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Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH. Rinaldi C, et al. Am J Hum Genet. 2012 Dec 7;91(6):1095-102. doi: 10.1016/j.ajhg.2012.10.008. Am J Hum Genet. 2012. PMID: 23217327 Free PMC article.
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.
Renvoisé B, Chang J, Singh R, Yonekawa S, FitzGibbon EJ, Mankodi A, Vanderver A, Schindler A, Toro C, Gahl WA, Mahuran DJ, Blackstone C, Pierson TM. Renvoisé B, et al. Ann Clin Transl Neurol. 2014 Jun 1;1(6):379-389. doi: 10.1002/acn3.64. Ann Clin Transl Neurol. 2014. PMID: 24999486 Free PMC article.
Laing distal myopathy pathologically resembling inclusion body myositis.
Roda RH, Schindler AB, Blackstone C, Mammen AL, Corse AM, Lloyd TE. Roda RH, et al. Among authors: schindler ab. Ann Clin Transl Neurol. 2014 Dec;1(12):1053-8. doi: 10.1002/acn3.140. Epub 2014 Nov 6. Ann Clin Transl Neurol. 2014. PMID: 25574480 Free PMC article.
A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.
Guinto CO, Diarra S, Diallo S, Cissé L, Coulibaly T, Diallo SH, Taméga A, Chen KL, Schindler AB, Bagayoko K, Simaga A, Blackstone C, Fischbeck KH, Landouré G. Guinto CO, et al. Among authors: schindler ab. Ann Clin Transl Neurol. 2017 Mar 21;4(4):272-275. doi: 10.1002/acn3.402. eCollection 2017 Apr. Ann Clin Transl Neurol. 2017. PMID: 28382308 Free PMC article.
SCA8 should not be tested in isolation for ataxia.
Roda RH, Schindler AB, Blackstone C. Roda RH, et al. Among authors: schindler ab. Neurol Genet. 2017 Apr 21;3(3):e150. doi: 10.1212/NXG.0000000000000150. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28451643 Free PMC article. No abstract available.
40 results