المؤلفون: Dapeng Cai, Haohao Wu, Baogang Huang, Weiwei Xiao, Kang Du

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: PLA2G6, early-onset parkinsonism, cerebellar atrophy, hot spot mutation, heterogeneity, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1349861/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/06b253638af246caa56a7fce1df50a4cTest

المؤلفون: Carlotta Spagnoli, carlo fusco, Francesco PISANI

المساهمون: Spagnoli, Carlotta, Fusco, Carlo, Pisani, Francesco

مصطلحات موضوعية: early-onset Parkinsonism, epilepsy, genetic, developmental and epileptic encephalopathies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36835207; info:eu-repo/semantics/altIdentifier/wos/WOS:000945025300001; volume:24; issue:4; firstpage:3796; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11573/1670295Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149052994

الإتاحة: https://doi.org/10.3390/ijms24043796Test
https://hdl.handle.net/11573/1670295Test

المؤلفون: Chen Chen, Min-Min Lou, Yi-Min Sun, Fang Luo, Feng-Tao Liu, Su-Shan Luo, Wen-Yuan Wang, Jian Wang

المصدر: Frontiers in Neuroscience, Vol 16 (2022)

مصطلحات موضوعية: PLA2G6, metabolomics, early-onset parkinsonism, long chain fatty acids, serum biomarkers, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnins.2022.879548/fullTest; https://doaj.org/toc/1662-453XTest

الوصول الحر: https://doaj.org/article/9e5ae1f8fe7847e98139a8dc746699bdTest

المؤلفون: Skorvanek, Matej, Rektorova, Irena, Mandemakers, Wim, Wagner, Matias, Steinfeld, Robert, Orec, Laura, Han, Vladimir, Pavelekova, Petra, Lackova, Alexandra, Kulcsarova, Kristina, Ostrozovicova, Miriam, Gdovinova, Zuzana, Plecko, Barbara, Brunet, Theresa, Berutti, Riccardo, Kuipers, Demy J. S., Boumeester, Valerie, Havrankova, Petra, Tijssen, M. A. J., Kaiyrzhanov, Rauan, Rizig, Mie, Houlden, Henry, Winkelmann, Juliane, Bonifati, Vincenzo, Zech, Michael, Jech, Robert

المصدر: Skorvanek , M , Rektorova , I , Mandemakers , W , Wagner , M , Steinfeld , R , Orec , L , Han , V , Pavelekova , P , Lackova , A , Kulcsarova , K , Ostrozovicova , M , Gdovinova , Z , Plecko , B , Brunet , T , Berutti , R , Kuipers , D J S , Boumeester , V , Havrankova , P , Tijssen , M A J , Kaiyrzhanov , R , Rizig , M , Houlden , H , Winkelmann , J , Bonifati , V ....

مصطلحات موضوعية: WARS2, Early onset parkinsonism, Progressive myoclonus ataxia, Whole exome sequencing, TRANSFER-RNA SYNTHETASE, VARIANTS, DYSTONIA

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/735707da-c475-4a97-993a-a73c391ebb02Test

الإتاحة: https://doi.org/10.1016/j.parkreldis.2021.11.030Test
https://hdl.handle.net/11370/735707da-c475-4a97-993a-a73c391ebb02Test
https://research.rug.nl/en/publications/735707da-c475-4a97-993a-a73c391ebb02Test
https://pure.rug.nl/ws/files/209874623/1_s2.0_S1353802021004375_main.pdfTest

المؤلفون: Yung-Tsai Chu, Han-Yi Lin, Pei-Lung Chen, Chin-Hsien Lin

المصدر: BMC Neurology, Vol 20, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: PLA2G6, Dystonia-parkinsonism, Early-onset parkinsonism, Hereditary spastic paraparesis, Ataxia, PLA2G6-associated neurodegeneration, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12883-020-01684-6Test; https://doaj.org/toc/1471-2377Test

