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A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
Habib AM, Matsuyama A, Okorokov AL, Santana-Varela S, Bras JT, Aloisi AM, Emery EC, Bogdanov YD, Follenfant M, Gossage SJ, Gras M, Humphrey J, Kolesnikov A, Le Cann K, Li S, Minett MS, Pereira V, Ponsolles C, Sikandar S, Torres JM, Yamaoka K, Zhao J, Komine Y, Yamamori T, Maniatis N, Panov KI, Houlden H, Ramirez JD, Bennett DLH, Marsili L, Bachiocco V, Wood JN, Cox JJ. Habib AM, et al. Among authors: ramirez jd. Brain. 2018 Feb 1;141(2):365-376. doi: 10.1093/brain/awx326. Brain. 2018. PMID: 29253101 Free PMC article.
Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity.
Habib AM, Okorokov AL, Hill MN, Bras JT, Lee MC, Li S, Gossage SJ, van Drimmelen M, Morena M, Houlden H, Ramirez JD, Bennett DLH, Srivastava D, Cox JJ. Habib AM, et al. Among authors: ramirez jd. Br J Anaesth. 2019 Aug;123(2):e249-e253. doi: 10.1016/j.bja.2019.02.019. Epub 2019 Mar 28. Br J Anaesth. 2019. PMID: 30929760 Free PMC article.
Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia.
Cregg R, Laguda B, Werdehausen R, Cox JJ, Linley JE, Ramirez JD, Bodi I, Markiewicz M, Howell KJ, Chen YC, Agnew K, Houlden H, Lunn MP, Bennett DL, Wood JN, Kinali M. Cregg R, et al. Among authors: ramirez jd. Neuromolecular Med. 2013 Jun;15(2):265-78. doi: 10.1007/s12017-012-8216-8. Epub 2013 Jan 6. Neuromolecular Med. 2013. PMID: 23292638 Free PMC article.
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.
Kremeyer B, Lopera F, Cox JJ, Momin A, Rugiero F, Marsh S, Woods CG, Jones NG, Paterson KJ, Fricker FR, Villegas A, Acosta N, Pineda-Trujillo NG, Ramírez JD, Zea J, Burley MW, Bedoya G, Bennett DL, Wood JN, Ruiz-Linares A. Kremeyer B, et al. Among authors: ramirez jd. Neuron. 2010 Jun 10;66(5):671-80. doi: 10.1016/j.neuron.2010.04.030. Neuron. 2010. PMID: 20547126 Free PMC article.
Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy.
Blesneac I, Themistocleous AC, Fratter C, Conrad LJ, Ramirez JD, Cox JJ, Tesfaye S, Shillo PR, Rice ASC, Tucker SJ, Bennett DLH. Blesneac I, et al. Among authors: ramirez jd. Pain. 2018 Mar;159(3):469-480. doi: 10.1097/j.pain.0000000000001116. Pain. 2018. PMID: 29176367 Free PMC article.
A fovea for pain at the fingertips.
Mancini F, Sambo CF, Ramirez JD, Bennett DL, Haggard P, Iannetti GD. Mancini F, et al. Among authors: ramirez jd. Curr Biol. 2013 Mar 18;23(6):496-500. doi: 10.1016/j.cub.2013.02.008. Epub 2013 Mar 7. Curr Biol. 2013. PMID: 23477726 Free PMC article.
293 results