دورية أكاديمية
Mutations in DDHD2, Encoding an Intracellular Phospholipase A(1), Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
| العنوان: | Mutations in DDHD2, Encoding an Intracellular Phospholipase A(1), Cause a Recessive Form of Complex Hereditary Spastic Paraplegia |
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| المؤلفون: | Schuurs-Hoeijmakers, Janneke H. M., Geraghty, Michael T., Kamsteeg, Erik-Jan, Ben-Salem, Salma, de Bot, Susanne T., Nijhof, Bonnie, van de Vondervoort, Ilse I. G. M., van der Graaf, Marinette, Nobau, Anna Castells, Otte-Holler, Irene, Vermeer, Sascha, Smith, Amanda C., Humphreys, Peter, Schwartzentruber, Jeremy, Ali, Bassam R., Al-Yahyaee, Saeed A., Tariq, Said, Pramathan, Thachillath, Bayoumi, Riyad, Kremer, Hubertus P. H., van de Warrenburg, Bart P., van den Akker, Willem M. R., Gilissen, Christian, Veltman, Joris A., Janssen, Irene M., Vulto-van Silfhout, Anneke T., van der Velde-Visser, Saskia, Lefeber, Dirk J., Diekstra, Adinda, Eramus, Corrie E., Willemsen, Michel A., Vissers, Lisenka E. L. M., Lammens, Martin, van Bokhoven, Hans, Brunner, Han G., Wevers, Ron A., Schenck, Annette, Al-Gazali, Lihadh, de Vries, Bert B. A., de Brouwer, Arjan P. M. |
| المصدر: | Schuurs-Hoeijmakers , J H M , Geraghty , M T , Kamsteeg , E-J , Ben-Salem , S , de Bot , S T , Nijhof , B , van de Vondervoort , I I G M , van der Graaf , M , Nobau , A C , Otte-Holler , I , Vermeer , S , Smith , A C , Humphreys , P , Schwartzentruber , J , Ali , B R , Al-Yahyaee , S A , Tariq , S , Pramathan , T , Bayoumi , R , Kremer , H P H , van .... |
| سنة النشر: | 2012 |
| المجموعة: | University of Groningen research database |
| مصطلحات موضوعية: | MAMMALIAN SEC23P-INTERACTING PROTEIN, THIN CORPUS-CALLOSUM, INTELLECTUAL DISABILITY, NEUROMUSCULAR-JUNCTION, SEQUENCING DATA, DROSOPHILA, TRAFFICKING, PLASTICITY, KIAA0725P, PATHWAY |
| الوصف: | We report on four families affected by a clinical presentation of complex hereditary spastic paraplegia (HSP) due to recessive mutations in DDHD2, encoding one of the three mammalian intracellular phospholipases A(1) (iPLA(1)). The core phenotype of this HSP syndrome consists of very early-onset ( |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://research.rug.nl/en/publications/c11479df-ed8e-482b-82c3-b39478a237f1Test |
| DOI: | 10.1016/j.ajhg.2012.10.017 |
| الإتاحة: | https://doi.org/10.1016/j.ajhg.2012.10.017Test https://hdl.handle.net/11370/c11479df-ed8e-482b-82c3-b39478a237f1Test https://research.rug.nl/en/publications/c11479df-ed8e-482b-82c3-b39478a237f1Test |
| حقوق: | info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.48536E62 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.ajhg.2012.10.017 |
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