المؤلفون: Rajech Sharkia, Abdelnaser Zalan, Hazar Zahalka, Amit Kessel, Ayman Asaly, Wasif Al-Shareef, Muhammad Mahajnah

المصدر: Genes; Volume 13; Issue 8; Pages: 1393

مصطلحات موضوعية: neuronal ceroid lipofuscinoses (NCL), CLN8 disease, CLN8 gene, compound heterozygous variant, neurodegenerative disease, bioinformatic analyses

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13081393Test

الإتاحة: https://doi.org/10.3390/genes13081393Test

المؤلفون: Rajech Sharkia, Abdelnaser Zalan, Hazar Zahalka, Amit Kessel, Ayman Asaly, Wasif Al-Shareef, Muhammad Mahajnah

المصدر: Genes, Vol 13, Iss 8, p 1393 (2022)

مصطلحات موضوعية: neuronal ceroid lipofuscinoses (NCL), CLN8 disease, CLN8 gene, compound heterozygous variant, neurodegenerative disease, bioinformatic analyses, Genetics, QH426-470

العلاقة: https://www.mdpi.com/2073-4425/13/8/1393Test; https://doaj.org/toc/2073-4425Test; https://doaj.org/article/c188011390e347419ecebcaddd31bfa8Test

الإتاحة: https://doi.org/10.3390/genes13081393Test
https://doaj.org/article/c188011390e347419ecebcaddd31bfa8Test

المؤلفون: Guillermo Guelbert, Ana Clara Venier, Ines Adriana Cismondi, Adriana Becerra, Juan Carlos Vazquez, Elmer Andrés Fernández, Ana Lucía De Paul, Norberto Guelbert, Ines Noher, Favio Pesaola

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: neuronal ceroid lipofuscinoses (NCL), South America-Caribbean, epidemiology, genotype, phenotype, Neurology. Diseases of the nervous system, RC346-429

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.920421/fullTest; https://doaj.org/toc/1664-2295Test; https://doaj.org/article/10be526a07204d988321d4c2cf54b85fTest

الإتاحة: https://doi.org/10.3389/fneur.2022.920421Test
https://doaj.org/article/10be526a07204d988321d4c2cf54b85fTest

المؤلفون: Yoshii, Akira, Green, William N.

المصدر: Yoshii, A., & Green, W. N. (2020). Editorial: role of protein palmitoylation in synaptic plasticity and neuronal differentiation. Frontiers in Synaptic Neuroscience, 12(27). ; doi:10.3389/fnsyn.2020.00027

مصطلحات موضوعية: palmitoylation and depalmitoylation, synaptic plasticity, axonal growth, lysosome, neurodegenerative disease, neuronal ceroid lipofuscinoses (NCL), Huntington disease

العلاقة: https://doi.org/10.3389/fnsyn.2020.00027Test; Yoshii, A., & Green, W. N. (2020). Editorial: role of protein palmitoylation in synaptic plasticity and neuronal differentiation. Frontiers in Synaptic Neuroscience, 12(27).; https://hdl.handle.net/1912/26269Test

الإتاحة: https://doi.org/10.3389/fnsyn.2020.00027Test
https://hdl.handle.net/1912/26269Test

المؤلفون: Akira Yoshii, William N. Green

المصدر: Frontiers in Synaptic Neuroscience, Vol 12 (2020)

مصطلحات موضوعية: palmitoylation and depalmitoylation, synaptic plasticity, axonal growth, lysosome, neurodegenerative disease, neuronal ceroid lipofuscinoses (NCL), Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

العلاقة: https://www.frontiersin.org/article/10.3389/fnsyn.2020.00027/fullTest; https://doaj.org/toc/1663-3563Test; https://doaj.org/article/7c09bec816fe4bde97e9634ab82b6809Test

الإتاحة: https://doi.org/10.3389/fnsyn.2020.00027Test
https://doaj.org/article/7c09bec816fe4bde97e9634ab82b6809Test

المؤلفون: Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Dhairya Pancholi, Mahesh Kamate, Neerja Gupta, Madhulika Kabra, Sanjiv Mehta, Sheela Nampoothiri, Arpita Thakker, Vivek Jain, Raju Shah, Frenny Sheth

المصدر: BMC Neurology, Vol 18, Iss 1, Pp 1-11 (2018)

مصطلحات موضوعية: PPT1, TPP1, Batten disease, Neuronal ceroid lipofuscinoses (NCL), Neurology. Diseases of the nervous system, RC346-429

العلاقة: http://link.springer.com/article/10.1186/s12883-018-1206-1Test; https://doaj.org/toc/1471-2377Test; https://doaj.org/article/39d0aef7f282426a9dfba22c88c24b55Test

الإتاحة: https://doi.org/10.1186/s12883-018-1206-1Test
https://doaj.org/article/39d0aef7f282426a9dfba22c88c24b55Test

المؤلفون: Guillermo Guelbert, Ana Clara Venier, Ines Adriana Cismondi, Adriana Becerra, Juan Carlos Vazquez, Elmer Andrés Fernández, Ana Lucía De Paul, Norberto Guelbert, Ines Noher, Favio Pesaola

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, neuronal ceroid lipofuscinoses (NCL), South America-Caribbean, epidemiology, genotype, phenotype

العلاقة: https://figshare.com/articles/figure/Image_1_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_TIF/20478969Test

الإتاحة: https://doi.org/10.3389/fneur.2022.920421.s002Test
https://figshare.com/articles/figure/Image_1_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_TIF/20478969Test

المؤلفون: Guillermo Guelbert, Ana Clara Venier, Ines Adriana Cismondi, Adriana Becerra, Juan Carlos Vazquez, Elmer Andrés Fernández, Ana Lucía De Paul, Norberto Guelbert, Ines Noher, Favio Pesaola

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, neuronal ceroid lipofuscinoses (NCL), South America-Caribbean, epidemiology, genotype, phenotype

العلاقة: https://figshare.com/articles/figure/Image_3_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_TIF/20478975Test

الإتاحة: https://doi.org/10.3389/fneur.2022.920421.s004Test
https://figshare.com/articles/figure/Image_3_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_TIF/20478975Test

المؤلفون: Guillermo Guelbert, Ana Clara Venier, Ines Adriana Cismondi, Adriana Becerra, Juan Carlos Vazquez, Elmer Andrés Fernández, Ana Lucía De Paul, Norberto Guelbert, Ines Noher, Favio Pesaola

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, neuronal ceroid lipofuscinoses (NCL), South America-Caribbean, epidemiology, genotype, phenotype

العلاقة: https://figshare.com/articles/figure/Image_2_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_TIF/20478972Test

الإتاحة: https://doi.org/10.3389/fneur.2022.920421.s003Test
https://figshare.com/articles/figure/Image_2_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_TIF/20478972Test

المؤلفون: Guillermo Guelbert, Ana Clara Venier, Ines Adriana Cismondi, Adriana Becerra, Juan Carlos Vazquez, Elmer Andrés Fernández, Ana Lucía De Paul, Norberto Guelbert, Ines Noher, Favio Pesaola

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, neuronal ceroid lipofuscinoses (NCL), South America-Caribbean, epidemiology, genotype, phenotype

العلاقة: https://figshare.com/articles/dataset/Table_1_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_XLSX/20478990Test

الإتاحة: https://doi.org/10.3389/fneur.2022.920421.s006Test
https://figshare.com/articles/dataset/Table_1_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_XLSX/20478990Test