Clinical implications of genetic advances in Charcot-Marie-Tooth disease
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Published in Nature reviews. Neurology (01.10.2013)
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Published in American journal of human genetics (07.03.2013)
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G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo
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Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients
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The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients
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Published in Acta neuropathologica (01.05.2015)
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Published in International journal of molecular sciences (13.07.2021)
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Published in Cell reports (Cambridge) (27.06.2013)
Published in Cell reports (Cambridge) (27.06.2013)
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Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL
Rutten, Julie W., Dauwerse, Hans G., Gravesteijn, Gido, Belzen, Martine J., Grond, Jeroen, Polke, James M., Bernal‐Quiros, Manuel, Lesnik Oberstein, Saskia A. J.
Published in Annals of clinical and translational neurology (01.11.2016)
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Published in Pneumologie (Stuttgart, Germany) (01.06.2018)
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Nethisinghe, Suran, Lim, Wei N, Ging, Heather, Zeitlberger, Anna, Abeti, Rosella, Pemble, Sally, Sweeney, Mary G, Labrum, Robyn, Cervera, Charisse, Houlden, Henry, Rosser, Elisabeth, Limousin, Patricia, Kennedy, Angus, Lunn, Michael P, Bhatia, Kailash P, Wood, Nicholas W, Hardy, John, Polke, James M, Veneziano, Liana, Brusco, Alfredo, Davis, Mary B, Giunti, Paola
Published in Frontiers in cellular neuroscience (23.11.2018)
Published in Frontiers in cellular neuroscience (23.11.2018)
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