-
1دورية أكاديمية
المؤلفون: Murthy, M, Cheng, YY, Holton, JL, Bettencourt, C
المصدر: Neuropathology and Applied Neurobiology , 47 (7) pp. 897-909. (2021)
مصطلحات موضوعية: DNA methylation, EWAS, Movement disorders, biomarkers, brain tissue, epigenetics, epigenomics, neurodegeneration, pathogenesis, therapy
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10132429/7/Bettencourt_Neurodegenerative%20movement%20disorders-%20an%20epigenetics%20perspective%20and%20promise%20for%20the%20future_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10132429Test/
-
2دورية أكاديمية
المؤلفون: Salpietro, V, Perez-Dueñas, B, Nakashima, K, San Antonio-Arce, V, Manole, A, Efthymiou, S, Vandrovcova, J, Bettencourt, C, Mencacci, NE, Klein, C, Kelly, MP, Davies, CH, Kimura, H, Macaya, A, Houlden, H
المصدر: Movement Disorders , 33 (3) pp. 482-488. (2018)
مصطلحات موضوعية: PDE2A, chorea, movement disorders, phosphodiesterase, striatum
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10043417/1/Salpietro_et_al-2018-Movement_Disorders.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10043417Test/
-
3
المؤلفون: Salpietro V, Pérez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H
المصدر: Movement Disorders
MOVEMENT DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: Cyclic Nucleotide Phosphodiesterases, Male, striatum, PDE2A, Messenger, chorea, movement disorders, phosphodiesterase, Animals, Chorea, Cyclic AMP, Cyclic GMP, Cyclic Nucleotide Phosphodiesterases, Type 2, Family Health, Genetic Testing, Humans, Mutation, Phosphoric Diester Hydrolases, RNA, Messenger, Brief Report, RNA, Brief Reports, Type 2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::35e6932131b27ec87b0f3bee455d05f0Test
https://pubmed.ncbi.nlm.nih.gov/29392776Test -
4دورية أكاديميةExome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
المؤلفون: Bettencourt, C.1,2, López‐Sendón, J.L.3, García‐Caldentey, J.3, Rizzu, P.4, Bakker, I.M.C.4, Shomroni, O.4, Quintáns, B.5, Dávila, J.R.6, Bevova, M.R.4, Sobrido, M.‐J.5, Heutink, P.4, de Yébenes, J.G.3
المصدر: Clinical Genetics. Feb2014, Vol. 85 Issue 2, p154-158. 5p.
مصطلحات موضوعية: *FAMILIAL spastic paraplegia, *NEURODEGENERATION, *MOVEMENT disorders, *MOTOR neurons, *MOLECULAR diagnosis, *DIAGNOSIS