المؤلفون: Julie Rochat, André Blavier, Séverine Ruet, Sophie Vasseur, Angela Puma, Béatrice Desnous, Victor Chan, Emilien Delmont, Shahram Attarian, Raul Juntas Morales, Isabelle Quadrio, Léo Vidoni, Nathalie Bonello-Palot, David Cheillan

المصدر: Genes, Vol 15, Iss 6, p 692 (2024)

مصطلحات موضوعية: sphingolipids, hereditary neuropathy, SPTLC1, molecular genetics, in silico tools, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/6/692Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/fa465a34f426489c99bcff22f97719f9Test

المؤلفون: Chunyu Li, Yanbing Hou, Qianqian Wei, Junyu Lin, Zheng Jiang, Qirui Jiang, Tianmi Yang, Yi Xiao, Jingxuan Huang, Yangfan Cheng, Ruwei Ou, Kuncheng Liu, Xueping Chen, Wei Song, Bi Zhao, Ying Wu, Bei Cao, Yongping Chen, Huifang Shang

المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-6 (2023)

مصطلحات موضوعية: Amyotrophic lateral sclerosis, Rare variant, SPTLC1, SPTLC2, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/66c0b1fdf29e423e845e62bbdc2cd24eTest

المؤلفون: GenYi Qu, Guang Yang, Dan Chen, Cheng Tang, Yong Xu

المصدر: Translational Oncology, Vol 34, Iss , Pp 101699- (2023)

مصطلحات موضوعية: E2F2, Renal cell carcinoma, miR-16–5p, SPTLC1, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1936523323000852Test; https://doaj.org/toc/1936-5233Test

الوصول الحر: https://doaj.org/article/00f22c0234154c8aa6d51f231b9cc520Test

المؤلفون: Lindsey M. Q. Wilson, Sadaf Saba, Jun Li, Lev Prasov, Jason M. L. Miller

المصدر: Genes; Volume 14; Issue 4; Pages: 931

مصطلحات موضوعية: macular telangiectasia type 2 (MacTel2), serine palmitoyltransferase complex 1 (SPTLC1), serine palmitoyltransferase complex 2 (SPTLC2), hereditary sensory and autonomic neuropathy type 1 (HSAN1), ceramides, sphingolipids, deoxyceramides

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14040931Test

الإتاحة: https://doi.org/10.3390/genes14040931Test

المؤلفون: Aparna Ajjarapu, Shawna ME. Feely, Michael E. Shy, Christina Trout, Stephan Zuchner, Steven A. Moore, Katherine D. Mathews

المصدر: Case Reports in Neurology, Pp 1-1 (2023)

مصطلحات موضوعية: juvenile amyotrophic lateral sclerosis, sptlc1, neuromuscular, case report, Neurology. Diseases of the nervous system, RC346-429

العلاقة: https://beta.karger.com/Article/FullText/530974Test; https://doaj.org/toc/1662-680XTest; https://doaj.org/article/3d0bf05c17e4433e9a51434f5dbe929eTest

الإتاحة: https://doi.org/10.1159/000530974Test
https://doaj.org/article/3d0bf05c17e4433e9a51434f5dbe929eTest

المؤلفون: Rochat, Julie, Blavier, André, Ruet, Séverine, Vasseur, Sophie, Puma, Angela, Desnous, Béatrice, Chan, Victor, Delmont, Emilien, Attarian, Shahram, Juntas Morales, Raul, Quadrio, Isabelle, Vidoni, Léo, Bonello-Palot, Nathalie, Cheillan, David

المصدر: Genes (Basel) ; ISSN:2073-4425 ; Volume:15 ; Issue:6

مصطلحات موضوعية: SPTLC1, hereditary neuropathy, in silico tools, molecular genetics, sphingolipids

العلاقة: https://doi.org/10.3390/genes15060692Test; https://pubmed.ncbi.nlm.nih.gov/38927628Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11203308Test/

الإتاحة: https://doi.org/10.3390/genes15060692Test
https://pubmed.ncbi.nlm.nih.gov/38927628Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11203308Test/

