SCOPUS 정보 검색 플랫폼

Volumn 3, Issue 4, 2012, Pages 413-414

Two new gene mutations for late onset mitochondrial neurogastrointestinal encephalopathy (mngie)

(4) Etienne, Gathline a Shamseddine, Khadijah a Pulley, Michael a Milfred, Fatima a

a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE (United States)

Author keywords

Deoxyuridine; Human gene mutation database (HGMD); Mitochondrial neurogastrointestinal encephalopathy (MNGIE); Nucleoside; Thymidine; TYMP gene

Indexed keywords

ARGININE; IMMUNOGLOBULIN; LEUCINE; PHENYLALANINE; THYMIDINE; THYMIDINE PHOSPHORYLASE; VALINE;

ADULT; AMINO ACID SUBSTITUTION; AREFLEXIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD ANALYSIS; CACHEXIA; CASE REPORT; CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY; DIARRHEA; DIFFERENTIAL DIAGNOSIS; DYSPHAGIA; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; LEUKOENCEPHALOPATHY; MALE; MISSENSE MUTATION; MNGIE SYNDROME; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; PERIPHERAL NEUROPATHY; POLYNEUROPATHY; PREVALENCE; PRIORITY JOURNAL; PTOSIS; RECTUM BIOPSY; SENSORIMOTOR NEUROPATHY; STOMACH PARESIS; TYMP GENE; URINALYSIS; VOMITING; WEIGHT REDUCTION;

EID: 84871403356 PISSN: 20813856 EISSN: 20816936 Source Type: Journal
DOI: 10.2478/s13380-012-0042-9 Document Type: Article

Times cited : (3)

References (7)

1
- 23644432014
- Thymidine phosphorylase mutations cause instability of mitochondrial DNA
- DOI 10.1016/j.gene.2005.04.041, PII S0378111905001976
- Hirano, M., Lagier-Tourenne, C., Valentino, M. L., Marti, R., Nishigaki, Y., Thymidine phosphorylase mutations cause instability of mitochondrial DNA, Gene, 354, 152-156, 2005 (Pubitemid 41116695)
- (2005) Gene , vol.354 , Issue.SPEC. ISS. 1-2 , pp. 152-156
- Hirano, M.¹ Lagier-Tourenne, C.² Valentino, M.L.³ Marti, R.⁴ Nishigaki, Y.⁵

2
- 81055133547
- Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy
- Garone C., Tadesse S., Hirano M., Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy, Brain, 2011, 134, 3326-3332
- (2011) Brain , vol.134 , pp. 3326-3332
- Garone, C.¹ Tadesse, S.² Hirano, M.³

3
- 84871416873
- http://www.hgmd.org/

4
- 0037072280
- Phenotypic variability in a Spanish family with MNGIE
- Gamez J., Ferreiro C., Accarino M.L., Guarner L.M., Tadesse S., Marti R.A., et al., Phenotypic variability in a Spanish family with MNGIE, Neurology, 2002, 13, 59, 455-457 (Pubitemid 34857946)
- (2002) Neurology , vol.59 , Issue.3 , pp. 455-457
- Gamez, J.¹ Ferreiro, C.² Accarino, M.L.³ Guarner, L.⁴ Tadesse, S.⁵ Marti, R.A.⁶ Andreu, A.L.⁷ Raguer, N.⁸ Cervera, C.⁹ Hirano, M.¹⁰

5
- 25444439810
- Late-onset MNGIE due to partial loss of thymidine phosphorylase activity
- DOI 10.1002/ana.20615
- Marti R., Verschuuren J.J.G.M., Buchman A., Hirano I., Tadesse S., van Kuilenburg A.B.P., et al., Late-onset MNGIE due to partial loss of thymidine phosphorylase activity, Ann. Neurol., 58, 649-652, 2005 (Pubitemid 41377233)
- (2005) Annals of Neurology , vol.58 , Issue.4 , pp. 649-652
- Marti, R.¹ Verschuuren, J.J.G.M.² Buchman, A.³ Hirano, I.⁴ Tadesse, S.⁵ Van Kuilenburg, A.B.P.⁶ Van Gennip, A.H.⁷ Poorthuis, B.J.H.M.⁸ Hirano, M.⁹

6
- 0033613865
- Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
- Nishino I., Spinazzola A., Hirano M., Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder, Science, 283, 689-692, 1999
- (1999) Science , vol.283 , pp. 689-692
- Nishino, I.¹ Spinazzola, A.² Hirano, M.³

7
- 33750359435
- Treating MNGIE: Is reducing blood nucleosides the first cure for a mitochondrial disorder?
- Patrick F.C., John V., Treating MNGIE: is reducing blood nucleosides the first cure for a mitochondrial disorder?, Neurology, 2006, 67, 1330-1332
- (2006) Neurology , vol.67 , pp. 1330-1332
- Patrick, F.C.¹ John, V.²

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.