Concepedia

Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series

Dénes Zádori, László Szpisjak, László Madar, V. Varga, Bernadett Csányi, Krisztina Bencsik, István Balogh, Mariann Harangi, Éva Kereszty, László Vécsei,

Neurological Sciences · 2016 · 30 citations · 5 references

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References

5

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis

Aad Verrips, Lies H. Hoefsloot, Gerry Steenbergen et al. · Brain · 2000 · 252 citations · Full text

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Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.

Eran Leitersdorf, Ayeleth Reshef, Vardiella Meiner et al. · Journal of Clinical Investigation · 1993 · 200 citations · Full text

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Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis

Andrea Mignarri, Símone Rossi, Michele Ballerini et al. · Journal of Neurology · 2010 · 34 citations

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Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: Further confirmation of the clinical heterogeneity

Maria Teresa Dotti, Antonio Federico, Rita Garuti et al. · Movement Disorders · 2000 · 27 citations · Full text

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Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp)

Yoshitaka Nagai, Michio Hirano, Toshio Mori et al. · Neurology · 1996 · 18 citations

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