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Kufor Rakeb syndrome
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There were no matches for Kufor Rakeb syndrome
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Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndro…
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndr…
Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.
ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body forma…
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TIRCON International NBIA Registry
Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM…
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