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Cocost\u00eerc V, Pa\u0219tiu AI, Pusta DL.  2023. An overview of canine inherited neurological disorders with known causal variants. <i>Animals (Basel)<\/i> 13: 3568.","DOI":"10.3390\/ani13223568"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Diekmann S, Henneke M, Burckhardt BC, G\u00e4rtner J.  2010. Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction. <i>Eur J Hum Genet<\/i> 18: 985\u2013992.","DOI":"10.1038\/ejhg.2010.61"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Ellegren H.  2004. Microsatellites: simple sequences with complex evolution. <i>Nat Rev Genet<\/i> 5: 435\u2013445.","DOI":"10.1038\/nrg1348"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Flores-Obando RE, Freidin MM, Hern\u00e1ndez AI, Abrams CK.  2022. Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease. <i>Mol Cell Neurosci<\/i> 120: 103716.","DOI":"10.1016\/j.mcn.2022.103716"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Kiktev DA, Sheng Z, Lobachev KS, Petes TD.  2018. GC content elevates mutation and recombination rates in the yeast <i>Saccharomyces cerevisiae<\/i>. <i>Proc Natl Acad Sci USA<\/i> 115: E7109\u2013E7118.","DOI":"10.1073\/pnas.1807334115"},{"key":"6","unstructured":"6. Lampert PW.  1978. Autoimmune and virus-induced demyelinating diseases. A review. <i>Am J Pathol<\/i> 91: 176\u2013208."},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Li FY, Cuddon PA, Song J, Wood SL, Patterson JS, Shelton GD, Duncan ID.  2006. Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b. <i>Neurobiol Dis<\/i> 21: 35\u201342.","DOI":"10.1016\/j.nbd.2005.06.009"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Lindblad-Toh K, Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, Kamal M, Clamp M, Chang JL, Kulbokas EJ 3rd, Zody MC, Mauceli E, Xie X, Breen M, Wayne RK, Ostrander EA, Ponting CP, Galibert F, Smith DR, DeJong PJ, Kirkness E, Alvarez P, Biagi T, Brockman W, Butler J, Chin CW, Cook A, Cuff J, Daly MJ, DeCaprio D, Gnerre S, Grabherr M, Kellis M, Kleber M, Bardeleben C, Goodstadt L, Heger A, Hitte C, Kim L, Koepfli KP, Parker HG, Pollinger JP, Searle SM, Sutter NB, Thomas R, Webber C, Baldwin J, Abebe A, Abouelleil A, Aftuck L, Ait-Zahra M, Aldredge T, Allen N, An P, Anderson S, Antoine C, Arachchi H, Aslam A, Ayotte L, Bachantsang P, Barry A, Bayul T, Benamara M, Berlin A, Bessette D, Blitshteyn B, Bloom T, Blye J, Boguslavskiy L, Bonnet C, Boukhgalter B, Brown A, Cahill P, Calixte N, Camarata J, Cheshatsang Y, Chu J, Citroen M, Collymore A, Cooke P, Dawoe T, Daza R, Decktor K, DeGray S, Dhargay N, Dooley K, Dooley K, Dorje P, Dorjee K, Dorris L, Duffey N, Dupes A, Egbiremolen O, Elong R, Falk J, Farina A, Faro S, Ferguson D, Ferreira P, Fisher S, FitzGerald M, Foley K, Foley C, Franke A, Friedrich D, Gage D, Garber M, Gearin G, Giannoukos G, Goode T, Goyette A, Graham J, Grandbois E, Gyaltsen K, Hafez N, Hagopian D, Hagos B, Hall J, Healy C, Hegarty R, Honan T, Horn A, Houde N, Hughes L, Hunnicutt L, Husby M, Jester B, Jones C, Kamat A, Kanga B, Kells C, Khazanovich D, Kieu AC, Kisner P, Kumar M, Lance K, Landers T, Lara M, Lee W, Leger JP, Lennon N, Leuper L, LeVine S, Liu J, Liu X, Lokyitsang Y, Lokyitsang T, Lui A, Macdonald J, Major J, Marabella R, Maru K, Matthews C, McDonough S, Mehta T, Meldrim J, Melnikov A, Meneus L, Mihalev A, Mihova T, Miller K, Mittelman R, Mlenga V, Mulrain L, Munson G, Navidi A, Naylor J, Nguyen T, Nguyen N, Nguyen C, Nguyen T, Nicol R, Norbu N, Norbu C, Novod N, Nyima T, Olandt P, O\u2019Neill B, O\u2019Neill K, Osman S, Oyono L, Patti C, Perrin D, Phunkhang P, Pierre F, Priest M, Rachupka A, Raghuraman S, Rameau R, Ray V, Raymond C, Rege F, Rise C, Rogers J, Rogov P, Sahalie J, Settipalli S, Sharpe T, Shea T, Sheehan M, Sherpa N, Shi J, Shih D, Sloan J, Smith C, Sparrow T, Stalker J, Stange-Thomann N, Stavropoulos S, Stone C, Stone