SCOPUS 정보 검색 플랫폼

Neurology

Volumn 65, Issue 2, 2005, Pages 186-187

Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting!

(1) Reilly, Mary M a

a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE; HYBRID PROTEIN; MITOCHONDRIAL PROTEIN; MITOFUSIN 2; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; EDITORIAL; GENE; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MFN2 GENE; NERVE CONDUCTION; NERVE FIBER; NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

EID: 22544457500 PISSN: 00283878 EISSN: 1526632X Source Type: Journal
DOI: 10.1212/01.wnl.0000173904.97549.94 Document Type: Editorial

Times cited : (20)

References (7)

1
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- Nelis, E.¹ Van Broeckhoven, C.² De Jonghe, P.³

2
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- Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
- Züchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004;36:449-451.
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- Züchner, S.¹ Mersiyanova, I.V.² Muglia, M.³

3
- 22544465572
- Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.
- Lawson VH, Graham BV, Flanigan KM. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 2005;65:197-204.
- (2005) Neurology , vol.65 , pp. 197-204
- Lawson, V.H.¹ Graham, B.V.² Flanigan, K.M.³

4
- 19944425973
- Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.
- Kijima K, Numakura C, Izumino H, et al. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. Hum Genet 2005;116:23-27.
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- Kijima, K.¹ Numakura, C.² Izumino, H.³

5
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- Mutations in the small GTP-ase Late Endosomal Protein RAB7 cause Charcot-Marie-Tooth Type 2B neuropathy.
- Verhoeven K, De Jonghe, P, Coen K, et al. Mutations in the small GTP-ase Late Endosomal Protein RAB7 cause Charcot-Marie-Tooth Type 2B neuropathy. Am J Hum Genet 2003;72:722-727.
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- Verhoeven, K.¹ De Jonghe, P.² Coen, K.³

6
- 0038067742
- Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
- Antonellis A, Ellsworth RE, Sambuughin N, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003;72:1293-1299.
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7
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- The gene for HNSN2C maps to 12q23-24: a region of neuromuscular disorders.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.