المؤلفون: Chen, Boli, Liu, Yue, Cai, Naiqing, Wang, Ning, Yang, Kang^{Aff1, IDs10072024075795_cor5}

المصدر: Neurological Sciences. 45(9):4597-4600

المؤلفون: Smith, Denise M.^{Aff1, Aff2, Aff3}, Aggarwal, Geetika^{Aff1, Aff2, Aff3}, Niehoff, Michael L.^{Aff1, Aff4}, Jones, Spencer A.^{Aff1, Aff2, Aff3}, Banerjee, Subhashis^{Aff1, Aff2, Aff3}, Farr, Susan A.^{Aff1, Aff2, Aff3, Aff4}, Nguyen, Andrew D.^{Aff1, Aff2, Aff3, IDs12035024041909_cor7}

المصدر: Molecular Neurobiology. :1-15

المؤلفون: K, Priyanka, Madhana, Priya N, Eswaramoorthy, Rajalakshmanan, Ramasamy, Magesh^{Aff1, IDs11011024013418_cor4}

المصدر: Metabolic Brain Disease. 39(4):545-558

المؤلفون: Bellamy, Kim K. L., Skedsmo, Fredrik S., Hultman, Josefin, Jansen, Johan Høgset, Lingaas, Frode

المصدر: Animal Genetics; Aug2024, Vol. 55 Issue 4, p612-620, 9p

مصطلحات موضوعية: NEURONAL ceroid-lipofuscinosis, MISSENSE mutation, DOGS, LYSOSOMAL storage diseases, WHOLE genome sequencing, CENTRAL nervous system, DYSPLASIA

مصطلحات جغرافية: SUDAN

المؤلفون: Christen, Matthias, Gregor, Katharina M., Böttcher‐Künneke, Ariane, Lombardo, Mara S., Baumgärtner, Wolfgang, Jagannathan, Vidhya, Puff, Christina, Leeb, Tosso

المصدر: Animal Genetics; Aug2024, Vol. 55 Issue 4, p588-598, 11p

مصطلحات موضوعية: NEURONAL ceroid-lipofuscinosis, RABBITS, RABBIT diseases, CHROMOSOME duplication, HISTOPATHOLOGY, BONE regeneration, EUROPEAN rabbit, PLANT chromosomes

مصطلحات جغرافية: SUDAN

المؤلفون: Mhlanga-Mutangadura, Tendai, Bullock, Garrett, Cerda-Gonzalez, Sofia, Katz, Martin L.

المصدر: Genes; Jun2024, Vol. 15 Issue 6, p661, 21p

مصطلحات موضوعية: NEURONAL ceroid-lipofuscinosis, WHOLE genome sequencing, DOGS, ADENOSINE triphosphatase, ANIMAL diseases, OXYGEN consumption

المؤلفون: Nataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, Rodolfo Tonin, Svitlana Kormoz, Iryna Hregul, Nataliia Samonenko, Tetiana Shklyarskaya, Volodymyr Olkhovych, Olexandr Buryak, Amelia Morrone, Nataliia Gorovenko

المصدر: JIMD Reports, Vol 65, Iss 4, Pp 272-279 (2024)

مصطلحات موضوعية: genotype–phenotype correlation, neuronal ceroid lipofuscinosis type 2, TPP1 enzyme deficiency, TPP1 gene, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/f61fe51db3314df292863543e663df7c

المؤلفون: Gammaldi, N.^{Aff1, Aff2}, Doccini, S.^{Aff2, IDs10048023007393_cor2}, Bernardi, S.^{Aff2, Aff3}, Marchese, M., Cecchini, M.^{Aff4, Aff5}, Ceravolo, R., Rapposelli, S., Ratto, GM., Rocchiccioli, S., Pezzini, F., Santorelli, F. M.

المصدر: neurogenetics. 25(1):39-46

المؤلفون: Angela Schulz, Nita Patel, Jon J. Brudvig, Frank Stehr, Jill M. Weimer, Erika F. Augustine

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Neuronal ceroid lipofuscinosis, Batten disease, Rare disease, Lysosomal storage disease, Juvenile NCL, Dementia, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/add1cc127d6140539d5ad59353d974ac

المؤلفون: Reith, Rachel R., Batt, Mackenzie C., Fuller, Anna M., Meekins, Jessica M., Diehl, Kathryn A., Zhou, You, Bedwell, Patrick S., Ward, Jack A., Sanders, Stacy K., Petersen, Jessica L., Steffen, David J.

المصدر: Journal of Veterinary Diagnostic Investigation; May2024, Vol. 36 Issue 3, p438-446, 9p

مصطلحات موضوعية: HEREFORD cattle, RETINAL degeneration, NEURONAL ceroid-lipofuscinosis, WHOLE genome sequencing, FRAMESHIFT mutation, PATHOLOGIC neovascularization, RECESSIVE genes