Associated Papers
Exonic splicing code and coordination of divalent metals in proteins.
Bakhtiar D et al.
Nucleic Acids Research, 2024
38055834 (PubMed )
Supplement: gkad1161_supplemental_files.zip › Supplementary_information-FORMATTED-revised.pdf
Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome.
Rachad L et al.
Neuroscience Letters, 2019
Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M et al.
Genome Biology, 2016
27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM1_ESM.pdf
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
Carecchio M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.
Roubergue A et al.
Journal of Inherited Metabolic Disease, 2011
Myoclonus-dystonia: significance of large SGCE deletions.
Grünewald A et al.
Human Mutation, 2008
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