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Diagnostic odyssey of patients with mitochondrial diseaseResults of a survey
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Amyloid- and tau-PET imaging in a familial prion kindred
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Enhancement of cranial nerves, conus medullaris, and nerve roots in POLG mitochondrial disease
Michael Bayat, Yousef Yavarian, Allan Bayat, et al.

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Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH
Ville E. Korhonen, Seppo Helisalmi, Aleksi Jokinen, et al.

December 03, 2018
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Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, et al.

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