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    Claudia Perandones, Luis Alejandro Pellene, Federcio Micheli, A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure, Movement Disorders, 2014, 29, 1
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    Marsha Zeigler, Vardiella Meiner, J.P. Newman, Bettina Steiner-Birmanns, Ruth Bargal, Vivi Sury, Getu Mengistu, Or Kakhlon, Ina Leykin, Zohar Argov, Oded Abramsky, Alexander Lossos, A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity, Journal of the Neurological Sciences, 2014, 339, 1-2, 210

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