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Items: 1 to 20 of 127

1.

A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.

Einarsdottir E, Carlsson A, Minde J, Toolanen G, Svensson O, Solders G, Holmgren G, Holmberg D, Holmberg M.

Hum Mol Genet. 2004 Apr 15;13(8):799-805.

PMID:
14976160
2.

Norrbottnian congenital insensitivity to pain.

Minde JK.

Acta Orthop Suppl. 2006 Apr;77(321):2-32.

PMID:
16768023
3.

Haploinsufficiency of the nerve growth factor beta gene in a 1p13 deleted female child with an insensitivity to pain.

Fitzgibbon GJ, Kingston H, Needham M, Gaunt L.

Dev Med Child Neurol. 2009 Oct;51(10):833-7. doi: 10.1111/j.1469-8749.2008.03173.x.

4.

Nerve growth factor R221W responsible for insensitivity to pain is defectively processed and accumulates as proNGF.

Larsson E, Kuma R, Norberg A, Minde J, Holmberg M.

Neurobiol Dis. 2009 Feb;33(2):221-8. doi: 10.1016/j.nbd.2008.10.012.

PMID:
19038341
6.

A novel NGFB point mutation: a phenotype study of heterozygous patients.

Minde J, Andersson T, Fulford M, Aguirre M, Nennesmo I, Remahl IN, Svensson O, Holmberg M, Toolanen G, Solders G.

J Neurol Neurosurg Psychiatry. 2009 Feb;80(2):188-95. doi: 10.1136/jnnp.2007.136051.

PMID:
18420729
7.

Orthopedic aspects of familial insensitivity to pain due to a novel nerve growth factor beta mutation.

Minde J, Svensson O, Holmberg M, Solders G, Toolanen G.

Acta Orthop. 2006 Apr;77(2):198-202.

PMID:
16752279
8.

Dominantly transmitted congenital indifference to pain.

Landrieu P, Said G, Allaire C.

Ann Neurol. 1990 May;27(5):574-8.

PMID:
1694419
9.

[Congenital insensitivity to pain].

Danziger N, Willer JC.

Rev Neurol (Paris). 2009 Feb;165(2):129-36. doi: 10.1016/j.neurol.2008.05.003. Review. French.

PMID:
18808773
10.

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. doi: 10.1111/ejn.12461. Review.

PMID:
24494679
11.

Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study.

Minde J, Toolanen G, Andersson T, Nennesmo I, Remahl IN, Svensson O, Solders G.

Muscle Nerve. 2004 Dec;30(6):752-60.

PMID:
15468048
12.

A stop codon mutation in SCN9A causes lack of pain sensation.

Ahmad S, Dahllund L, Eriksson AB, Hellgren D, Karlsson U, Lund PE, Meijer IA, Meury L, Mills T, Moody A, Morinville A, Morten J, O'donnell D, Raynoschek C, Salter H, Rouleau GA, Krupp JJ.

Hum Mol Genet. 2007 Sep 1;16(17):2114-21.

PMID:
17597096
13.

Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

Goldberg YP, MacFarlane J, MacDonald ML, Thompson J, Dube MP, Mattice M, Fraser R, Young C, Hossain S, Pape T, Payne B, Radomski C, Donaldson G, Ives E, Cox J, Younghusband HB, Green R, Duff A, Boltshauser E, Grinspan GA, Dimon JH, Sibley BG, Andria G, Toscano E, Kerdraon J, Bowsher D, Pimstone SN, Samuels ME, Sherrington R, Hayden MR.

Clin Genet. 2007 Apr;71(4):311-9.

PMID:
17470132
14.

Exclusion of p75NGFR and other candidate genes in a family with hereditary sensory neuropathy type II.

Davar G, Shalish C, Blumenfeld A, Breakfield XO.

Pain. 1996 Sep;67(1):135-9.

PMID:
8895241
15.

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.

Miura Y, Hiura M, Torigoe K, Numata O, Kuwahara A, Matsunaga M, Hasegawa S, Boku N, Ino H, Mardy S, Endo F, Matsuda I, Indo Y.

Hum Genet. 2000 Sep;107(3):205-9.

PMID:
11071380
16.
18.

Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene.

Suriu C, Khayat M, Weiler M, Kfir N, Cohen C, Zinger A, Aslanidis C, Schmitz G, Falik-Zaccai TC.

Clin Genet. 2009 Mar;75(3):230-6. doi: 10.1111/j.1399-0004.2008.01143.x.

PMID:
19250380
19.

Nerve growth factor, pain, itch and inflammation: lessons from congenital insensitivity to pain with anhidrosis.

Indo Y.

Expert Rev Neurother. 2010 Nov;10(11):1707-24. doi: 10.1586/ern.10.154. Review.

PMID:
20977328
20.

[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. Spanish.

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