Profil bibliographique

Safoora Syeda

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

11Publications signalées

57Citations signalées

2Affiliations récentes

Institutions déclarées

National Institutes of Health National Institute of Neurological Disorders and Stroke

Domaines associés

Cardiomyopathy and Myosin StudiesMuscle Physiology and DisordersNeurogenetic and Muscular Disorders ResearchAmyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Publications récentes

Accès ouvert 2024 articleOpenAlex

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 et autres

1 citationHuman Genetics and Genomics Advances

2024 articleOpenAlex

Childhood Onset Amyotrophic Lateral Sclerosis Associated with SPTLC2 Gain-of-Function Pathogenic Variants: Clinical, Genetic, and Biochemical Insights (P4-8.001)

Rotem Orbach, Safoora Syeda, Payam Mohassel, Maike F. Dohrn et autres

0 citationsNeurology

Accès ouvert 2024 preprintOpenAlex

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 et autres

0 citationsmedRxiv

Accès ouvert 2023 articleOpenAlex

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

Safoora Syeda, Museer A. Lone, Payam Mohassel, Sandra Donkervoort et autres

24 citationsJournal of Neurology Neurosurgery & Psychiatry

2023 conference-abstractOpenAlex

P169 Childhood onset amyotrophic lateral sclerosis associated with SPTLC2 gain-of-function pathogenic variants: clinical, genetic, and biochemical insights

Robert Bach, Safoora Syeda, Payam Mohassel, Maike F. Dohrn et autres

1 citationNeuromuscular Disorders

Accès ouvert 2023 articleOpenAlex

A comprehensive study of skeletal muscle imaging in FHL1 ‐related reducing body myopathy

Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra et autres

6 citationsAnnals of Clinical and Translational Neurology

Accès ouvert 2023 articleOpenAlex

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

A. Nascimento, Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley et autres

13 citationsActa Neuropathologica

Accès ouvert 2022 articleOpenAlex

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 et autres

12 citationsNeuropediatrics

2021 articleOpenAlex

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES

Shana Silverstein, Safoora Syeda, A. Reghan Foley, Katherine G. Meilleur et autres

0 citationsNeuromuscular Disorders

2021 articleOpenAlex

COLLAGEN RELATED MUSCLE DISEASES

Maha Mohammed, Safoora Syeda, A. Reghan Foley, Sandra Donkervoort et autres

0 citationsNeuromuscular Disorders

2021 articleOpenAlex

COLLAGEN RELATED MUSCLE DISEASES

Safoora Syeda, Maha Mohammed, A. Reghan Foley, Sandra Donkervoort et autres

0 citationsNeuromuscular Disorders

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