المؤلفون: Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennifer L, Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E, Gordts, Philip LSM, Esko, Jeffrey D, Buschman, Matthew D, Field, Seth J, Napolitano, Gennaro, Abdel-Salam, Ghada M, Ozgul, R Koksal, Sagıroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G, Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A, Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B, de Lonlay, Pascale, Gleeson, Joseph G

المصدر: Nature Genetics. 47(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Brain Disorders, Clinical Research, Animals, Atrophy, Autophagy, Cerebellar Diseases, Cerebellum, Child, Preschool, Female, Gene Frequency, Humans, Infant, Lod Score, Lysosomal Storage Diseases, Lysosomes, Male, Mutation, Phagosomes, Sorting Nexins, Spinocerebellar Ataxias, Syndrome, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/57n4q5z6Test

المؤلفون: Fares, Hanna, Greenwald, Iva

المصدر: Nature Genetics. May2001, Vol. 28 Issue 1, p64. 5p.

مصطلحات موضوعية: *ENDOCYTOSIS, *LYSOSOMAL storage diseases

المؤلفون: Bargal, Ruth, Avidan, Nili, Ben-Asher, Edna, Olender, Zvia, Zeigler, Marcia, Frumkin, Ayala, Raas-Rothschild, Annick, Glusman, Gustavo, Lancet, Doron, Bach, Gideon

المصدر: Nature Genetics. Sep2000, Vol. 26 Issue 1, p118. 6p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *HUMAN gene mapping, *GENETICS

المؤلفون: Cullinane, Andrew R., Straatman-Iwanowska, Anna, Zaucker, Andreas, Wakabayashi, Yoshiyuki, Bruce, Christopher K., Luo, Guanmei, Rahman, Fatimah, Gürakan, Figen, Utine, Eda, Özkan, Tanju B., Denecke, Jonas, Vukovic, Jurica, Di Rocco, Maja, Mandel, Hanna, Cangul, Hakan, Matthews, Randolph P., Thomas, Steve G., Rappoport, Joshua Z., Arias, Irwin M., Wolburg, Hartwig

المصدر: Nature Genetics; Apr2010, Vol. 42 Issue 4, p303-312, 10p, 2 Diagrams, 1 Chart, 5 Graphs

مصطلحات موضوعية: ARTHROGRYPOSIS, RENAL artery diseases, MEMBRANE proteins, LYSOSOMAL storage diseases, CADHERINS, CELL polarity, LIVER, KIDNEYS

المؤلفون: Simpson, Michael A., Cross, Harold, Proukakis, Christos, Priestman, David A., Neville, David C. A., Reinkensmeier, Gabriele, Heng Wang, Wiznitzer, Max, Gurtz, Kay, Verganelaki, Argyro, Pryde, Anna, Patton, Michael A., Dwek, Raymond A, Butters, Terry D., Platt, Frances M., Crosby, Andrew H.

المصدر: Nature Genetics; Nov2004, Vol. 36 Issue 11, p1225-1229, 5p

مصطلحات موضوعية: EPILEPSY, INFANTILE spasms, GENEALOGY, CHROMOSOMES, GANGLIOSIDES, LYSOSOMAL storage diseases

المؤلفون: Proia, Richard L¹ proia@nih.gov

المصدر: Nature Genetics. Nov2004, Vol. 36 Issue 11, p1147-1148. 2p.

مصطلحات موضوعية: *GANGLIOSIDES, *LYSOSOMAL storage diseases, *GLYCOLIPIDS, *SIALIC acids, *EPILEPSY, *BRAIN

المؤلفون: Keith K. Vaux, Mahmut Şamil Sağıroğlu, Laila Bastaki, Seth J. Field, Pascale de Lonlay, Sawsan Abdel-Hadi, Lihadh Al-Gazali, Hülya Kayserili, Ali Dursun, Jeffrey D. Esko, Eric Scott, Xin Wang, Faezeh Mojahedi, Ashleigh E. Schaffer, R. Köksal Özgül, Iman G. Mahmoud, Isabelle Desguerre, Matthew D. Buschman, Laila Selim, Samia A. Temtamy, Jean-Laurent Casanova, Murat Gunel, Abdelrahim Abdrabou Sadek, Philip L.S.M. Gordts, Brett Copeland, Mona Aglan, Amira Masri, Maha S. Zaki, Joseph G. Gleeson, Matloob Azam, Naiara Akizu, Vincent Cantagrel, Antoinette Gelot, Basak Rosti, Jennifer L. Silhavy, Esra Dikoglu, Ulrich Müller, Amera El Badawy, Gennaro Napolitano, Stacey Gabriel, Rasim Ozgur Rosti, Jana Schroth, Samira Ismail, Ghada M H Abdel-Salam

