Brain MRI and SPECT in the diagnosis of early neurological involvement in Wilson’s disease

[1] Olsson C(2000)Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples Eur J Hum Genet. 8 933-938

[2] Waldenstrom E(1985)Epidemiologic study of hepatolenticular degeneration (Wilson’s disease) in Sardinia (1902-1983) Acta Neurol Scand. 72 43-55

[3] Westermark K(1995)Molecular pathology and haplotype analysis of Wilson’s disease in Mediterranean populations Am J Hum Genet. 57 1318-1324

[4] Landegre U(1999)Molecular characterization of Wilson disease in the Sardinian population-evidence of a founder effect Hum Mut. 14 294-303

[5] Syvanen AC(2003)A practice guideline on Wilson’s disease Hepatology l37 75-92

[6] Giagheddu A(1993)The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene Nat Genet. 5 327-337

[7] Demelia L(1994)Characterization of the Wilson’s disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing and structure/function predictions Hum Mol Genet. 3 1647-1656

[8] Puggioni G(2003)Genetic variation in the promoter and 5′ UTR of the copper transporter, ATP7B, in patients with Wilson disease Clin Genet. 64 429-432

[9] Nurchi AM(2006)Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing Hum Genet. 120 151-159

[10] Contu L(1998)Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations Eur J Pediatr. 157 128-129

[1] Olsson C(2000)Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples Eur J Hum Genet. 8 933-938

[2] Waldenstrom E(1985)Epidemiologic study of hepatolenticular degeneration (Wilson’s disease) in Sardinia (1902-1983) Acta Neurol Scand. 72 43-55

[3] Westermark K(1995)Molecular pathology and haplotype analysis of Wilson’s disease in Mediterranean populations Am J Hum Genet. 57 1318-1324

[4] Landegre U(1999)Molecular characterization of Wilson disease in the Sardinian population-evidence of a founder effect Hum Mut. 14 294-303

[5] Syvanen AC(2003)A practice guideline on Wilson’s disease Hepatology l37 75-92

[6] Giagheddu A(1993)The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene Nat Genet. 5 327-337

[7] Demelia L(1994)Characterization of the Wilson’s disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing and structure/function predictions Hum Mol Genet. 3 1647-1656

[8] Puggioni G(2003)Genetic variation in the promoter and 5′ UTR of the copper transporter, ATP7B, in patients with Wilson disease Clin Genet. 64 429-432

[9] Nurchi AM(2006)Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing Hum Genet. 120 151-159

[10] Contu L(1998)Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations Eur J Pediatr. 157 128-129