Publications by authors named "Safoora B Syeda"

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Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
Johnnie Turner, Christine C Bruels, Audrey L Daugherty, Elicia A Estrella, Seth Stafki, Safoora B Syeda

Muscle Nerve· October 2024

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Recurrent de novo variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Safoora B Syeda, Museer A Lone, Payam Mohassel, Sandra Donkervoort, Pinki Munot

J Neurol Neurosurg Psychiatry· January 2024

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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Andres Nascimento, Christine C Bruels, Sandra Donkervoort, A Reghan Foley, Anna Codina, Safoora B Syeda

Acta Neuropathol· April 2023

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POLRMT mutations impair mitochondrial transcription causing neurological disease.
Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Safoora B Syeda

Nat Commun· February 2021

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