Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
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Published:2017-11-02
Issue:1
Volume:12
Page:
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ISSN:1750-1172
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Container-title:Orphanet Journal of Rare Diseases
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language:en
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Short-container-title:Orphanet J Rare Dis
Author:
Bettencourt ConceiçãoORCID, Salpietro Vincenzo, Efthymiou Stephanie, Chelban Viorica, Hughes Deborah, Pittman Alan M., Federoff Monica, Bourinaris Thomas, Spilioti Martha, Deretzi Georgia, Kalantzakou Triantafyllia, Houlden Henry, Singleton Andrew B., Xiromerisiou Georgia
Funder
Wellcome Trust National Institute on Aging
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Reference21 articles.
1. Bettencourt C, Lopez-Sendon JL, Garcia-Caldentey J, Rizzu P, Bakker IM, Shomroni O, Quintans B, Davila JR, Bevova MR, Sobrido MJ, Heutink P, de Yebenes JG. Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. Clin Genet. 2014;85:154–8. 2. Morgan S, Shoai M, Fratta P, Sidle K, Orrell R, Sweeney MG, Shatunov A, Sproviero W, Jones A, Al-Chalabi A, Malaspina A, Houlden H, Hardy J, Pittman A. Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis. Neurobiol Aging. 1600;2015(36):e1605–8. 3. 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 GM, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, 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. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014;343:506-511. 4. Fink JK. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol. 2013;126:307–28. 5. Tuysuz B, Bilguvar K, Kocer N, Yalcinkaya C, Caglayan O, Gul E, Sahin S, Comu SGunel M. Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features. Am J Med Genet A. 2014;164A:1677–85.
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