S, Sykes S, Tchuinga P, Tenzing P, Tesfaye S, Thoulutsang D, Thoulutsang Y, Topham K, Topping I, Tsamla T, Vassiliev H, Venkataraman V, Vo A, Wangchuk T, Wangdi T, Weiand M, Wilkinson J, Wilson A, Yadav S, Yang S, Yang X, Young G, Yu Q, Zainoun J, Zembek L, Zimmer A, Lander ES.  2005. Genome sequence, comparative analysis and haplotype structure of the domestic dog. <i>Nature<\/i> 438: 803\u2013819.","DOI":"10.1038\/nature04338"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Menichella DM, Goodenough DA, Sirkowski E, Scherer SS, Paul DL.  2003. Connexins are critical for normal myelination in the CNS. <i>J Neurosci<\/i> 23: 5963\u20135973.","DOI":"10.1523\/JNEUROSCI.23-13-05963.2003"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Nadon NL, Duncan ID, Hudson LD.  1990. A point mutation in the proteolipid protein gene of the \u2018shaking pup\u2019 interrupts oligodendrocyte development. <i>Development<\/i> 110: 529\u2013537.","DOI":"10.1242\/dev.110.2.529"},{"key":"11","unstructured":"11. Nahhas N, Conant A, Orthmann-Murphy J, Vanderver A, Hobson G.  2017 Dec 21 [updated 2019 Jan 17]. In: GeneReviews<sup>\u00ae<\/sup> [Internet]. (Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A eds.), University of Washington, Seattle; 1993\u20132025. [accessed on November 08, 2025]."},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Pemberton TJ, Choi S, Mayer JA, Li FY, Gokey N, Svaren J, Safra N, Bannasch DL, Sullivan K, Breuhaus B, Patel PI, Duncan ID.  2014. A mutation in the canine gene encoding folliculin-interacting protein 2 (<i>FNIP2<\/i>) associated with a unique disruption in spinal cord myelination. <i>Glia<\/i> 62: 39\u201351.","DOI":"10.1002\/glia.22582"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Piovesan A, Pelleri MC, Antonaros F, Strippoli P, Caracausi M, Vitale L.  2019. On the length, weight and GC content of the human genome. <i>BMC Res Notes<\/i> 12: 106.","DOI":"10.1186\/s13104-019-4137-z"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. ACMG Laboratory Quality Assurance Committee. 2015. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. <i>Genet Med<\/i> 17: 405\u2013424.","DOI":"10.1038\/gim.2015.30"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Salviati L, Trevisson E, Baldoin MC, Toldo I, Sartori S, Calderone M, Tenconi R, Laverda A.  2007. A novel deletion in the <i>GJA12<\/i> gene causes Pelizaeus-Merzbacher-like disease. <i>Neurogenetics<\/i> 8: 57\u201360.","DOI":"10.1007\/s10048-006-0065-x"},{"key":"16","unstructured":"16. Singh R, Samanta D.  2023. Pelizaeus\u2013Merzbacher disease. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing [accessed on November 08, 2025]."},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. St\u00f6rk T, Nessler J, Anderegg L, H\u00fcnerfauth E, Schmutz I, Jagannathan V, Ky\u00f6stil\u00e4 K, Lohi H, Baumg\u00e4rtner W, Tipold A, Leeb T.  2019. <i>TSEN54<\/i> missense variant in Standard Schnauzers with leukodystrophy. <i>PLoS Genet<\/i> 15: e1008411.","DOI":"10.1371\/journal.pgen.1008411"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Tress O, Maglione M, Zlomuzica A, May D, Dicke N, Degen J, Dere E, Kettenmann H, Hartmann D, Willecke K.  2011. Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans. <i>PLoS Genet<\/i> 7: e1002146.","DOI":"10.1371\/journal.pgen.1002146"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Uhlenberg B, Schuelke M, R\u00fcschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topalo\u011flu H, N\u00fcrnberg P, H\u00fcbner C, Weschke B, G\u00e4rtner J.  2004. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. <i>Am J Hum Genet<\/i> 75: 251\u2013260.","DOI":"10.1086\/422763"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Wolf NI, Cundall M, Rutland P, Rosser E, Surtees R, Benton S, Chong WK, Malcolm S, Ebinger F, Bitner-Glindzicz M, Woodward KJ.  2007. 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