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1دورية أكاديمية
المؤلفون: Loesch, Danuta Z, Tassone, Flora, Mellick, George D, Horne, Malcolm, Rubio, Justin P, Bui, Minh Q, Francis, David, Storey, Elsdon
المصدر: Movement Disorders. 33(7)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Neurodegenerative, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Parkinson's Disease, Fragile X Syndrome, Brain Disorders, Genetics, Neurological, Cohort Studies, DNA Mutational Analysis, Female, Fragile X Mental Retardation Protein, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Parkinsonian Disorders, Risk Factors, Sex Factors, Trinucleotide Repeat Expansion, FMR1 gene, Parkinson's disease, carrier screening, grey zone alleles, increased risk, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/76n09352Test
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2
المؤلفون: Pascual Sánchez-Juan, J M Polo, Onofre Combarros, María Sierra, José Berciano, Coro Sánchez-Quintana, Jon Infante, Isabel González-Aramburu
المصدر: Movement Disorders. 26:2343-2346
مصطلحات موضوعية: Adult, Male, Proband, Pediatrics, medicine.medical_specialty, Parkinson's disease, Genotype, Genetic counseling, Penetrance, Disease, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Gene Frequency, Humans, Point Mutation, Medicine, Genetic Predisposition to Disease, Aged, Aged, 80 and over, Genetics, business.industry, Genetic Carrier Screening, Incidence (epidemiology), Parkinson Disease, Middle Aged, medicine.disease, LRRK2, Ashkenazi jews, Neurology, Spain, Female, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fcbe3e3031384829ecd626c250baa68Test
https://doi.org/10.1002/mds.23965Test -
3
المؤلفون: Cindy Zadikoff, Shabnam Salehi-Rad, Ana Djarmati, Peter St George-Hyslop, Christine Sato, Christine Klein, Anthony E. Lang, Ekaterina Rogaeva
المصدر: Movement Disorders. 21:875-879
مصطلحات موضوعية: Adult, Male, Parkinson's disease, media_common.quotation_subject, Nonsense, Mutation, Missense, PINK1, medicine.disease_cause, Loss of heterozygosity, medicine, Humans, Missense mutation, In patient, Gene, media_common, Genetics, Mutation, business.industry, Genetic Carrier Screening, Homozygote, Parkinson Disease, Middle Aged, medicine.disease, Neurology, Codon, Nonsense, Neurology (clinical), business, Protein Kinases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80d27fbc873d828e28c137bf1b820c69Test
https://doi.org/10.1002/mds.20854Test -
4
المؤلفون: Michel Panisset, Fabin Han, Lemuel Racacho, Dennis E. Bulman, Fengxia Xiao, David Grimes, Kelly Westaff, Ruobing Zou
المصدر: Movement Disorders. 21:906-909
مصطلحات موضوعية: Genetics, Mutation, Sequence analysis, Genetic Carrier Screening, Intron, Amplicon, Biology, medicine.disease_cause, Molecular biology, Exon, Neurology, medicine, Neurology (clinical), Transversion, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1ef201f106f5616dd7f0bbe5d757066dTest
https://doi.org/10.1002/mds.20820Test -
5
المؤلفون: Yih Yuen, Louis C.S. Tan, Fung-Peng Woon, K. T. Moe, Deidre A De Silva, K. Puvan, Eng-King Tan, Meng-Cheong Wong, Hui Shen, Dominic Jamora, Kenneth Yew, Esther Lee, R. Pavanni, E. Chua, K. Y. Puong, Yi Zhao
المصدر: Movement Disorders. 21:789-793
مصطلحات موضوعية: Adult, medicine.medical_specialty, Parkinson's disease, Population, Disease, medicine.disease_cause, Asian People, Internal medicine, Ethnicity, medicine, Humans, Missense mutation, Restless legs syndrome, Age of Onset, education, DNA Primers, Genetics, Singapore, Mutation, education.field_of_study, Base Sequence, business.industry, Genetic Carrier Screening, Homozygote, Parkinson Disease, Middle Aged, medicine.disease, Neurology, Cohort, Neurology (clinical), Age of onset, business, Protein Kinases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d17bfe71906837b24c12ef14dfdc2eaaTest
https://doi.org/10.1002/mds.20810Test -
6
المؤلفون: Jürgen Andrich, Carsten Saft, Thomas Müller, Nina-Marie Meisel, Horst Przuntek
المصدر: Movement Disorders. 21:1208-1212
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Movement disorders, Movement, Disease, Neuropsychological Tests, Central nervous system disease, Degenerative disease, Huntington's disease, Internal medicine, medicine, Humans, Movement Disorders, Gene carrier, Genetic Carrier Screening, Middle Aged, medicine.disease, