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Dagmara Kabzińska

Polish Academy of Sciences

49

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460

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Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network.

2021 International Journal of Molecular Sciences
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Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

2021 JCI insight
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DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISM

2021 medRxiv
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Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model.

2020 Genes
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O-34 Hereditary or inflammatory childhood neuropathy – Electrophysiological abnormalities helpful in the differentiation

2019 Clinical Neurophysiology
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A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

2017 Journal of Applied Genetics
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The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient

2017 PLOS ONE
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Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies

2016 Journal of The Peripheral Nervous System
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Molecular genetics background and clinical features of inherited polyneuropathy plus syndromes: Study of 8 families

2016 Journal of The Peripheral Nervous System
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Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features

2015 Journal of Child Neurology
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Citations (11)