يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"Susan L. Cotman"', وقت الاستعلام: 0.65s تنقيح النتائج
  1. 1
    Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse

    المؤلفون: Roderick T. Bronson, Xuebin Qin, Marcy E. MacDonald, Terry J. Lerner, Derek Stout, Tammy Gillis, Lakshmi Srinidhi, Janice A. Espinola, Kristen Auger Antonellis, Shumei Liu, Leah Rae Donahue, Hanlin Gao, Jerry R. Faust, Rose-Mary Boustany, Jonathan L. Haines, Susan L. Cotman

    المصدر: The American Journal of Human Genetics. 70(2):324-335

    مصطلحات موضوعية: Costa Rica, Male, Batten disease, DNA Mutational Analysis, Molecular Sequence Data, Biology, Frameshift mutation, Exon, Mice, Gene Frequency, Neuronal Ceroid-Lipofuscinoses, medicine, Genetics, Animals, Humans, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, Cognitive decline, Genetics (clinical), Chromosomes, Human, Pair 15, Polymorphism, Genetic, Base Sequence, Haplotype, Chromosome Mapping, Membrane Proteins, Exons, Articles, medicine.disease, Venezuela, Stop codon, Pedigree, Haplotypes, CLN8, Mutation, Neuronal ceroid lipofuscinosis, Female, Sequence Alignment, Gene Deletion

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1960be1db57833d9890621270d20775Test


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  2. 2
    Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth

    المؤلفون: Roderick T. Bronson, Allison Teed, Lori-Anne Lebel, Kevin A. Johnson, Richard L. Lee, Susan L. Cotman, Marcy E. MacDonald, Vladimir Vrbanac, Leah-Rae Donahue, Terry J. Lerner, Kristen Auger Antonellis

    المصدر: Human molecular genetics. 11(22)

    مصطلحات موضوعية: Central Nervous System, Heterozygote, Batten disease, DNA, Complementary, Central nervous system, Molecular Sequence Data, Biology, medicine.disease_cause, Mice, Neuronal Ceroid-Lipofuscinoses, Pregnancy, Gene knockin, Genetics, medicine, Animals, Humans, Amino Acid Sequence, Allele, Molecular Biology, Genetics (clinical), Sequence Deletion, Mutation, Membrane Glycoproteins, Base Sequence, Sequence Homology, Amino Acid, Homozygote, Proteins, General Medicine, medicine.disease, Molecular biology, Mice, Mutant Strains, Alternative Splicing, Disease Models, Animal, Microscopy, Electron, medicine.anatomical_structure, CLN3, Neuronal ceroid lipofuscinosis, Female, Neuron, Molecular Chaperones

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e1748a4a0c0c1fe40905499b346affbTest
    https://pubmed.ncbi.nlm.nih.gov/12374761Test


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