-
1دورية أكاديمية
المؤلفون: Paulina Felczak, Aleksandra Kuźniar-Pałka, Agnieszka Ługowska, Elżbieta Stawicka, Sylwia Tarka, Hanna Mierzewska
المصدر: Folia Neuropathologica, Vol 62, Iss 1, Pp 21-31 (2024)
مصطلحات موضوعية: neuronal ceroid lipofuscinoses, cln2 disease, mitochondria damage, curvilinear profiles, fingerprint profiles, rectal biopsy, Medicine
وصف الملف: electronic resource
العلاقة: https://www.termedia.pl/A-current-view-of-mitochondria-damage-and-the-diversity-of-lipopigment-inclusions-in-neuronal-ceroid-lipofuscinose-type-2-from-rectal-biopsy,20,52074,1,1.htmlTest; https://doaj.org/toc/1641-4640Test; https://doaj.org/toc/1509-572XTest
-
2دورية أكاديمية
المؤلفون: Cotolea, Adnana
مصطلحات موضوعية: CLN, CLN2, boala Batten, boala Jansky-Bielschowsky, epilepsy, Brineura, Romania, Batten disease, Jansky-Bielschowsky disease, epilepsie, România
-
3دورية أكاديمية
المؤلفون: Mole, Sara E, Schulz, Angela, Badoe, Eben, Berkovic, Samuel F, de Los Reyes, Emily C, Dulz, Simon, Gissen, Paul, Guelbert, Norberto, Lourenco, Charles M, Mason, Heather L, Mink, Jonathan W, Murphy, Noreen, Nickel, Miriam, Olaya, Joffre E, Scarpa, Maurizio, Scheffer, Ingrid E, Simonati, Alessandro, Specchio, Nicola, Von Löbbecke, Ina, Wang, Raymond Y, Williams, Ruth E
المصدر: Orphanet Journal of Rare Diseases. 16(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Brain Disorders, Neurodegenerative, Neurosciences, Clinical Research, 7.3 Management and decision making, Management of diseases and conditions, Good Health and Well Being, Consensus, Humans, Neuronal Ceroid-Lipofuscinoses, Tripeptidyl-Peptidase 1, Expert mapping, Guideline development program, CLN2, Batten, Neurodegenerative disorder, Key Opinion Leader, Modified-Delphi, Other Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1q46m0ftTest
-
4دورية أكاديمية
المؤلفون: Wibbeler, Eva, Wang, Raymond, de los Reyes, Emily, Specchio, Nicola, Gissen, Paul, Guelbert, Norberto, Nickel, Miriam, Schwering, Christoph, Lehwald, Lenora, Trivisano, Marina, Lee, Laura, Amato, Gianni, Cohen-Pfeffer, Jessica, Shediac, Renée, Leal-Pardinas, Fernanda, Schulz, Angela
المصدر: Journal of Child Neurology. 36(6)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Genetics, Neurodegenerative, Aging, Orphan Drug, Neurological, Child, Child, Preschool, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Female, Follow-Up Studies, Humans, Internationality, Male, Neuronal Ceroid-Lipofuscinoses, Recombinant Proteins, Retrospective Studies, Treatment Outcome, neuronal ceroid lipofuscinosis type 2, late infantile neuronal ceroid lipofuscinosis, CLN2 disease, natural history, atypical, cerliponase alfa, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/66g4w681Test
-
5دورية أكاديمية
المؤلفون: Nickel, Miriam, Gissen, Paul, Greenaway, Rebecca, Cappelletti, Simona, Hamborg, Christiane, Ragni, Benedetta, Ribitzki, Tanja, Schulz, Angela, Tondo, Ilaria, Specchio, Nicola
المصدر: Neuropediatrics (2023) (In press).
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Pediatrics, Neurosciences & Neurology, CLN2 disease, neuronal ceroid lipofuscinosis, language development, enzyme replacement therapy, cerliponase alfa
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173923/1/s-0043-1770143.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173923Test/
-
6دورية أكاديمية
المؤلفون: Sivananthan, Siyamini, Lee, Laura, Anderson, Glenn, Csanyi, Barbara, Williams, Ruth, Gissen, Paul
المصدر: Brain Sciences , 13 (2) , Article 209. (2023)
مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2 (CLN2) disease, lysosomal storage disorder, intracerebroventricular, enzyme replacement therapy, disease progression, neurodegeneration, biomarker, blood buffy coat, electron microscopy, curvilinear inclusions
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10164444/1/brainsci-13-00209.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10164444Test/
-
7دورية أكاديمية
المؤلفون: Siyamini Sivananthan, Laura Lee, Glenn Anderson, Barbara Csanyi, Ruth Williams, Paul Gissen
المصدر: Brain Sciences; Volume 13; Issue 2; Pages: 209
مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2 (CLN2) disease, lysosomal storage disorder, intracerebroventricular, enzyme replacement therapy, disease progression, neurodegeneration, biomarker, blood buffy coat, electron microscopy, curvilinear inclusions
وصف الملف: application/pdf
-
8دورية أكاديمية
المؤلفون: Amanda Mortensen, Eva M. Raebel, Samantha Wiseman
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)
مصطلحات موضوعية: Neuronal ceroid lipofuscinosis type 2 (CLN2), COVID-19, Cerliponase alfa, Managed access agreement, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
-
9دورية أكاديمية
المؤلفون: Sui-Bing Miao, Hui Guo, De-Xian Kong, Yuan-Yuan Zhao, Shu-Hong Pan, Yan Jiang, Xing Gao, Xiao-Hua Wu
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2 (CLN2), tripeptidyl peptidase I (TPP1), variant, molecular analysis, splicing assay, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.937485/fullTest; https://doaj.org/toc/1664-8021Test
-
10دورية أكاديمية
المؤلفون: Karan Choudhary, Ziv Itzkovich, Elisa Alonso-Perez, Hend Bishara, Barbara Dunn, Gavin Sherlock, Martin Kupiec
المصدر: mBio, Vol 13, Iss 4 (2022)
مصطلحات موضوعية: DNA replication, sister chromatid cohesion, cohesin, ELG1, PCNA and PDS5, Cln2, Microbiology, QR1-502
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2150-7511Test