Browsing CRIStin høstingsarkiv by Author "Saadi, Saadia Maryam"

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  • A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability 
    Yousaf, Hammad; Rehmat, Shagufta; Jameel, Muhammad; Ibrahim, Rabab; Hashmi, Sohana Nadeem; Makhdoom, Ehtisham Ul Haq; Iwaszkiewicz, Justyna; Saadi, Saadia Maryam; Tariq, Muhammad; Baig, Shahid M.; Toft, Mathias; Fatima, Ambrin; Iqbal, Zafar (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2023)
    Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS, OMIM#619150) is an ultra-rare childhood-onset autosomal recessive movement disorder manifesting paroxysmal dyskinesia, global developmental ...
  • Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders 
    Saadi, Saadia Maryam; Cali, Elisa; Khalid, Lubaba Bintee; Yousaf, Hammad; Zafar, Ghazala; Khan, Haq Nawaz; Sher, Muhammad; Vona, Barbara; Abdullah, Uzma; Malik, Naveed Altaf; Klar, Joakim; Efthymiou, Stephanie; Dahl, Niklas; Houlden, Henry; Toft, Mathias; Baig, Shahid Mahmood; Fatima, Ambrin; Iqbal, Zafar (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2023)
    Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, ...