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Movement Disorders : Official Journal of the Movement Disorder Society|August 22, 2014
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia familyMichael Zech, Florian Castrop, Barbara Schormair, et al.
Neurobiology of Aging|December 21, 2019
SQSTM1/p62 variants in 486 patients with familial ALS from Germany and SwedenRüstem Yilmaz, Kathrin Müller, David Brenner, et al.
Lancet (London, England)|August 2, 2005
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraineMartin Dichgans, Tobias Freilinger, Gertrud Eckstein, et al.
European Journal of Medical Genetics|February 4, 2014
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progressionKatrin Bürk, Frank J Kaiser, Stephanie Tennstedt, et al.
Scientific Reports|September 13, 2016
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processingPedro G Ferreira, Martin Oti, Matthias Barann, et al.
Journal of Neurology|September 27, 2020
A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric strokeElli Katharine Greisenegger, Sara Llufriu, Angel Chamorro, et al.
Nature|February 7, 2004
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2Simone Rost, Andreas Fregin, Vytautas Ivaskevicius, et al.
European Journal of Medical Genetics|March 5, 2013
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotypeMichaela Auer-Grumbach, Heiko Bode, Thomas R Pieber, et al.
BMC Genomics|October 1, 2014
A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping arraySandra Unterseer, Eva Bauer, Georg Haberer, et al.
American Journal of Human Genetics|March 30, 2010
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunctionMargit Schraders, Jaap Oostrik, Patrick L M Huygen, et al.
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