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Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

Publikováno v: Lee, J Y W, Hsu, C K, Michael, M, Nanda, A, Liu, L, McMillan, J R, Pourreyron, C, Takeichi, T, Tolar, J, Reid, E, Hayday, T, Blumen, S C, Abu-Mouch, S, Straussberg, R, Basel-Vanagaite, L, Barhum, Y, Zouabi, Y, Al-Ajmi, H, Huang, H Y, Lin, T C, Akiyama, M, Lee, J Y Y, McLean, W H I, Simpson, M A, Parsons, M & McGrath, J A 2017, ' Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23 ', American Journal of Human Genetics, vol. 100, no. 2, pp. 364-370 . https://doi.org/10.1016/j.ajhg.2017.01.014

SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth followed by further patchy pigment loss during childhood. Previously, genome-wide linkage in an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49a4284259470725b7f5834809ad7a7d
https://www.repository.cam.ac.uk/handle/1810/263193

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Akademický článek

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

Autor: Straussberg R; Neurogenetic Clinic, Neurology Institute, Schneider Children's Medical Center, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Onoufriadis A; St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, King's College London, London, UK., Konen O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Radiology Institute, Schneider Children's Medical Center, Petah Tikva, Israel., Zouabi Y; Neurogenetic Clinic, Neurology Institute, Schneider Children's Medical Center, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Cohen L; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Genetic Institute, Schneider Children's Medical Center, Petah Tikva, Israel., Lee JYW; St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, King's College London, London, UK., Hsu CK; St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, King's College London, London, UK., Simpson MA; Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, London, UK., McGrath JA; St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, King's College London, London, UK.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Nov; Vol. 173 (11), pp. 3109-3113. Date of Electronic Publication: 2017 Sep 08.