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المؤلفون: Roberto Marconi, Bouley S, Emmanuel Broussolle, De Michele G, Alexis Brice, Alessandro Filla, Ben A. Oostra, Alexandra Durr, Patrice Denefle, Biswadjiet S. Harhangi, Nicholas W. Wood, C. B. Lücking, Yves Agid, Edito Fabrizio, Bonifati, Giuseppe Meco, Laurent Pradier, Vaughan, Nacer Abbas, Thomas Gasser, Ricard S, Georg Andrees Bohme, Christine Brefel-Courbon
المساهمون: Epidemiology, Clinical Genetics
المصدر: Human Molecular Genetics, 8(4), 567-574. Oxford University Press
Scopus-Elsevierمصطلحات موضوعية: Genetics, Mutation, Point mutation, Nonsense mutation, General Medicine, Biology, medicine.disease_cause, Parkin, nervous system diseases, Exon, Genotype, medicine, Missense mutation, Age of onset, Molecular Biology, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e38739f37c53c53b1c35d4aa20999aa2
https://doi.org/10.1093/hmg/8.4.567 -
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المؤلفون: V. Bonifati, C. B. Lücking, A. Dürr, E. Fabrizio, G. Ambrosio, N. Vanacore, M. D. Mari, R. Marconi, L. Capus, M. M. Breteler, T. Gasser, B. Oostra, N. Wood, Y. Agid, G. Meco, A. Brice, F. P. D., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO
المساهمون: V., Bonifati, DE MICHELE, Giuseppe, C. B., Lücking, A., Dürr, E., Fabrizio, G., Ambrosio, N., Vanacore, M. D., Mari, R., Marconi, L., Capu, M. M., Breteler, T., Gasser, B., Oostra, N., Wood, Y., Agid, Filla, Alessandro, G., Meco, A., Brice, F. P., D.
مصطلحات موضوعية: Ubiquitin-Protein Ligases, genetics, DNA Mutational Analysis, Exon, DNA Mutational Analysis, Brain, Chromosome Mapping, Exons, Antiparkinson Agents, Ligases, therapeutic use, Brain, Phenotype, genetics/pathology/physiopathology, Phenotype, Point Mutation, Parkinsonian Disorders, pathology/physiopathology, Chromosome Mapping, Chromosome, Humans, Point Mutation, Chromosomes, Human, Pair 6, genetics/metabolism, Parkinsonian Disorder, Genetic Testing, Age of Onset, Antiparkinson Agent, Pair 6, Age of Onset, genetics, Genetic Testing, Humans, Ligase, genetics, Ubiquitin-Protein Ligases, Human
وصف الملف: ELETTRONICO
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::85c48875010e51a55c7484d0ffc41a79
http://hdl.handle.net/11588/483632 -
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المؤلفون: N, Abbas, C B, Lücking, S, Ricard, A, Dürr, V, Bonifati, G, De Michele, S, Bouley, J R, Vaughan, T, Gasser, R, Marconi, E, Broussolle, C, Brefel-Courbon, B S, Harhangi, B A, Oostra, E, Fabrizio, G A, Böhme, L, Pradier, N W, Wood, A, Filla, G, Meco, P, Denefle, Y, Agid, A, Brice
المساهمون: N., Abba, C. B., Lücking, S., Ricard, A., Dürr, V., Bonifati, DE MICHELE, Giuseppe, S., Bouley, J. R., Vaughan, T., Gasser, R., Marconi, E., Broussolle, C., Brefel Courbon, B. S., Harhangi, B. A., Oostra, E., Fabrizio, G. A., Böhme, L., Pradier, N. W., Wood, Filla, Alessandro, G., Meco, P., Denefle, Y., Agid, A., Brice
المصدر: ResearcherID
مصطلحات موضوعية: Male, Genotype, Ubiquitin-Protein Ligases, Genes, Recessive, genetics, Genotype, Humans, Ligases, Male, Mutation, Parkinson Disease, genetics, Family Health, Female, Gene Deletion, Gene, Ligases, Humans, Point Mutation, Recessive, Genetic, Protein, Family Health, Binding Sites, Polymorphism, Genetic, Proteins, Parkinson Disease, Exons, genetics, Pedigree, Phenotype, Point Mutation, Polymorphism, Pedigree, Europe, Phenotype, Mutation, Female, Binding Sites, Europe, Exon, genetics, Ubiquitin-Protein Ligases, Gene Deletion
وصف الملف: ELETTRONICO
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::157dcc8ddb6df2300cf591ce9af63e60
http://hdl.handle.net/11588/483633 -
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المؤلفون: Martin W.I.M. Horstink, Alexis Brice, Martin Lammens, B.P.C. van de Warrenburg, Peter Praamstra, Niall Quinn, Jan Booij, C. B. Lücking, Pieter Wesseling, Patrice Denefle
المساهمون: Other departments
المصدر: Neurology, 56, 4, pp. 555--7
Neurology, 56, 555--7
Neurology, 56(4), 555-557. Lippincott Williams and Wilkins
