Ana Topf

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Publications (9)

• A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family
  Neurology Genetics 2024 DOI: 10.1212/NXG.0000000000200185
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• Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
  Nature Genetics 2024 DOI: 10.1038/s41588-023-01651-0
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• Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
  Nature Communications 2024 DOI: 10.1038/s41467-024-45099-0
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• Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant
  Dipti Baskar, Kiran Polavarapu, Veeramani Preethish‐Kumar +11 more
  Neurology Genetics 2024 DOI: 10.1212/NXG.0000000000200122
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• Congenital myasthenic syndrome in a cohort of patients with ‘double’ seronegative myasthenia gravis
  Arquivos de Neuro-Psiquiatria 2022 DOI: 10.1590/0004-282x-anp-2020-0575
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• Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
  Genetics in Medicine 2020 DOI: 10.1038/s41436-020-0840-3
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• Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients
  Magdalena Mroczek, Hacer Durmuş, Sunita Bijarnia‐Mahay +8 more
  Neuromuscular Disorders 2020 DOI: 10.1016/j.nmd.2020.02.006
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• Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene
  Neuromuscular Disorders 2020 DOI: 10.1016/j.nmd.2020.02.012
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• Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency
  Neuromuscular Disorders 2019 DOI: 10.1016/j.nmd.2019.10.002
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