المؤلفون: Fiorillo, Chiara, Capodivento, Giovanna, Geroldi, Alessandro, Tozza, Stefano, Moroni, Isabella, Mohassel, Payam, Cataldi, Matteo, Campana, Chiara, Morando, Simone, Panicucci, Chiara, Pedemonte, Marina, Brolatti, Noemi, Siliquini, Sabrina, Traverso, Monica, Baratto, Serena, Debellis, Doriana, Magri, Stefania, Prada, Valeria, Bellone, Emilia, Salpietro, Vincenzo, Donkervoort, Sandra, Gable, Kenneth, Gupta, Sita D, Dunn, Teresa M, Bönnemann, Carsten G, Taroni, Franco, Bruno, Claudio, Schenone, Angelo, Mandich, Paola, Nobbio, Lucilla, Nolano, Maria

المساهمون: Fiorillo, Chiara, Capodivento, Giovanna, Geroldi, Alessandro, Tozza, Stefano, Moroni, Isabella, Mohassel, Payam, Cataldi, Matteo, Campana, Chiara, Morando, Simone, Panicucci, Chiara, Pedemonte, Marina, Brolatti, Noemi, Siliquini, Sabrina, Traverso, Monica, Baratto, Serena, Debellis, Doriana, Magri, Stefania, Prada, Valeria, Bellone, Emilia, Salpietro, Vincenzo, Donkervoort, Sandra, Gable, Kenneth, Gupta, Sita D, Dunn, Teresa M, Bönnemann, Carsten G, Taroni, Franco, Bruno, Claudio, Schenone, Angelo, Mandich, Paola, Nobbio, Lucilla, Nolano, Maria

مصطلحات موضوعية: HSAN, S331, SPTLC1, l-serine, motor neuron, sphingolipids

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35904184; info:eu-repo/semantics/altIdentifier/wos/WOS:000837979900001; volume:29; firstpage:1; lastpage:15; numberofpages:15; journal:NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY; https://hdl.handle.net/11567/1094373Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85135812739

الإتاحة: https://doi.org/10.1111/nan.12842Test
https://hdl.handle.net/11567/1094373Test

المؤلفون: Kölbel, Heike, Kraft, Florian, Hentschel, Andreas, Czech, Artur, Gangfuss, Andrea, Mohassel, Payam, Nguyen, Chi, Stenzel, Werner, Schara-Schmidt, Ulrike, Preuße, Corinna, Roos, Andreas

مصطلحات موضوعية: ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » Zentrum für Kinder- und Jugendmedizin » Klinik für Kinderheilkunde I/Perinatalzentrum, SPTLC1 -- juvenile ALS -- HSAN1A -- proteomic profiling -- serine palmitoyltransferase

العلاقة: https://doi.org/10.3390/genes13050893Test; https://nbn-resolving.org/urn:nbn:de:hbz:465-20220902-123045-5Test; https://duepublico2.uni-due.de/receive/duepublico_mods_00076605Test; https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00076337/genes_2022-13-00893.pdfTest

الإتاحة: https://doi.org/10.3390/genes13050893Test
https://nbn-resolving.org/urn:nbn:de:hbz:465-20220902-123045-5Test
https://duepublico2.uni-due.de/receive/duepublico_mods_00076605Test
https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00076337/genes_2022-13-00893.pdfTest

المؤلفون: Kramarz, Caroline, Rossor, Alexander M

المصدر: Journal of Neurology , 269 (9) pp. 5187-5191. (2022)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, Charcot-Marie-tooth disease, SORD-associated CMT, PMP22 gene silencing, SPTLC1-associated HSN1, ATTR amyloidosis, SENSORY NEUROPATHY, SPTLC1, MODEL

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10177111/1/Neurological%20update%20hereditary%20neuropathies.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10177111Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10177111/1/Neurological%20update%20hereditary%20neuropathies.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10177111Test/

المؤلفون: Gomes Rodrigues, Filipa, Pipis, Menelaos, Heeren, Tjebo FC, Fruttiger, Marcus, Gantner, Mari, Vermeirsch, Sandra, Okada, Mali, Friedlander, Martin, Reilly, Mary M, Egan, Catherine

المصدر: Journal of the Peripheral Nervous System , 27 (3) pp. 215-224. (2022)

مصطلحات موضوعية: HSAN 1, Hereditary Sensory and Autonomic Neuropathies, Macular telangiectasia type 2, SPTLC1 protein, SPTLC2 protein

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10152829/1/J%20Peripheral%20Nervous%20Sys%20-%202022%20-%20Gomes%20Rodrigues.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10152829Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10152829/1/J%20Peripheral%20Nervous%20Sys%20-%202022%20-%20Gomes%20Rodrigues.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10152829Test/