Associated Papers
Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.
Teov B et al.
Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2023
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
ATP8A2-related disorders as recessive cerebellar ataxia.
Guissart C et al.
Journal of Neurology, 2020
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
McMillan HJ et al.
Orphanet Journal of Rare Diseases, 2018
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