Cardiac involvement in neuronal ceroid lipofuscinosis
Kardiologia Polska, 2013 We present a case of a 58-year-old female with neuropsychiatric symptoms, followed by recurrent episodes of atrial flagellation and symptoms of heart failure. Based on intraoperative myocardial biopsy, neuronal ceroid lipofuscinosis was diagnosed.
Małgorzata, Szwoch +5 more
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Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy
Therapeutics and Clinical Risk Management, 2020 Nicola Specchio, Nicola Pietrafusa, Marina Trivisano Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyCorrespondence: Nicola SpecchioDepartment of Neuroscience, Bambino Ges ...
Specchio N, Pietrafusa N, Trivisano M
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Non-invasive assessment of retinal alterations in mouse models of infantile and juvenile neuronal ceroid lipofuscinosis by spectral domain optical coherence tomography [PDF]
, 2014 core +1 more source
Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus. [PDF]
Mol Genet Metab Rep, 2023 Eto K +4 more
europepmc +1 more source
Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report. [PDF]
World J Clin Cases, 2023 Wang XQ +4 more
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Loss of Depalmitoylation Disrupts Homeostatic Plasticity of AMPARs in a Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis. [PDF]
J Neurosci, 2023 Koster KP +5 more
europepmc +1 more source
Etiology of anxious and fearful behavior in juvenile neuronal ceroid lipofuscinosis (CLN3 disease). [PDF]
Front Psychiatry, 2023 Ostergaard JR.
europepmc +1 more source
Strategies to treat neurodegeneration in neuronal ceroid lipofuscinosis: a view onto the retina. [PDF]
Neural Regen Res, 2023 Bartsch U.
europepmc +1 more source