SCOPUS 정보 검색 플랫폼

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 83, Issue 1, 2012, Pages 119-120

Mutation in FAM134B causing severe hereditary sensory neuropathy

(5) Murphy, Sinéad M a Davidson, Gabrielle L a Brandner, Sebastian a Houlden, Henry a Reilly, Mary M a

a UNIVERSITY COLLEGE LONDON (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; FAM134B PROTEIN; MATRIX PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; AMPUTATION; BONE RADIOGRAPHY; CASE REPORT; CHRONIC OSTEOMYELITIS; CLINICAL FEATURE; CONSANGUINITY; DISEASE SEVERITY; FAM134B GENE; FEMALE; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; LETTER; NERVE BIOPSY; NERVE CONDUCTION; NEUROPSYCHOLOGICAL TEST; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SENSORY NEUROPATHY; SURAL NERVE;

CHILD; CODON, NONSENSE; FEMALE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HOMOZYGOTE; HUMANS; NEOPLASM PROTEINS; NEUROPSYCHOLOGICAL TESTS;

EID: 84155164515 PISSN: 00223050 EISSN: 1468330X Source Type: Journal
DOI: 10.1136/jnnp.2010.228965 Document Type: Letter

Times cited : (51)

References (5)

1
- 6944248980
- Hereditary sensory neuropathies
- DOI 10.1097/00019052-200410000-00007
- Houlden H, Blake J, Reilly MM. Hereditary sensory neuropathies. Curr Opin Neurol 2004;17:569-77. (Pubitemid 39410873)
- (2004) Current Opinion in Neurology , vol.17 , Issue.5 , pp. 569-577
- Houlden, H.¹ Blake, J.² Reilly, M.M.³

2
- 2342557998
- Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates
- DOI 10.1086/420795
- Lafreniere RG, MacDonald ML, Dube MP, et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 2004;74:1064-73. (Pubitemid 38568977)
- (2004) American Journal of Human Genetics , vol.74 , Issue.5 , pp. 1064-1073
- Lafreniere, R.G.¹ MacDonald, M.L.E.² Dube, M.-P.³ MacFarlane, J.⁴ O'Driscoll, M.⁵ Brais, B.⁶ Meilleur, S.⁷ Brinkman, R.R.⁸ Dadivas, O.⁹ Pape, T.¹⁰ Platon, C.¹¹ Radomski, C.¹² Risler, J.¹³ Thompson, J.¹⁴ Guerra-Escobio, A.-M.¹⁵ Davar, G.¹⁶ Breakefield, X.O.¹⁷ Pimstone, S.N.¹⁸ Green, R.¹⁹ Pryse-Phillips, W.²⁰ more..

3
- 70350646901
- Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
- Kurth I, Pamminger T, Hennings JC, et al. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet 2009;41:1179-81.
- (2009) Nat Genet , vol.41 , pp. 1179-1181
- Kurth, I.¹ Pamminger, T.² Hennings, J.C.³

4
- 1942517847
- A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception
- DOI 10.1093/hmg/ddh096
- Einarsdottir E, Carlsson A, Minde J, et al. A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum Mol Genet 2004;13:799-805. (Pubitemid 38515209)
- (2004) Human Molecular Genetics , vol.13 , Issue.8 , pp. 799-805
- Einarsdottir, E.¹ Carlsson, A.² Minde, J.³ Toolanen, G.⁴ Svensson, O.⁵ Solders, G.⁶ Holmgren, G.⁷ Holmberg, D.⁸ Holmberg, M.⁹

5
- 0035093827
- SPTLC1 is mutated in hereditary sensory neuropathy, type 1
- DOI 10.1038/85817
- Bejaoui K, Wu C, Scheffler MD, et al. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet 2001;27:261-2. (Pubitemid 32201845)
- (2001) Nature Genetics , vol.27 , Issue.3 , pp. 261-262
- Bejaoui, K.¹ Wu, C.² Scheffler, M.D.³ Haan, G.⁴ Ashby, P.⁵ Wu, L.⁶ De Jong, P.⁷ Brown Jr., R.H.⁸

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.