المؤلفون: Carolin Kurz, Julius Bruch, Günter U. Höglinger, Alexandre Vasiljevic, Marc Nicolino, Thomas Arzberger

المساهمون: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL)

المصدر: Journal of neuropathology and experimental neurology 74(8), 850-857 (2015). doi:10.1097/NEN.0000000000000224
Journal of Neuropathology and Experimental Neurology
Journal of Neuropathology and Experimental Neurology, Lippincott, Williams & Wilkins, 2015, 74 (8), pp.850-7. ⟨10.1097/NEN.0000000000000224⟩

مصطلحات موضوعية: Male, [SDV]Life Sciences [q-bio], Fluorescent Antibody Technique, eIF-2 Kinase, 0302 clinical medicine, pathology [Brain], EIF2AK3, Child, 0303 health sciences, EIF2AK3 protein, human, Neurodegeneration, Brain, pathology [Nerve Degeneration], General Medicine, Human brain, Immunohistochemistry, genetics [Osteochondrodysplasias], 3. Good health, medicine.anatomical_structure, Osteochondrodysplasias/genetics/*pathology, Neurology, Child, Preschool, genetics [Nerve Degeneration], Epiphyses/*abnormalities/pathology, Alzheimer's disease, Epiphyses, endocrine system, Nerve Degeneration/genetics/*pathology, eIF-2 Kinase/*deficiency, Biology, Osteochondrodysplasias, Type 1/genetics/*pathology, Pathology and Forensic Medicine, Progressive supranuclear palsy, deficiency [eIF-2 Kinase], 03 medical and health sciences, Cellular and Molecular Neuroscience, pathology [Epiphyses], medicine, Diabetes Mellitus, Humans, ddc:610, Protein kinase A, Preschool, 030304 developmental biology, Endoplasmic reticulum, pathology [Diabetes Mellitus, Type 1], medicine.disease, Protein kinase R, genetics [Diabetes Mellitus, Type 1], abnormalities [Epiphyses], Diabetes Mellitus, Type 1, Nerve Degeneration, pathology [Osteochondrodysplasias], Neurology (clinical), Neuroscience, 030217 neurology & neurosurgery, Brain/*pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aeb140c8701b36c2667c24fe5bd1002

المؤلفون: Jackson, Gail, Barker, FS, Jakkula, E, Czamy-Ratajczak, M, Makitie, O, Cole, WG, Wright, MJ, Smithson, SF, Suri, M, Rogala, P, Mortier, GR, Baldock, Clair, Wallace, A, Elles, Robert, Ala-Kokko, L, Briggs, Michael

المصدر: Jackson , G , Barker , FS , Jakkula , E , Czamy-Ratajczak , M , Makitie , O , Cole , WG , Wright , MJ , Smithson , SF , Suri , M , Rogala , P , Mortier , GR , Baldock , C , Wallace , A , Elles , R , Ala-Kokko , L & Briggs , M 2004 , ' Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. ' , Journal of Medical Genetics , vol. 41 , no. 1 , pp. 52-59 . ....

مصطلحات موضوعية: Adolescent, genetics: Amino Acid Sequence, Child, Preschool, methods: DNA Mutational Analysis, genetics: Exons, chemistry: Extracellular Matrix Proteins, Female, genetics: Glycoproteins, genetics: Haplotypes, Humans, Male, Models, Molecular, Molecular Sequence Data, genetics: Mutation, Missense, genetics: Osteochondrodysplasias, Pedigree, chemistry: Peptides, genetics: Protein Structure, Tertiary, Research Support, Non-U.S. Gov't

الاتاحة: https://research.manchester.ac.uk/en/publications/3fbfc3ba-9297-4045-ab50-64e5bd68e3c2
https://doi.org/10.1136/jmg.2003.011429

المؤلفون: Ballhausen, D., Bonafe, L., Terhal, P., Unger, S. L., Bellus, G., Classen, M., Hamel, B. C., Spranger, J., Zabel, B., Cohn, D. H., Cole, W. G., Hecht, J. T., Superti-Furga, A.

المصدر: Journal of Medical Genetics, vol. 40, no. 1, pp. 65-71

مصطلحات موضوعية: Adolescent Adult Amino Acid Substitution/genetics Anion Transport Proteins Arginine/*genetics Biological Transport/genetics Carrier Proteins/*genetics/metabolism Child Chromosome Mapping/*methods Female Genes, Recessive/*genetics *Homozygote Humans Male Membrane Transport Proteins Middle Aged Mutation/*genetics Osteochondrodysplasias/*genetics Phenotype Sulfates/metabolism Tryptophan/*genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/12525546; info:eu-repo/semantics/altIdentifier/pissn/1468-6244; https://serval.unil.ch/notice/serval:BIB_2B32349A8D48

الاتاحة: https://serval.unil.ch/notice/serval:BIB_2B32349A8D48
https://doi.org/10.1136/jmg.40.1.65

المؤلفون: Gregory, C, Zabel, B, Grant, M, Boot-Handford, RR, Wallis, GA.

المصدر: Gregory , C , Zabel , B , Grant , M , Boot-Handford , RR & Wallis , GA 2000 , ' Equal expression of type X collagen mRNA from mutant and wild typeCOL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid ' , J Med Genet , vol. 37( 8) , no. 8 .

مصطلحات موضوعية: Alleles, Cartilage, genetics: Collagen, Humans, Mutation, genetics: Osteochondrodysplasias

الاتاحة: https://research.manchester.ac.uk/en/publications/a46822f6-d7e6-4daf-97ed-7475f0ad0ccd

المؤلفون: Hasmet Hanagasi, Jonathan D. Rohrer, Ebba Lohmann, Gamze Guven, Murat Emre, Rita Guerreiro, Başar Bilgiç, Jose Bras, Hakan Gurvit

المصدر: Neurobiology of Aging
Neurobiology of aging 34(12), 2890.e1-2890.e5 (2013). doi:10.1016/j.neurobiolaging.2013.06.005

مصطلحات موضوعية: Male, Aging, Lipodystrophy, Turkey, medicine.disease_cause, Compound heterozygosity, diagnosis [Frontotemporal Dementia], 0302 clinical medicine, genetics [Membrane Glycoproteins], TREM2, genetics [Receptors, Immunologic], Receptors, Immunologic, genetics [Frontotemporal Dementia], Nasu-Hakola, Genetics, 0303 health sciences, Mutation, Membrane Glycoproteins, General Neuroscience, Magnetic Resonance Imaging, Phenotype, genetics [Osteochondrodysplasias], 3. Good health, Female, Frontotemporal dementia, Adult, Heterozygote, Neuroscience(all), Clinical Neurology, genetics [Mutation], genetics [Lipodystrophy], Biology, Osteochondrodysplasias, Genetic Reports Abstract, Subacute sclerosing panencephalitis, 03 medical and health sciences, genetics [Subacute Sclerosing Panencephalitis], mental disorders, medicine, Humans, Compound heterozygous, Dementia, ddc:610, 030304 developmental biology, TREM2 protein, human, Heterozygote advantage, medicine.disease, Ageing, Subacute Sclerosing Panencephalitis, Neurology (clinical), Geriatrics and Gerontology, Tomography, X-Ray Computed, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95ed271eec9fe51ca93ae1aac0f4904b
https://doi.org/10.1016/j.neurobiolaging.2013.06.005