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Mutations in dynein link motor neuron degeneration to defects in retrograde transport.
Hafezparast M, Klocke R, Ruhrberg C, Marquardt A, Ahmad-Annuar A, Bowen S, Lalli G, Witherden AS, Hummerich H, Nicholson S, Morgan PJ, Oozageer R, Priestley JV, Averill S, King VR, Ball S, Peters J, Toda T, Yamamoto A, Hiraoka Y, Augustin M, Korthaus D, Wattler S, Wabnitz P, Dickneite C, Lampel S, Boehme F, Peraus G, Popp A, Rudelius M, Schlegel J, Fuchs H, Hrabe de Angelis M, Schiavo G, Shima DT, Russ AP, Stumm G, Martin JE, Fisher EM. Hafezparast M, et al. Among authors: martin je. Science. 2003 May 2;300(5620):808-12. doi: 10.1126/science.1083129. Science. 2003. PMID: 12730604
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: martin je. 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
Paradigms for the identification of new genes in motor neuron degeneration.
Hafezparast M, Ahmad-Annuar A, Hummerich H, Shah P, Ford M, Baker C, Bowen S, Martin JE, Fisher EM. Hafezparast M, et al. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Dec;4(4):249-57. doi: 10.1080/14660820310016084. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003. PMID: 14753659
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
Achilli F, Bros-Facer V, Williams HP, Banks GT, AlQatari M, Chia R, Tucci V, Groves M, Nickols CD, Seburn KL, Kendall R, Cader MZ, Talbot K, van Minnen J, Burgess RW, Brandner S, Martin JE, Koltzenburg M, Greensmith L, Nolan PM, Fisher EM. Achilli F, et al. Among authors: martin je. Dis Model Mech. 2009 Jul-Aug;2(7-8):359-73. doi: 10.1242/dmm.002527. Epub 2009 May 26. Dis Model Mech. 2009. PMID: 19470612 Free PMC article.
The phagocytic capacity of neurones.
Bowen S, Ateh DD, Deinhardt K, Bird MM, Price KM, Baker CS, Robson JC, Swash M, Shamsuddin W, Kawar S, El-Tawil T, Roos J, Hoyle A, Nickols CD, Knowles CH, Pullen AH, Luthert PJ, Weller RO, Hafezparast M, Franklin RJ, Revesz T, King RH, Berninghausen O, Fisher EM, Schiavo G, Martin JE. Bowen S, et al. Among authors: martin je. Eur J Neurosci. 2007 May;25(10):2947-55. doi: 10.1111/j.1460-9568.2007.05554.x. Eur J Neurosci. 2007. PMID: 17561810
A new mouse mutant, skijumper.
Hafezparast M, Ball S, Nicholson SJ, Witherden A, Arac D, Broadway N, Saggerson D, Cooper E, Naase M, Gokhale S, Quant P, Lascelles C, Nickols C, Baker CS, Peters J, Martin JE, Fisher EM. Hafezparast M, et al. Among authors: martin je. Mamm Genome. 2002 Jul;13(7):359-364. doi: 10.1007/pl00021068. Mamm Genome. 2002. PMID: 12152619
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