PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease.
نویسندگان
چکیده
1 Department of Neurology, Erasmus Medical Centre, 3015 CE Rotterdam, The Netherlands 2 Department of Internal Medicine, Erasmus Medical Centre, 3015 CE Rotterdam, The Netherlands 3 Department of Pathology, VU University Medical Centre, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands 4 Department of Clinical Genetics, Erasmus Medical Centre, 3015 CE Rotterdam, The Netherlands 5 DZNE, German Centre for Neurodegenerative Disease, 72076 Tübingen, Germany 6 Department of Neuropathology, University of Tübingen, 72076 Tübingen, Germany 7 Alzheimer Centre, Neuroscience Campus Amsterdam, 1007 MB Amsterdam, The Netherlands 8 Department of Neurology, Neuroscience Campus Amsterdam, 1007 MB Amsterdam, The Netherlands
منابع مشابه
LETTER TOTHE EDITOR PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease
Sir, We read with great interest the article by Wong et al., 2014 that described a novel hereditary late-onset neurodegenerative disorder. Neuronal intermediate filament inclusion disease (NIFID) is a rare neurodegenerative disorder characterized by an early-onset and heterogeneous phenotypic presentation including frontotemporal dementia, pyramidal and extra-pyramidal signs (Bigio et al., 2003...
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عنوان ژورنال:
- Brain : a journal of neurology
دوره 138 Pt 6 شماره
صفحات -
تاریخ انتشار 2015