التفاصيل البيبلوغرافية
العنوان:
Mutations in DDHD2, Encoding an Intracellular Phospholipase A(1), Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
المؤلفون:
Erik-Jan Kamsteeg , Saskia D. van der Velde-Visser , Michael T. Geraghty , Christian Gilissen , Dirk J. Lefeber , Lihadh Al-Gazali , Joris A. Veltman , Han G. Brunner , Bart P.C. van de Warrenburg , Marinette van der Graaf , Amanda C. Smith , Martin Lammens , Willem M.R. van den Akker , Riad Bayoumi , Salma Ben-Salem , Arjan P.M. de Brouwer , Jeremy Schwartzentruber , Lisenka E.L.M. Vissers , Hans van Bokhoven , Bonnie Nijhof , Michèl A.A.P. Willemsen , Annette Schenck , Anna Castells Nobau , Corrie E. Erasmus , Adinda Diekstra , Bassam R. Ali , Anneke T. Vulto-van Silfhout , Sascha Vermeer , Ron A. Wevers , Irene M. Janssen , Susanne T. de Bot , Saeed Al-Yahyaee , Said Tariq , Peter Humphreys , Thachillath Pramathan , Bert B.A. de Vries , Irene Otte-Höller , Hubertus P. H. Kremer , Ilse I.G.M. van de Vondervoort , Janneke H M Schuurs-Hoeijmakers
المساهمون:
Molecular Neuroscience and Ageing Research (MOLAR)
المصدر:
American Journal of Human Genetics, 91, 6, pp. 1073-81
سنة النشر:
2012
مصطلحات موضوعية:
Central Nervous System , Male , THIN CORPUS-CALLOSUM , INTELLECTUAL DISABILITY , Phospholipase , medicine.disease_cause , PATHWAY , Genotype , Gene Order , Genetics(clinical) , PLASTICITY , Child , Genetics (clinical) , Genetics , Mutation , Functional imaging [IGMD 1] , Phenotype , Magnetic Resonance Imaging , Pedigree , DROSOPHILA , Phospholipases , Child, Preschool , Female , Intracellular , Adult , Adolescent , SEQUENCING DATA , Hereditary spastic paraplegia , DCN MP - Plasticity and memory , Genes, Recessive , Neuroimaging , Biology , KIAA0725P , Genomic disorders and inherited multi-system disorders [IGMD 3] , Young Adult , Translational research [ONCOL 3] , Report , medicine , Humans , TRAFFICKING , Glycostation disorders [DCN PAC - Perception action and control IGMD 4] , DCN NN - Brain networks and neuronal communication , Health aging / healthy living Cardiovascular diseases [IGMD 5] , NEUROMUSCULAR-JUNCTION , Phospholipase A , Base Sequence , Spastic Paraplegia, Hereditary , Facies , Lipid metabolism , Glycostation disorders [IGMD 4] , medicine.disease , Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6] , nervous system diseases , Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6] , MAMMALIAN SEC23P-INTERACTING PROTEIN
الوصف:
Contains fulltext : 108770.pdf (Publisher’s version ) (Closed access) 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 (
وصف الملف:
application/pdf
اللغة:
English
تدمد:
0002-9297
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e6f6a1647a497e7f32c1894d808fadTest https://hdl.handle.net/11370/c11479df-ed8e-482b-82c3-b39478a237f1Test
حقوق:
OPEN
رقم الانضمام:
edsair.doi.dedup.....64e6f6a1647a497e7f32c1894d808fad
قاعدة البيانات:
OpenAIRE
