SCOPUS 정보 검색 플랫폼

Volumn 94, Issue 1, 2000, Pages 1-4

Novel syndromic form of X-linked complicated spastic paraplegia

(8) Claes, S c Devriendt, K a Van Goethem, G b Roelen, L b Meireleire, J b Raeymaekers, P c Cassiman, J J a Fryns, J P a

a UNIVERSITY OF LEUVEN (Belgium)

b Stichting A Kinsbergen Gehandicaptenzorg Provincie Antwerpen Vzw (Belgium)

c UNIVERSITY OF ANTWERP (Belgium)

Author keywords

Spastic paraplegia; SPG; XLMR

Indexed keywords

CELL ADHESION MOLECULE; PROTEOLIPID PROTEIN;

ADULT; ARTICLE; CASE REPORT; DNA POLYMORPHISM; GENE LOCUS; GENETIC LINKAGE; HUMAN; HYPOPLASIA; MALE; MARKER GENE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; SYNDROME; X CHROMOSOMAL INHERITANCE; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; CHROMOSOME MAPPING; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; PEDIGREE; POLYMORPHISM, GENETIC; SPASTIC PARAPLEGIA, HEREDITARY; SYNDROME; X CHROMOSOME;

EID: 0034605364 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(20000904)94:1<1::AID-AJMG1>3.0.CO;2-V Document Type: Article

Times cited : (46)

References (11)

1
- 0027212813
- X-linked spastic paraplegia (SPG2): Clinical heterogeneity at a single gene locus
- (1993) J Med Genet , vol.30 , pp. 381-384
- Bonneau, D.¹ Rozet, J.M.² Bulteau, C.³ Berthier, M.⁴ Mettey, R.⁵ Gil, R.⁶ Munnich, A.⁷ Le Merrer, M.⁸

2
- 0027366195
- Faster sequential genetic linkage computations
- (1993) Am J Hum Genet , vol.53 , pp. 252-263
- Cottingham, R.W.¹ Idury, R.M.² Schaffer, A.A.³

3
- 13344259999
- A comprehensive genetic map of the human genome based on 5,264 microsatellites
- (1996) Nature , vol.380 , pp. 152-154
- Dib, C.¹ Faure, S.² Fizames, C.³ Samson, D.⁴ Drouot, N.⁵ Vignal, A.⁶ Millasseau, P.⁷ Marc, S.⁸ Hazan, J.⁹ Seboun, E.¹⁰ Lathrop, M.¹¹ Gyapay, G.¹² Morisette, J.¹³ Weissenbach, J.¹⁴

4
- 0025911628
- X-linked complicated spastic paraplegia, MASA syndrome, and X-linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: Variable expression of the same mutation at Xq28
- (1991) J Med Genet , vol.28 , pp. 429-431
- Fryns, J.P.¹ Spaepen, A.² Cassiman, J.J.³ Van Den Berghe, H.⁴

5
- 0024519130
- X-linked spastic paraplegia: Evidence for homogeneity with a variable phenotype
- (1989) Clin Genet , vol.35 , pp. 116-120
- Goldblatt, J.¹ Ballo, R.² Sachs, B.³ Moosa, A.⁴

6
- 0028241952
- X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
- (1994) Nat Genet , vol.7 , pp. 402-407
- Jouet, M.¹ Rosenthal, A.² Armstrong, G.³ McFarlane, J.⁴ Stevenson, R.⁵ Paterson, J.⁶ Metzenberg, A.⁷ Ionasescu, V.⁸ Temple, K.⁹ Kenwrick, S.¹⁰

7
- 0022875854
- Linkage studies of X-linked recessive spastic paraplegia using DNA probes
- (1986) Hum Genet , vol.73 , pp. 264-266
- Kenwrick, S.¹ Ionasescu, V.² Ionasescu, G.³ Searby, C.⁴ King, A.⁵ Dubowitz, M.⁶ Davies, K.E.⁷

8
- 0028236505
- The rumpshaker mutation in spastic paraplegia
- (1994) Nat Genet , vol.7 , pp. 351-352
- Kobayashi, H.¹ Hoffman, E.P.² Marks, H.G.³

9
- 0021344005
- Easy calculations of lod scores and genetic risks on small computers
- (1984) Am J Hum Genet , vol.36 , pp. 460-465
- Lathrop, G.M.¹ Lalouel, G.M.²

10
- 0028794116
- Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males
- (1995) Biochem Biophys Res , vol.215 , pp. 835-841
- Osaka, H.¹ Kawanishi, C.² Inoue, K.³ Uesugi, H.⁴ Hiroshi, K.⁵ Nishiyama, K.⁶ Yamada, Y.⁷ Suzuki, K.⁸ Kimura, S.⁹ Kosaka, K.¹⁰

11
- 0028239867
- X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
- (1994) Nat Genet , vol.6 , pp. 257-262
- Saugier-Veber, P.¹ Munnich, A.² Bonneau, D.³ Rozet, J.M.⁴ Le Merrer, M.⁵ Gil, R.⁶ Boespflug-Tanguy, O.⁷

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.