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

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/10be526a07204d988321d4c2cf54b85fTest

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: 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

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/39d0aef7f282426a9dfba22c88c24b55Test

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

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/7c09bec816fe4bde97e9634ab82b6809Test

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: 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/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

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/Data_Sheet_1_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_PDF/20478966Test

الإتاحة: https://doi.org/10.3389/fneur.2022.920421.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Neuronal_ceroid_lipofuscinosis_in_the_South_American-Caribbean_region_An_epidemiological_overview_PDF/20478966Test

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

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

مصطلحات موضوعية: Male, 0301 basic medicine, Batten disease, India, Gene mutation, Aminopeptidases, lcsh:RC346-429, Frameshift mutation, PPT1, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Asian People, Neuronal Ceroid-Lipofuscinoses, Gene duplication, Humans, Medicine, Missense mutation, Genetic Testing, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Gene, lcsh:Neurology. Diseases of the nervous system, TPP1, Neuronal ceroid lipofuscinoses (NCL), Genetics, Sanger sequencing, Tripeptidyl-Peptidase 1, business.industry, Infant, Membrane Proteins, General Medicine, medicine.disease, 030104 developmental biology, Child, Preschool, Mutation, symbols, Female, Thiolester Hydrolases, Neurology (clinical), Serine Proteases, business, 030217 neurology & neurosurgery, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ae9410f3e16be2bea18bae1d9bebf9Test
https://doi.org/10.1186/s12883-018-1206-1Test

المؤلفون: Sara E. Mole

المصدر: Brain Pathol

مصطلحات موضوعية: Adult, Disease onset, Batten disease, Adolescent, Biology, Aminopeptidases, Pathology and Forensic Medicine, Disease course, Neuronal Ceroid-Lipofuscinoses, Endopeptidases, medicine, Humans, Age of Onset, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Gene, Genetics, Membrane Glycoproteins, Tripeptidyl-Peptidase 1, General Neuroscience, Infant, Lysosome-Associated Membrane Glycoproteins, Membrane Proteins, Symposium: The Neuronal Ceroid‐lipofuscinoses (Ncl‐a) Group of Lysosomal Diseases Come of Age, Tripeptidyl peptidase I, medicine.disease, CLN3, CLN8, Child, Preschool, Mutation, Thiolester Hydrolases, Neurology (clinical), Serine Proteases, Molecular Chaperones, Peptide Hydrolases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f31f0da56d8c366d76a3736341f5c25Test
https://doi.org/10.1111/j.1750-3639.2004.tb00500.xTest