ResearcherIDمصطلحات موضوعية: Male, Proband, Immunologische ontstekingsprocessen in de nier, Pathology, medicine.medical_specialty, Ubiquitin-Protein Ligases, Nonsense mutation, tau Proteins, Pathofysiologie van Hersenen en Gedrag, Substantia nigra, Pathophysiology of Brain and Behaviour, Biology, Polymerase Chain Reaction, Ligases, Loss of heterozygosity, Parkinsonian Disorders, Inflammatory reactions in the kidneys, medicine, Humans, Point Mutation, Missense mutation, Aged, Netherlands, Genetics, Neuromusculaire en neurometabole aandoeningen, Pars compacta, Point mutation, Parkinsonism, Brain, medicine.disease, nervous system diseases, Neuromuscular and neurometabolic disorders, nervous system, Astrocytes, Female, Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b898a7f0d4a1085d197675a4c95ac2a6
https://doi.org/10.1212/wnl.56.4.555 -
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المؤلفون: A. Koch, Michael Bonin, C. B. Lücking, K. Häbig, Martin Dichgans, T. Gasser
المصدر: Aktuelle Neurologie. 34
مصطلحات موضوعية: Neurology (clinical), Biology, Parkin, Cell biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::458443102e227ba8b78677083386b3c5
https://doi.org/10.1055/s-2007-987776 -
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المؤلفون: Cornelia Hampe, Philipp J. Kahle, Nadja Patenge, C. B. Lücking, O. Corti, Martin Dichgans, Alexis Brice, E. Schultz, E. E. Wanker, T. Gasser, S. Deeg, A. Yamamoto, J. C. Dächsel
المصدر: Aktuelle Neurologie. 32
مصطلحات موضوعية: Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::619b21c504354b3c7e2d7a376b466333
https://doi.org/10.1055/s-2005-919319 -
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المؤلفون: K. Vaupel, K Genser, E. E. Wanker, C. B. Lücking, Nadja Patenge, J. C. Dächsel, S. Deeg, O. Corti, T. Gasser, Philipp J. Kahle, E. Casademunt, Alexis Brice, E Schulz, Cornelia Hampe, Martin Dichgans
المصدر: Aktuelle Neurologie. 32
مصطلحات موضوعية: Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6a9a5db891bc0ea0d317151f02aff6fc
https://doi.org/10.1055/s-2005-866696 -
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المؤلفون: Alexis Brice, C. B. Lücking
المصدر: Cellular and molecular life sciences : CMLS. 57(13-14)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Parkinson's disease, Neurite, Tyrosine 3-Monooxygenase, Cell Survival, Cellular differentiation, Dopamine, Synucleins, Nerve Tissue Proteins, tau Proteins, Biology, Pathogenesis, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Alzheimer Disease, medicine, Animals, Humans, Molecular Biology, Pharmacology, Alpha-synuclein, Neurons, Neuronal Plasticity, Neurodegeneration, Amyotrophic Lateral Sclerosis, Cell Differentiation, Parkinson Disease, Cell Biology, Multiple System Atrophy, medicine.disease, nervous system diseases, Protein Structure, Tertiary, chemistry, 14-3-3 Proteins, Synaptic plasticity, alpha-Synuclein, Molecular Medicine, Signal transduction, Carrier Proteins, Neuroscience, Molecular Chaperones
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المؤلفون: Magali Periquet, Alexis Brice, Vincenzo Bonifati, Nicola Vanacore, C. B. Lücking, Giuseppe Meco
مصطلحات موضوعية: Adult, Male, Ubiquitin-Protein Ligases, Biology, medicine.disease_cause, Compound heterozygosity, Polymerase Chain Reaction, law.invention, Ligases, Exon, Degenerative disease, Parkinsonian Disorders, law, Multiplex polymerase chain reaction, medicine, Humans, Gene, Polymerase chain reaction, Genetics, Mutation, Parkinsonism, Exons, Middle Aged, medicine.disease, Pedigree, nervous system diseases, Haplotypes, Female, Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78bcf853b7982e3bad3c74f6606961fe
http://hdl.handle.net/11573/91787 -
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المؤلفون: Philippe Remy, N. Ginovart, Alexandra Durr, Pierre Pollak, C. B. Lücking, Emmanuel Broussolle
المصدر: Neurology. 55(6)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Ubiquitin-Protein Ligases, Caudate nucleus, Substantia nigra, Biology, medicine.disease_cause, Central nervous system disease, Ligases, Degenerative disease, Parkinsonian Disorders, Internal medicine, medicine, Humans, Age of Onset, Mutation, Putamen, Brain, Proteins, Parkin gene, Middle Aged, medicine.disease, nervous system diseases, Endocrinology, Female, Neurology (clinical), Age of onset, Tomography, Emission-Computed
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81ce9e73f26f898c5f9c422c8c94a722
https://pubmed.ncbi.nlm.nih.gov/10994015
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