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103 results
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Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.
Perez-Rodriguez D, Kalyva M, Leija-Salazar M, Lashley T, Tarabichi M, Chelban V, Gentleman S, Schottlaender L, Franklin H, Vasmatzis G, Houlden H, Schapira AHV, Warner TT, Holton JL, Jaunmuktane Z, Proukakis C. Perez-Rodriguez D, et al. Among authors: proukakis c. Acta Neuropathol Commun. 2019 Dec 23;7(1):219. doi: 10.1186/s40478-019-0873-5. Acta Neuropathol Commun. 2019. PMID: 31870437 Free PMC article.
A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.
Mead SH, Proukakis C, Wood N, Crosby AH, Plant GT, Warner TT. Mead SH, et al. Among authors: proukakis c. J Neurol Neurosurg Psychiatry. 2001 Dec;71(6):788-91. doi: 10.1136/jnnp.71.6.788. J Neurol Neurosurg Psychiatry. 2001. PMID: 11723204 Free PMC article.
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. Patel H, et al. Among authors: proukakis c. Nat Genet. 2002 Aug;31(4):347-8. doi: 10.1038/ng937. Epub 2002 Jul 22. Nat Genet. 2002. PMID: 12134148
No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders.
Ahmad-Annuar A, Shah P, Hafezparast M, Hummerich H, Witherden AS, Morrison KE, Shaw PJ, Kirby J, Warner TT, Crosby A, Proukakis C, Wilkinson P, Orrell RW, Bradley L, Martin JE, Fisher EM. Ahmad-Annuar A, et al. Among authors: proukakis c. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):150-7. doi: 10.1080/14660820310011737. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003. PMID: 13129801
103 results