A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab–Israeli family

Autor: Abu-Rashid, M., Mahajnah, M., Jaber, L., Kornreich, L., Bar-On, E., Basel-Vanagaite, L., Soffer, D., Koenig, M., Straussberg, R.

Publikováno v: In European Journal of Paediatric Neurology May 2013 17(3):259-264

Seventeen novel mutations that cause profound biotinidase deficiency

Autor: Wolf, B, Jensen, K, Hüner, G, Demirkol, M, Baykal, T, Divry, P, Rolland, M.-O, Perez-Cerdá, C, Ugarte, M, Straussberg, R, Basel-Vanagaite, L, Baumgartner, E.R, Suormala, T, Scholl, S, Das, A.M, Schweitzer, S, Pronicka, E, Sykut-Cegielska, J

Publikováno v: In Molecular Genetics and Metabolism 2002 77(1):108-111

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

Autor: Lee, JYW, Hsu, C-K, Michael, M, Nanda, A, Liu, L, McMillan, Pourreyron, C, Takeichi, T, Tolar, J, Reid, E, Hayday, T, Blumen, SC, Abu-Mouch, S, Straussberg, R, Basel-Vanagaite, L, Barhum, Y, Zouabi, Y, Al-Ajmi, H, Huang, H-Y, Lin, T-C, Akiyama, M, Lee, JYY, McLean, WHI, Simpson, MA, Parsons, M, McGrath, JA

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

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Autor: Basel-Vanagaite, L, Dallapiccola, B, Ramirez-Solis, R, Segref, A, Thiele, H, Edwards, A, Arends, MJ, Miró, X, White, JK, Désir, J, Abramowicz, M, Dentici, ML, Lepri, F, Hofmann, K, Har-Zahav, A, Ryder, E, Karp, NA, Estabel, J, Gerdin, AKB, Podrini, C, Ingham, NJ, Altmüller, J, Nürnberg, G, Frommolt, P, Abdelhak, S, Pasmanik-Chor, M, Konen, O, Kelley, RI, Shohat, M, Nürnberg, P, Flint, J, Steel, KP, Hoppe, T, Kubisch, C, Adams, DJ, Borck, G

Publikováno v: American journal of human genetics, 91 (6
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (6), pp.998-1010. ⟨10.1016/j.ajhg.2012.10.011⟩

Ubiquitination plays a crucial role in neurodevelopment as exemplified by Angelman syndrome, which is caused by genetic alterations of the ubiquitin ligase-encoding UBE3A gene. Although the function of UBE3A has been widely studied, little is known a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2aa46d1eed2d4b93a27ce6bee285a33
https://doi.org/10.1016/j.ajhg.2012.10.011

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