Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease von Lindquist, SG, Duno, M, Batbayli, M, Puschmann, A, Braendgaard, H, Mardosiene, S, Svenstrup, K, Pinborg, LH, Vestergaard, K, Hjermind, LE, Stokholm, J, Andersen, BB, Johannsen, P, Nielsen, JE

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Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy von Ostergaard, E, Batbayli, M, Duno, M, Vilhelmsen, K, Rosenberg, T

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Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation von Lindquist, S. G., Holm, I. E., Schwartz, M., Law, I., Stokholm, J., Batbayli, M., Waldemar, G., Nielsen, J. E.

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Genetic testing in familial AD and FTD: Mutation and phenotype spectrum in a Danish cohort von Lindquist, SG, Schwartz, M, Batbayli, M, Waldemar, G, Nielsen, JE

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A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment von Lindquist, S. G., Hasholt, L., Bahl, J. M. C., Heegaard, N. H. H., Andersen, B. B., Nørremølle, A., Stokholm, J., Schwartz, M., Batbayli, M., Laursen, H., Pardossi-Piquard, R., Chen, F., St George-Hyslop, P., Waldemar, G., Nielsen, J. E.

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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients von Carrozzo, Rosalba, Verrigni, Daniela, Rasmussen, Magnhild, de Coo, Rene, Amartino, Hernan, Bianchi, Marzia, Buhas, Daniela, Mesli, Samir, Naess, Karin, Born, Alfred Peter, Woldseth, Berit, Prontera, Paolo, Batbayli, Mustafa, Ravn, Kirstine, Joensen, Fróði, Cordelli, Duccio M., Santorelli, Filippo Maria, Tulinius, Mar, Darin, Niklas, Duno, Morten, Jouvencel, Philippe, Burlina, Alberto, Stangoni, Gabriela, Bertini, Enrico, Redonnet-Vernhet, Isabelle, Wibrand, Flemming, Dionisi-Vici, Carlo, Uusimaa, Johanna, Vieira, Paivi, Osorio, Andrés Nascimento, McFarland, Robert, Taylor, Robert W., Holme, Elisabeth, Ostergaard, Elsebet

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A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases von Ostergaard, Elsebet, Duno, Morten, Batbayli, Mustafa, Vilhelmsen, Kaj, Rosenberg, Thomas

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Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome von Ostergaard, Elsebet, Rodenburg, Richard J, van den Brand, Mariël, Thomsen, Lise Lykke, Duno, Morten, Batbayli, Mustafa, Wibrand, Flemming, Nijtmans, Leo

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