Literature DB >> 20511489

A potential novel variant of hereditary sensory neuropathy in a 61-year-old man with cough-induced syncope and vertebral artery dissection.

Emil Lou, Stephan Züchner, Jeffery Vance, Joel Morgenlander.   

Abstract

Entities:  

Mesh：

Year:  2010        PMID： 20511489      PMCID： PMC2878264          DOI： 10.4065/mcp.2009.0685

Source DB:  PubMed          Journal:  Mayo Clin Proc        ISSN： 0025-6196            Impact factor:   7.616


× No keyword cloud information.
  5 in total

1.  SPTLC1 is mutated in hereditary sensory neuropathy, type 1.

Authors:  K Bejaoui; C Wu; M D Scheffler; G Haan; P Ashby; L Wu; P de Jong; R H Brown
Journal:  Nat Genet       Date:  2001-03       Impact factor: 38.330

2.  Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.

Authors:  J L Dawkins; D J Hulme; S B Brahmbhatt; M Auer-Grumbach; G A Nicholson
Journal:  Nat Genet       Date:  2001-03       Impact factor: 38.330

3.  Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.

Authors:  Penelope J Spring; Cindy Kok; Garth A Nicholson; Alvin J Ing; Judith M Spies; Mark L Bassett; John Cameron; Paul Kerlin; Simon Bowler; Roger Tuck; John D Pollard
Journal:  Brain       Date:  2005-12       Impact factor: 13.501

4.  Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough.

Authors:  Shiroh Miura; Hiroki Shibata; Hiroshi Kida; Kazuhito Noda; Katsuro Tomiyasu; Ken Yamamoto; Akiko Iwaki; Mitsuyoshi Ayabe; Hisamichi Aizawa; Takayuki Taniwaki; Yasuyuki Fukumaki
Journal:  J Neurol Sci       Date:  2008-07-26       Impact factor: 3.181

5.  A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.

Authors:  C Kok; M L Kennerson; P J Spring; A J Ing; J D Pollard; G A Nicholson
Journal:  Am J Hum Genet       Date:  2003-07-17       Impact factor: 11.025
  5 in total
  1 in total

1.  Syncope: a complication of chronic cough.

Authors:  Jenny King; Sarah Hennessey; James Wingfield Digby; Jacklyn Ann Smith; Paul Marsden
Journal:  Breathe (Sheff)       Date:  2021-12
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.