Publications by authors named "Safoora Syeda"

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Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
Sarah Silverstein, Rotem Orbach, Safoora Syeda, A Reghan Foley, Svetlana Gorokhova

HGG Adv· January 2025

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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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Evaluation of the Effect of Various Beverages and Food Materials on the Color Stability of Provisional Materials: An In Vitro Study.
Tanveer Fatima, Parvez Abubakar, Sumit Deshpande, Nazia Afreen, G Sheshnag, Syeda Safoora

Cureus· July 2024

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Differential inclusion of exons 143 and 144 provides insight into -related myopathy variant interpretation and disease manifestation.
Sarah Silverstein, Rotem Orbach, Safoora Syeda, A Reghan Foley, Svetlana Gorokhova

medRxiv· March 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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A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.
Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J Bradley

Ann Clin Transl Neurol· August 2023

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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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Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.
Luisa Averdunk, Sandra Donkervoort, Denise Horn, Stephan Waldmüller, Safoora Syeda

Neuropediatrics· October 2022

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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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