SCOPUS 정보 검색 플랫폼

Volumn 31, Issue 4, 2000, Pages 186-189

Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: A novel entity?

(9) Mercuri, E a Sewry, C A a,b Brown, S C a Brockington, M a Jungbluth, H a DeVile, C a Counsell, S a Manzur, A a Muntoni, F a

a HAMMERSMITH HOSPITAL (United Kingdom)

b ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL (United Kingdom)

Author keywords

Congenital muscular dystrophy; Fukuyama CMD; Laminin 2; Merosin

Indexed keywords

CREATINE KINASE; MEROSIN;

ARTICLE; CASE REPORT; CHILD; COGNITIVE DEVELOPMENT; CREATINE KINASE BLOOD LEVEL; GENETIC LINKAGE; HUMAN; MALE; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SKIN BIOPSY;

BIOPSY; BRAIN; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA PRIMERS; FEMALE; GENETIC MARKERS; HUMANS; INFANT; LAMININ; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; POLYMERASE CHAIN REACTION;

EID: 0033780219 PISSN: 0174304X EISSN: None Source Type: Journal
DOI: 10.1055/s-2000-7460 Document Type: Article

Times cited : (19)

References (25)

1
- 8244233831
- Mild congenital muscular dystrophy in two patients with an internally deleted laminin 2 chain
- (1997) Hum Mol Genet , vol.6 , pp. 747-752
- Allamand, V.¹ Sunada, Y.² Salih, M.A.M.³ Starub, V.⁴ Ozo, C.O.⁵ Al-Turaiki, M.H.S.⁶ Akbar, M.⁷ Kolo, T.⁸ Colognato, H.⁹ Zhang, X.¹⁰ Sorokin, L.M.¹¹ Yurchenco, P.D.¹² Tryggvason, K.¹³ Campbell, K.P.¹⁴

2
- 0031782502
- Merosin-deficient congenital muscular dystrophy and cortical dysplasia
- (1998) Eur J Paed Neurol , vol.2 , pp. 77-82
- Brett, F.M.¹ Costigan, D.² Farrell, M.A.³ Heaphy, P.⁴ Thornton, J.⁵ King, M.D.⁶

3
- 0033911803
- Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1 q42
- (2000) Am J Hum Genet , vol.66 , pp. 428-435
- Brockington, M.¹ Sewry, C.A.² Herrmann, R.³ Naom, I.⁴ Dearlove, A.⁵ Rhodes, M.⁶ Topaloglu, H.⁷ Dubowitz, V.⁸ Voit, T.⁹ Muntoni, F.¹⁰

4
- 0031594943
- Laminin 2 chain deficient congenital muscular dystrophy. Variable epitope expression in severe and mild cases
- (1998) Neurology , vol.51 , pp. 94-101
- Cohn, R.D.¹ Herrmann, R.² Sorkin, L.³ Wever, U.⁴ Voit, T.⁵

5
- 0033360965
- Assignment of the muscle-eye-brain disease gene to 1 p32-p34 by linkage analysis and homozygosity mapping
- (1999) Am J Hum Genet , vol.64 , pp. 126-135
- Cormand, B.¹ Avela, K.² Pihko, H.³ Santavuori, P.⁴ Talim, B.⁵ Topaloglu, H.⁶ De la Chapelle, A.⁷ Lehesjoki, A.E.⁸

6
- 0027954337
- 22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993
- (1994) Neuromusc Disord , vol.4 , pp. 75-81
- Dubowitz, V.¹

7
- 0029060893
- Workshop report: 27th ENMC sponsored workshop on congenital muscular dystrophy, 22-24 April 1994, The Netherlands
- (1995) Neuromusc Disord , vol.5 , pp. 253-258
- Dubowitz, V.¹ Fardeau, M.²

8
- 0029586082
- Readjusting the localisation of merosin (laminin α2 chain) deficiency congenital muscular dystrophy locus on chromosome 6q2
- (1995) C R Acad Sci Paris/Life Sciences , vol.318 , pp. 1245-1252
- Helbling-Leclerc, A.¹ Topaloglu, H.² Tome, F.M.S.³ Sewry, C.⁴ Gyapay, G.⁵ Naom, I.⁶ Muntoni, F.⁷ Dubowitz, V.⁸ Barois, A.⁹ Estournet, B.¹⁰ Urtizberea, J.A.¹¹ Weissenbach, J.¹² Schwartz, K.¹³ Fardeau, M.¹⁴ Guicheney, P.¹⁵

9
- 0029806196
- Congenital muscular dystrophy with laminin 2 chain deficiency, identification of a new intermediate phenotype and correlation of clinical findings to muscle immunochemistry
- (1996) Eur J Paediat , vol.155 , pp. 968-976
- Hermann, R.¹ Straub, V.² Meyer, K.³ Kahn, T.⁴ Wagner, M.⁵ Voit, T.⁶

10
- 0028094441
- Localisation of merosin negative congenital muscular dystrophy to chromosome 6q22 by homozygosity mapping
- (1994) Hum Mol Genet , vol.3 , pp. 1657-1661
- Hillaire, D.¹ Leclerc, A.² Faure, C.³ Topaloglu, H.⁴ Chiannilkulchai, N.⁵ Guicheney, P.⁶ Grinas, L.⁷ Legos, P.⁸ Philpot, J.⁹ Evangelista, T.¹⁰ Routon, M.C.¹¹ Mayer, M.¹² Pellissier, J.F.¹³ Estournet, B.¹⁴ Barois, A.¹⁵ Hentati, F.¹⁶ Feingold, N.¹⁷ Beckmann, J.S.¹⁸ Dubowitz, V.¹⁹ Tome, F.M.S.²⁰ Fardeau, M.²¹ more..

