Associated Papers
Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic.
Marsili L et al.
Biomedicines, 2024
39767580 (PubMed )
Supplement: biomedicines-12-02673-s001.zip › Supplementary_Table_S1.pdf
Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.
Motamed-Gorji N et al.
Antioxidants (basel, Switzerland), 2024
38790666 (PubMed )
Supplement: antioxidants-13-00561-s001.zip › antioxidants-2844844-supplementary.pdf
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
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