المساهمون: İç Hastalıkları, Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S., Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K., Scott, Eric M., Silhavy, Jennifer L., Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E., Gordts, Philip L. S. M., Esko, Jeffrey D., Buschman, Matthew D., Field, Seth J., Napolitano, Gennaro, Abdel-Salam, Ghada M., Ozgul, R Koksal, Saglroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G., Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A., Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B., De Lonlay, Pascale, Gleeson, Joseph G.

المصدر: Nature genetics, vol 47, iss 5
Nature genetics

مصطلحات موضوعية: Male, Autophagosome, medicine.disease_cause, Medical and Health Sciences, Lysosomal Storage Disease, Gene Frequency, Cerebellum, Phagosomes, Child, Sorting Nexins, Phagosome, Zebrafish, 2. Zero hunger, Genetics, Mutation, Cerebellar Disease, Syndrome, Biological Sciences, Lysosome, Cell biology, medicine.anatomical_structure, Child, Preschool, Female, Cerebellar atrophy, medicine.symptom, Human, Ataxia, Endosome, Biology, Article, Cerebellar Diseases, Clinical Research, Autophagy, medicine, Animals, Humans, Spinocerebellar Ataxias, Preschool, Spinocerebellar Ataxia, Animal, Sorting Nexin, Infant, Brain Disorders, Lysosomal Storage Diseases, Sorting nexin, Atrophy, Lod Score, Lysosomes, Developmental Biology

وصف الملف: application/pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7fb536aeb87a30e2cdd2ae132af0efTest
https://doi.org/10.1038/ng.3256Test

المؤلفون: Catherine Richard, Lorraine Michaud, Michel Potier, Alexey V. Pshezhetsky, Suleiman A. Igdoura, Shupei Wang, Daniel Leclerc, Roy A. Gravel, Marc-André Elsliger, Louis Dallaire, Jingyi Qu

المصدر: Nature Genetics. 15:316-320

مصطلحات موضوعية: Molecular Sequence Data, Neuraminidase, Sialidase, Polymerase Chain Reaction, Frameshift mutation, NEU2, chemistry.chemical_compound, NEU1, Lysosome, Genetics, medicine, Humans, Point Mutation, Amino Acid Sequence, Sialidosis, Cloning, Molecular, Frameshift Mutation, Cells, Cultured, Polymorphism, Single-Stranded Conformational, DNA Primers, Skin, Base Sequence, Sequence Homology, Amino Acid, biology, Chromosome Mapping, medicine.disease, Molecular biology, Recombinant Proteins, Sialic acid, Lysosomal Storage Diseases, medicine.anatomical_structure, chemistry, Biochemistry, Mutation, DNA Transposable Elements, biology.protein, Chromosomes, Human, Pair 6, Lysosomes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a14e295e1a26c01942f43719d8e7b3dfTest
https://doi.org/10.1038/ng0397-316Test

المؤلفون: Richard A. Spritz, Guo Hong Feng, Tu Bailin, Jen-i Mao, Kazuyoshi Fukai, Edgar Frenk, Jangsuk Oh, Naoaki Tamura, Lingling Ho

المصدر: Nature genetics. 14(3)

مصطلحات موضوعية: Genetic Markers, Cytoplasm, Positional cloning, Molecular Sequence Data, Biology, Gene mapping, Japan, hemic and lymphatic diseases, Genetics, medicine, Lysosomal storage disease, Humans, Amino Acid Sequence, Cloning, Molecular, Gene, integumentary system, Base Sequence, Puerto Rico, Chromosome Mapping, Membrane Proteins, Syndrome, respiratory system, medicine.disease, eye diseases, Transmembrane protein, Lysosomal Storage Diseases, Phenotype, Gene Expression Regulation, Albinism, Oculocutaneous, Mutation, Hermanski-Pudlak Syndrome, Hermansky–Pudlak syndrome, Ireland, Switzerland

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4799c4c0651444c1aa0008f19941009cTest
https://pubmed.ncbi.nlm.nih.gov/8896547Test