| 1 | KIF1C, SPAX2
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| Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.
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| Yücel-Yılmaz D, Yücesan E, Yalnızoğlu D, Oğuz KK, Sağıroğlu MŞ, Özbek U, Serdaroğlu E, Bilgiç B, Erdem S, İşeri SAU, Hanağası H, Gürvit H, Özgül RK, Dursun A.
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| Brain Dev 40(6):458-464. doi: 10.1016/j.braindev.2018.02.013. Epub 2018 Mar 12.
2018
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| 2 | ARL6IP1, ARSI, ERLIN1, FLRT1, KIF1C, PGAP1, RAB3GAP2, SPAX2, SPG59, SPG60, SPG61, SPG62, SPG66, SPG67, SPG68, SPG69, SPG71, USP8, WDR48, ZFR
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| Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
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| Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG.
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| Science 343(6170):506-511. doi: 10.1126/science.1247363.
2014
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| 3 | KIF1C, SPAX2
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| KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
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| Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S.
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| J Med Genet 51(2):137-42. doi: 10.1136/jmedgenet-2013-102012. Epub 2013 Dec 6.
2014
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| 4 | KIF1C, SPAX2
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| KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
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| Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S.
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| J Med Genet 51(2):137-42. doi: 10.1136/jmedgenet-2013-102012. Epub 2013 Dec 6.
2014
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| 5 | SPAX2
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| A novel locus for autosomal recessive spastic ataxia on chromosome 17p.
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| Bouslam N, Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, Di Giandomenico S, Boland-Auge A, Santorelli FM, Durr A, Brice A, Yahyaoui M, Stevanin G.
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| Hum Genet 121(3-4):413-20. Epub 2007 Feb 2. 2007
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