المؤلفون: A. Kohlschütter, R. E. Williams, H. H. Goebel, S. E. Mole, R. M. Boustany, O. P. van Diggelen, M. Elleder, J. W. Mink, R. Niezen de Boer, M. G. Ribeiro, SIMONATI, Alessandro

المساهمون: S.E. Mole, H. Goebel, R. Williams, A., Kohlschütter, R. E., William, H. H., Goebel, S. E., Mole, R. M., Boustany, O. P., van Diggelen, M., Elleder, J. W., Mink, R., Niezen de Boer, M. G., Ribeiro, Simonati, Alessandro

مصطلحات موضوعية: neuronal ceroid lipofuscinose, diagnosi, algorithms

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/isbn/9780199590018; ispartofbook:The neuronal ceroid lipofuscinoses (Batten disease); firstpage:24; lastpage:34; numberofpages:11; alleditors:S.E. Mole, H. Goebel, R. Williams; http://hdl.handle.net/11562/364161

الاتاحة: http://hdl.handle.net/11562/364161

المؤلفون: C. Aiello, N. Cannelli, J. D. Cooper, M. Haltia, R. Herva, U. Lahtinen, A. E. Lehesjoki, S. E. Mole, F. M. Santorelli, E. Siintola, SIMONATI, Alessandro

المساهمون: S.E. Mole, H. Goebel, R. Williams, C., Aiello, N., Cannelli, J. D., Cooper, M., Haltia, R., Herva, U., Lahtinen, A. E., Lehesjoki, S. E., Mole, F. M., Santorelli, E., Siintola, Simonati, Alessandro

مصطلحات موضوعية: Protein CLN8, CLN8 gene, neuronal ceroid lipofuscinoses

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/isbn/9780199590018; ispartofbook:The neuronal ceroid lipofuscinoses (Batten disease); firstpage:189; lastpage:202; numberofpages:14; alleditors:S.E. Mole, H. Goebel, R. Williams; http://hdl.handle.net/11562/364166

الاتاحة: http://hdl.handle.net/11562/364166

المؤلفون: R. E. Williams, H. H. Goebel, S. E. Mole, R. M. Boustany, M. Elleder, A. Kohlschütter, J. W. Mink, R. Niezen de Boer, SIMONATI, Alessandro

المساهمون: S.E. Mole, H.H. Goebel, R. Williams, R. E., William, H. H., Goebel, S. E., Mole, R. M., Boustany, M., Elleder, A., Kohlschütter, J. W., Mink, R., Niezen de Boer, Simonati, Alessandro

مصطلحات موضوعية: NCL nomenclature, NCL classification, Batten disease

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/isbn/9780199590018; ispartofbook:The neuronal ceroid lipofuscinoses (Batten disease); firstpage:20; lastpage:23; numberofpages:4; alleditors:S.E. Mole, H.H. Goebel, R. Williams; http://hdl.handle.net/11562/364154

الاتاحة: http://hdl.handle.net/11562/364154

المؤلفون: T. Arsov, K. R. Smith, J. Damiano, S. Franceschetti, L. Canafoglia, C. J. Bromhead, E. Andermann, D. F. Vears, P. Cossette, S. Rajagopalan, A. McDougall, V. Sofia, M. Farrell, U. Aguglia, A. Zini, M. Morbin, S. Mullen, F. Andermann, S. E. Mole, M. Bahlo, S. F. Berkovic, MELETTI, Stefano

المساهمون: T., Arsov, K. R., Smith, J., Damiano, S., Franceschetti, L., Canafoglia, C. J., Bromhead, E., Andermann, D. F., Vear, P., Cossette, S., Rajagopalan, A., Mcdougall, V., Sofia, M., Farrell, U., Aguglia, A., Zini, Meletti, Stefano, M., Morbin, S., Mullen, F., Andermann, S. E., Mole, M., Bahlo, S. F., Berkovic

مصطلحات موضوعية: Kufs disease, CLN6, progressive myoclonus epilepsy

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/21549341; info:eu-repo/semantics/altIdentifier/wos/WOS:000290832100004; volume:88(5); firstpage:566; lastpage:573; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11380/653655; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79955806792

الاتاحة: http://hdl.handle.net/11380/653655
https://doi.org/10.1016/j.ajhg.2011.04.004

المؤلفون: L B, Eksandh, V B, Ponjavic, P B, Munroe, H E, Eiberg, P E, Uvebrant, B E, Ehinger, S E, Mole, S, Andréasson

المصدر: Ophthalmic genetics. 21(2)

مصطلحات موضوعية: Adult, Male, Membrane Glycoproteins, Adolescent, DNA Mutational Analysis, Retinal Degeneration, Visual Acuity, Proteins, DNA, Polymerase Chain Reaction, Retina, Neuronal Ceroid-Lipofuscinoses, Child, Preschool, Mutation, Disease Progression, Electroretinography, Humans, Female, Fluorescein Angiography, Child, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::834989b7b8058378d1980b84ee2efe90
https://pubmed.ncbi.nlm.nih.gov/10916181

المؤلفون: S E, Mole, H M, Mitchison, P B, Munroe

المصدر: Human mutation. 14(3)

مصطلحات موضوعية: Membrane Glycoproteins, Polymorphism, Genetic, Databases, Factual, Tripeptidyl-Peptidase 1, DNA Mutational Analysis, Lysosome-Associated Membrane Glycoproteins, Membrane Proteins, Proteins, Intracellular Membranes, Hydrogen-Ion Concentration, Aminopeptidases, Lipofuscin, Neuronal Ceroid-Lipofuscinoses, Endopeptidases, Mutation, Humans, Thiolester Hydrolases, Serine Proteases, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Lysosomes, Molecular Chaperones, Peptide Hydrolases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::50676b8b29b48630134e767623e39704
https://pubmed.ncbi.nlm.nih.gov/10477428

المؤلفون: H M, Mitchison, S L, Hofmann, C H, Becerra, P B, Munroe, B D, Lake, Y J, Crow, J B, Stephenson, R E, Williams, I L, Hofman, P E, Taschner, J J, Martin, M, Philippart, E, Andermann, F, Andermann, S E, Mole, R M, Gardiner, A M, O'Rawe

المصدر: Human molecular genetics. 7(2)

مصطلحات موضوعية: Male, Neurons, Genotype, DNA Mutational Analysis, Exons, Sequence Analysis, DNA, Cytoplasmic Granules, Polymerase Chain Reaction, Europe, Genetic Heterogeneity, Neuronal Ceroid-Lipofuscinoses, North America, Humans, Point Mutation, Female, Lymphocytes, RNA, Messenger, Thiolester Hydrolases, Age of Onset, Child, Alleles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::94f4f4babdf890d2f2c2c00fd22b6fff
https://pubmed.ncbi.nlm.nih.gov/9425237

المؤلفون: S E, Mole, M, Gardiner

المصدر: International journal of neurology.

مصطلحات موضوعية: Tripeptidyl-Peptidase 1, Neuronal Ceroid-Lipofuscinoses, Pregnancy, Animals, Humans, Female, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::54746f7da3e56daa84840045ce7e4da8
https://pubmed.ncbi.nlm.nih.gov/11980063