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Canadian Journal of Neurological Sciences

Volumn 37, Issue 4, 2010, Pages 521-523

Homozygous Machado Joseph disease: A case report and review of literature

(4) Lysenko, Liudmila a Grewal, Raji P a Ma, Wei a Peddareddygari, Leema Reddy a

a NEW JERSEY NEUROSCIENCE INSTITUTE (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; ATXN3 PROTEIN, HUMAN; NERVE PROTEIN; NUCLEAR PROTEIN; REPRESSOR PROTEIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAG REPEAT; CASE REPORT; CLINICAL FEATURE; CONSANGUINITY; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; ELECTROMYOGRAPHY; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; MACHADO JOSEPH DISEASE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; GENETICS; HOMOZYGOTE; TRINUCLEOTIDE REPEAT;

ADULT; HOMOZYGOTE; HUMANS; MACHADO-JOSEPH DISEASE; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; REPRESSOR PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 77953353223 PISSN: 03171671 EISSN: None Source Type: Journal
DOI: 10.1017/S0317167100010581 Document Type: Article

Times cited : (9)

References (7)

1
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- Machado-Joseph disease
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- Sudarsky, L.¹ Coutinho, P.²

2
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- Homozygosity enhances severity in spinocerebellar ataxia type 3
- Apr
- Carvalho DR, La Rocque-Ferreira A, Rizzo IM, Imamura EU, Speck-Martins CE. Homozygosity enhances severity in spinocerebellar ataxia type 3. Pediatr Neurol. 2008 Apr; 38(4): 296-299
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- Carvalho, D.R.¹ La Rocque-Ferreira, A.² Rizzo, I.M.³ Imamura, E.U.⁴ Speck-Martins, C.E.⁵

3
- 0028024318
- Homozygous inheritance of the Machado-Joseph disease gene
- Sep
- Lang AE, Rogaeva EA, Tsuda T, Hutterer J, St George-Hyslop P. Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol. 1994 Sep; 36(3):443-447
- (1994) Ann Neurol , vol.36 , Issue.3 , pp. 443-447
- Lang, A.E.¹ Rogaeva, E.A.² Tsuda, T.³ Hutterer, J.⁴ St George-Hyslop, P.⁵

4
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- Homozygosity for Machado-Joseph disease gene enhances phenotypic severity
- Mar
- Sobue G, Doyu M, Nakao N, Shimada N, Mitsuma T, Maruyama H, et al. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity. J Neurol Neurosurg Psychiatry. 1996 Mar; 60(3):354-356
- (1996) J Neurol Neurosurg Psychiatry , vol.60 , Issue.3 , pp. 354-356
- Sobue, G.¹ Doyu, M.² Nakao, N.³ Shimada, N.⁴ Mitsuma, T.⁵ Maruyama, H.⁶

5
- 0029864225
- Machado- Joseph disease: Correlation between the clinical features, the CAG repeat length and homozygosity for the mutation
- Lerer I, Merims D, Abeliovich D, Zlotogora J, Gadoth N. Machado- Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur J Hum Genet. 1996; 4(1):3-7.
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- Lerer, I.¹ Merims, D.² Abeliovich, D.³ Zlotogora, J.⁴ Gadoth, N.⁵

6
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- Homozygous Machado-Joseph disease presenting as REM sleep behaviour disorder and prominent psychiatric symptoms
- Jan
- Fukutake T, Shinotoh H, Nishino H, Ichikawa Y, Goto J, Kanazawa I, et al. Homozygous Machado-Joseph disease presenting as REM sleep behaviour disorder and prominent psychiatric symptoms. Eur J Neurol. 2002 Jan; 9(1):97-100.
- (2002) Eur J Neurol , vol.9 , Issue.1 , pp. 97-100
- Fukutake, T.¹ Shinotoh, H.² Nishino, H.³ Ichikawa, Y.⁴ Goto, J.⁵ Kanazawa, I.⁶

7
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- The pathology of Machado- Joseph disease. Report of a possible homozygous case
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- Coutinho, P.¹ Guimarães, A.² Scaravilli, F.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.