SCOPUS 정보 검색 플랫폼

Neurology

Volumn 55, Issue 7, 2000, Pages 1036-1039

Adult-onset MLD: A gene mutation with isolated polyneuropathy

(7) Felice, Kevin J a Gomez Lira, M b Natowicz, M c,d Grunnet, M L a Tsongalis, G J e Sima, A A F f Kaplan, R F a

a UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE (United States)

b UNIVERSITY OF VERONA (Italy)

c UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL (United States)

d HARVARD MEDICAL SCHOOL (United States)

e HARTFORD HOSPITAL (United States)

f WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE; SULFATIDE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; ENZYME ACTIVITY; FIBROBLAST; GENETIC ANALYSIS; HUMAN; LEUKOCYTE; MALE; METACHROMATIC LEUKODYSTROPHY; MISSENSE MUTATION; MYELINATED NERVE; NERVE BIOPSY; NERVE CONDUCTION; ONSET AGE; POLYNEUROPATHY; PRIORITY JOURNAL; SCHWANN CELL; SURAL NERVE;

EID: 0034633649 PISSN: 00283878 EISSN: None Source Type: Journal
DOI: 10.1212/WNL.55.7.1036 Document Type: Article

Times cited : (21)

References (10)

1
- 0023183869
- A simple chromogenic assay for arylsulfatase A
- (1987) Clin Chim Acta , vol.164 , pp. 171-180
- Lee-Vaupel, M.¹ Conzelmann, E.²

2
- 0027434879
- Simultaneous detection of the most frequent metachromatic leukodystrophy mutations
- (1993) Hum Genet , vol.92 , pp. 421-423
- Berger, J.¹ Molzer, B.² Gieselmann, V.³ Bernheimer, H.⁴

3
- 0031898880
- Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes: Description of a novel null-type mutation
- (1998) Hum Genet , vol.102 , pp. 459-463
- Gomez Lira, M.¹ Perusi, C.² Mottes, M.³

4
- 0026816352
- Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: Application to the study of some cystic fibrosis mutations
- (1992) Mol Cell Probes , vol.6 , pp. 1-7
- Gasparini, P.¹ Bonizzato, A.² Dognini, M.³ Pignatti, P.F.⁴

5
- 0027296961
- An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy
- (1993) Hum Mutat , vol.2 , pp. 261-267
- Harvey, J.S.¹ Nelson, P.V.² Carey, W.F.³ Robertson, E.F.⁴ Morris, C.P.⁵

6
- 85037929063
- Metachromatic leukodystrophy
- Vinken PJ, Bruyn W, Klawans HL, eds. Handbook of clinical neurology, volume 60. Hereditary neuropathies and spinocerebellar atrophies. Amsterdam, the Netherlands: Elsevier Science Publishers
- (1991) , pp. 123-129
- Luijten, J.A.F.M.¹

7
- 0028148250
- Molecular genetics of metachromatic leukodystrophy
- (1994) Hum Mutat , vol.4 , pp. 233-242
- Gieselmann, V.¹ Zlotogora, J.² Harris, A.³ Wenger, D.A.⁴ Morris, P.⁵

8
- 0028059861
- The arylsulphatase A gene and molecular genetics of metachromatic leukodystrophy
- (1994) J Med Genet , vol.31 , pp. 663-666
- Barth, M.L.¹ Fensom, A.² Harris, A.³

9
- 0001368684
- Other inherited neuropathies
- Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral Neuropathy. Philadelphia, PA: WB Saunders
- (1993) , pp. 1194-1201
- Thomas, P.K.¹

10
- 0026638338
- Adult-onset metachromatic leukodystrophy presenting as isolated peripheral neuropathy
- (1992) Neurology , vol.42 , pp. 1396-1398
- Fressinaud, C.¹ Vallat, J.M.² Masson, M.³ Jauberteau, M.O.⁴ Baumann, N.⁵ Hugon, J.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.