SafooraBakhtiyarSyedaMD

PubMed

• Differential inclusion ofexons 143 and 144 provides insight into-related myopathy variant interpretation and disease manifestation.
  Sarah Silverstein, Rotem Orbach, Svetlana Gorokhova, Katherine G Meilleur, Meganne E Leach, Prech Uapinyoying, Katherine R Chao, Sandra Donkervoort, Carsten G Bönneman...> ;Medrxiv. 2024 Mar 26
• 5 citations
  Recurrent de novovariant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
  Safoora B Syeda, Museer A Lone, Payam Mohassel, Sandra Donkervoort, Pinki Munot, Marcondes C França Jr, Juan Eli Galarza-Brito, Matthias Eckenweiler, Alexander Asamoah...> ;Journal of Neurology, Neurosurgery, and Psychiatry. 2024 Jan 11
• A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.
  Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J Bradley, Sandra Donkervoort, Soledad Monges, Julie S Cohen, Doris G Leung, Francina Munell, Carlos ...> ;Annals of Clinical and Translational Neurology. 2023 Aug 1
• Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
  Andres Nascimento, Christine C Bruels, Sandra Donkervoort, A Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Drap...> ;Acta Neuropathologica. 2023 Apr 1
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