11
- 0032560851
- An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
- (1998) Nature , vol.394 , pp. 388-392
- Kobayashi, K.¹ Nakahori, Y.² Miyake, M.³ Matsumura, K.⁴ Kondo-Iida, E.⁵ Nomura, Y.⁶ Segawa, M.⁷ Yoshioka, M.⁸ Saito, K.⁹ Osawa, M.¹⁰ Hamano, K.¹¹ Sakakihara, Y.¹² Nonaka, I.¹³ Nakagome, Y.¹⁴ Kanazawa, I.¹⁵ Nakamura, Y.¹⁶ Tokunaga, K.¹⁷ Toda, T.¹⁸

12
- 0030273796
- Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities
- (1996) Neuromusc Disord , vol.5 , pp. 377-381
- Mora, M.¹ Moroni, I.² Uziel, G.³ Di Blasi, C.⁴ Barresi, R.⁵ Farina, L.⁶ Morandi, L.⁷

13
- 0032192272
- Laminin α2 chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy
- (1998) Neuromusc Disord , vol.8 , pp. 495-501
- Naom, I.¹ D'Alessandro, M.² Sewry, C.³ Philpot, J.⁴ Manzur, A.Y.⁵ Dubowitz, V.⁶ Muntoni, F.⁷

14
- 0030614661
- Refinement of the laminin α2 chain locus to human chromosome 6q2 in severe and mild merosin-deficient congenital muscular dystrophy
- (1997) J Med Genet , vol.34 , pp. 99-104
- Naom, I.¹ D'Alessandro, M.² Topaloglu, H.³ Sewry, C.⁴ Ferlini, A.⁵ Helbling-Leclerc, A.⁶ Guicheney, P.⁷ Weissenbach, J.⁸ Schwartz, K.⁹ Bushby, K.¹⁰ Philpot, J.¹¹ Dubowitz, V.¹² Muntoni, F.¹³

15
- 0033966862
- Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy
- (2000) Brain , vol.123 , pp. 31-41
- Naom, I.¹ D'Alessandro, M.² Sewry, C.³ Jardine, P.⁴ Ferlini, A.⁵ Moss, T.⁶ Dubowitz, V.⁷ Muntoni, E.⁸

16
- 0029061267
- Clinical phenotype in congenital muscular dystrophy: Correlation with expression of merosin in skeletal muscle
- (1995) Neuromusc Disord , vol.5 , pp. 301-305
- Philpot, J.¹ Sewry, C.² Pennock, J.³ Dubowitz, V.⁴

17
- 0033064692
- Feeding problems in merosin deficient congenital muscular dystrophy
- (1999) Arch Dis Child , vol.80 , pp. 542-547
- Philpot, J.¹ Bagnall, A.² King, C.³ Dubowitz, V.⁴ Muntoni, E.⁵

18
- 0032958065
- Merosin deficient congenital muscular dystrophy: The spectrum of brain lesions on magnetic resonance imaging
- (1999) Neuromusc Disord , vol.9 , pp. 81-85
- Philpot, J.¹ Cowan, F.² Pennock, J.³ Sewry, C.⁴ Dubowitz, V.⁵ Bydder, G.⁶ Muntoni, F.⁷

19
- 0011816003
- Merosin negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report from three Italian cases in two families
- (1996) Brain Dev , vol.18 , pp. 316-322
- Pini, A.¹ Merlini, L.² Tome, F.M.S.³ Chevalley, M.⁴ Gobbi, G.⁵

20
- 0030772143
- Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy
- (1997) Neuropediatrics , vol.28 , pp. 217-222
- Sewry, C.A.¹ D'Alessandro, M.² Wilson, L.A.³ Sorokin, L.M.⁴ Naom, I.⁵ Bruno, S.⁶ Ferlini, A.⁷ Dubowitz, V.⁸ Muntoni, F.⁹

21
- 0030918601
- Variable phenotype in merosin-deficient congenital muscular dystrophy and differential immunolabelling of two fragments of the laminin α2 chain
- (1997) Neuromusc Disord , vol.7 , pp. 169-175
- Sewry, C.A.¹ Naom, I.² D'Alessandro, M.³ Sorokin, L.⁴ Bruno, S.⁵ Wilson, L.A.⁶ Dubowitz, V.⁷ Muntoni, F.⁸

22
- 0028788685
- Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy
- (1995) J Child Neurol , vol.10 , pp. 472-475
- Shorer, Z.¹ Philpot, J.² Muntoni, F.³ Sewry, C.⁴ Dubowitz, V.⁵

23
- 0030990635
- Late onset muscular dystrophy with cerebral hypomyelination due to partial merosin deficiency
- (1997) Neuromusc Disord , vol.7 , pp. 85-89
- Tan, E.¹ Topaloglu, H.² Sewry, C.³ Zorlu, Y.⁴ Naom, I.⁵ Erdem, S.⁶ D'Alessandro, M.⁷ Muntoni, F.⁸ Dubowitz, V.⁹

24
- 0032078664
- Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: A report of two siblings
- (1998) Neuromusc Disord , vol.8 , pp. 169-174
- Topaloglu, H.¹ Talim, B.² Vignier, N.³ Helbling-Leclerc, A.H.⁴ Yetuk, M.⁵ Afsin, I.E.⁶ Caglar, M.⁷ Kale, G.⁸ Guicheney, P.⁹

25
- 0031934641
- Congenital muscular dystrophies: 1997 update
- (1998) Brain Dev , vol.20 , pp. 65-74
- Voit, T.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.