Associated Papers
Kufor-Rakeb syndrome: a cohort-based clinical, imaging and genetic profile.
Roy S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Kumar RD et al.
American Journal of Medical Genetics. Part A, 2022
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).
Schneider SA et al.
Current Neuropharmacology, 2013
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
Eiberg H et al.
Clinical Genetics, 2012
Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.
Schneider SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
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