Sally Spendiff

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Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases

Alexa Derksen,Rachel Thompson, Madeeha Shaikh,Sally Spendiff,Theodore J. Perkins,Hanns Lochmuller

HUMAN MUTATION (2024)

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A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (Achrδ)

Stephen Henry Holland, Ricardo Carmona-Martinez, Kaela O'Connor, Daniel O'Neil,Andreas Roos,Sally Spendiff,Hanns Lochmueller

BIOMOLECULES（2024）

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Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy

Cristina Manis,Mattia Casula,Andreas Roos,Andreas Hentschel,Matthias Vorgerd,Oksana Pogoryelova,Alexa Derksen,Sally Spendiff,Hanns Lochmüller, Pierluigi Caboni

Molecules (Basel, Switzerland)no. 21 (2024)

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512P Investigating Muscle Specific Kinase Agonist Antibody Treatment for Agrn and ColQ Congenital Myasthenic Syndromes

K. Ho, O. Adjei-Afriyie, R. Carmona, R. Ray, J. Zeldin, D. O'Neil, R. Vanhauwaert,S. Spendiff, H. Lochmüller

Neuromuscular Disorders（2024）

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Partial Loss of Desmin Expression Due to a Leaky Splice Site Variant in the Human DES Gene is Associated with Neuromuscular Transmission Defects

Kiran Polavarapu, Daniel O'Neil,Rachel Thompson,Sally Spendiff,Bevinahalli Nandeesh,Seena Vengalil,Akshata Huddar,Dipti Baskar,Gautham Arunachal,Ananthapadmanabha Kotambail, Saloni Bhatia, Seetam Kumar Tumulu,Leslie Matalonga,Ana Topf,Steven Laurie, Joshua Zeldin,Saraswati Nashi,Gopikrishnan Unnikrishnan,Atchayaram Nalini,Hanns Lochmueller

NEUROMUSCULAR DISORDERS（2024）

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Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease

Kaela O’Connor,Sally Spendiff,Hanns Lochmüller,Rita Horvath

International Journal of Molecular Sciences（2023）

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GNE Myopathy: A Novel Method for the Estimation of Disease Prevalence Using Genomic Databases

Alexa Derksen,Rachel Thompson,Sally Spendiff,Hanns Lochmueller

JOURNAL OF THE NEUROLOGICAL SCIENCES (2023)

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Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes Through in Vivo Models

Alessia Pugliese, Stephen H. Holland,Carmelo Rodolico,Hanns Lochmueller,Sally Spendiff

JOURNAL OF NEUROMUSCULAR DISEASESno. 5 (2023): 731-759

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论文共 52 篇作者统计合作学者相似作者