38(1):55-63. PubMed ID: 27676246
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.
    Falcão de Campos C; Vidailhet M; Toutain A; de Becdelièvre A; Funalot B; Bonello-Palot N; Stojkovic T
    J Peripher Nerv Syst; 2019 Dec; 24(4):354-358. PubMed ID: 31596031
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hereditary sensory neuropathies.
    Auer-Grumbach M
    Drugs Today (Barc); 2004 May; 40(5):385-94. PubMed ID: 15319794
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.