ArticleMovement disorders clinical practice2025
Novel Biallelic SQSTM1 Mutation Causing a Subacute-Onset Complex Movement Disorder with Oculomotor Abnormalities.
Ana Luísa de Almeida Marcelino, Nina-Maria Wilpert, Jonas Leubner, Felix Boschann, Nadja Ehmke, Christoph J Ploner, Tina Mainka, Markus Schuelke, Andrea A Kühn
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In one paragraphArticle in Movement disorders clinical practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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9 authors.
Ana Luísa de Almeida MarcelinoDepartment of Neurology with Experimental Neurology, Movement Disorders and Neuromodulation Unit, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID https://orcid.org/0000-0002-3291-7222 Nina-Maria WilpertBerlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité (Junior) Clinician Scientist Program, Berlin, Germany.
Jonas LeubnerDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Felix BoschannBerlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité (Junior) Clinician Scientist Program, Berlin, Germany.
Nadja EhmkeInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Christoph J PlonerDepartment of Neurology with Experimental Neurology, Campus Virchow Klinikum, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Tina MainkaDepartment of Neurology with Experimental Neurology, Movement Disorders and Neuromodulation Unit, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID https://orcid.org/0000-0002-0597-2648 Markus SchuelkeDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID https://orcid.org/0000-0003-2824-3891 Andrea A KühnDepartment of Neurology with Experimental Neurology, Movement Disorders and Neuromodulation Unit, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Funding
Berliner Sparkassenstiftung MedizinDeutsche Forschungsgemeinschaft EXC-2049 - 390688087Deutsche Forschungsgemeinschaft Project-ID-424778381-TRR295
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Indexed as
ataxiadystoniaoculomotor abnormalitiespediatric movement disordersSQSTM1
Identifiers
PMID40728085
PMCPMC12999036
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