الوصول الحر: https://doaj.org/article/d3d809cc09e942bba8c58746441f491aTest

المؤلفون: Daniele Guadagnolo, Maria Piane, Maria Rosaria Torrisi, Antonio Pizzuti, Simona Petrucci

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: Parkinson's disease, phenotype, monogenic, early onset parkinsonism, Juvenile parkinsonism, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.648588/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/f16ede12f3734c008c19d28300eddc54Test

المؤلفون: Suzanne Lesage, Graziella Mangone, Christelle Tesson, Hélène Bertrand, Mustapha Benmahdjoub, Selma Kesraoui, Mohamed Arezki, Andrew Singleton, Jean-Christophe Corvol, Alexis Brice

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: Parkinson's disease, SYNJ1, autosomal recessive inheritance, early-onset parkinsonism, atypical Parkinson's disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.648457/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/3192991556b54f2d86a73c02e4800b12Test

المؤلفون: Bhatia, KP, Cociasu, I, Sorbera, C, Tuttolomondo, A, Morgante, F, Friedman, J

المصدر: Movement Disorders Clinical Practice , 8 (S1) S35-S36. (2021)

مصطلحات موضوعية: Anderson-Fabry disease, early onset parkinsonism, lysosomal storage diseases, levodopa response

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10135459/1/ANDERSON%20FABRY%20DISEASE%20%20A%20RARE%20CAUSE%20OF%20LEVODOPARESPONSIVE.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10135459Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10135459/1/ANDERSON%20FABRY%20DISEASE%20%20A%20RARE%20CAUSE%20OF%20LEVODOPARESPONSIVE.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10135459Test/

المؤلفون: Lesage, Suzanne, Mangone, Graziella, Tesson, Christelle, Bertrand, Hélène, Benmahdjoub, Mustapha, Kesraoui, Selma, Arezki, Mohamed, Singleton, Andrew, Corvol, Jean-Christophe, Brice, Alexis

المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre d'investigation clinique Neurosciences CHU Pitié Salpêtrière (CIC Neurosciences), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalo-Universitaire de Blida (CHU Blida), National Institutes of Health Bethesda, MD, USA (NIH)

المصدر: ISSN: 1664-2295 ; Frontiers in Neurology ; https://hal.sorbonne-universite.fr/hal-03197937Test ; Frontiers in Neurology, 2021, 12, pp.648457. ⟨10.3389/fneur.2021.648457⟩.

مصطلحات موضوعية: Parkinson's disease, SYNJ1, autosomal recessive inheritance, early-onset parkinsonism, atypical Parkinson's disease, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33841314; hal-03197937; https://hal.sorbonne-universite.fr/hal-03197937Test; https://hal.sorbonne-universite.fr/hal-03197937/documentTest; https://hal.sorbonne-universite.fr/hal-03197937/file/fneur-12-648457.pdfTest; PUBMED: 33841314; PUBMEDCENTRAL: PMC8027075

الإتاحة: https://doi.org/10.3389/fneur.2021.648457Test
https://hal.sorbonne-universite.fr/hal-03197937Test
https://hal.sorbonne-universite.fr/hal-03197937/documentTest
https://hal.sorbonne-universite.fr/hal-03197937/file/fneur-12-648457.pdfTest

المؤلفون: DEPIERREUX, Frédérique

المساهمون: ULiège - University of Liege, sponsor, MERZ Benelux, sponsor

مصطلحات موضوعية: Pediatric movement misorders, Hyperkinetic diseases in Children, Dystonia in children, Botulinum toxin, GPi DBS in dystonia, Early onset parkinsonism, Mouvements normaux pédiatriques, Maladies hyperkinétiques de l'enfant, Dystonies de l'enfant, Toxine botulique, Stimulation cérébrale profonde du GPi dans la dystonie, Parkinsonismes précoces, Human health sciences :: Neurology, Sciences de la santé humaine :: Neurologie

جغرافية الموضوع: national

العلاقة: Workshop - Mouvements Anormaux Pédiatriques, Liège, Belgium (7 mars 2020)

الوصول الحر: https://orbi.uliege.be/handle/2268/245898Test