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Irish Child Health Database - Peer Reviewed Papers

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1. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

The aim of this study was to examine REEP1 mutation spectrum and genotype/phenotype correlation for hereditary spastic paraplegia type 31

Abstract:

Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients more...

International Classification:

Diseases of the nervous system - Cerebral palsy and other paralytic syndromes - spastic paraplegia

Categories:

hereditary spastic paraplegia type 31

Geography:

International

Brain, Vol: 131 Page: 1078-1086 2008
C. Beetz; R. Schule; T. Deconinck; K. N. Tran-Viet; H. Zhu; B. P. H. Kremer; S. G. M. Frints; W. A. G. Van Zelst-Stams; P. Byrne; S. Otto; A. O. H. Nygren; J. Baets; K. Smets; B. Ceulemans; B. Dan; N. Nagan; J. Kassubek; S. Klimpe; T. Klopstock; H. Stolze; H. J. M. Smeets; C. T. R. M. Schrander-Stumpel; M. Hutchinson; B. P. Van De Warrenburg; C. Braastad; T. Deufel; M. Pericak-Vance; L. Schols; P. De Jonghe; S. Zuchner

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