PMC Links for OMIM (Select 613728) - PMC

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Items: 2

Select item 42216501.

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

Andrea Balreira, Veronika Boczonadi, Emanuele Barca, Angela Pyle, Boglarka Bansagi, Marie Appleton, Claire Graham, Iain P. Hargreaves, Vedrana Milic Rasic, Hanns Lochmüller, Helen Griffin, Robert W. Taylor, Ali Naini, Patrick F. Chinnery, Michio Hirano, Catarina M. Quinzii, Rita Horvath

J Neurol. 2014; 261(11): 2192–2198. Published online 2014 Sep 3. doi: 10.1007/s00415-014-7476-7

PMCID:: PMC4221650

Abstract Article PDF–657K

Select item 29973702.

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

Sascha Vermeer, Alexander Hoischen, Rowdy P.P. Meijer, Christian Gilissen, Kornelia Neveling, Nienke Wieskamp, Arjan de Brouwer, Michel Koenig, Mathieu Anheim, Mirna Assoum, Nathalie Drouot, Slobodanka Todorovic, Vedrana Milic-Rasic, Hanns Lochmüller, Giovanni Stevanin, Cyril Goizet, Albert David, Alexandra Durr, Alexis Brice, Berry Kremer, Bart P.C. van de Warrenburg, Mascha M.V.A.P. Schijvenaars, Angelien Heister, Michael Kwint, Peer Arts, Jenny van der Wijst, Joris Veltman, Erik-Jan Kamsteeg, Hans Scheffer, Nine Knoers

Am J Hum Genet. 2010 Dec 10; 87(6): 813–819. doi: 10.1016/j.ajhg.2010.10.015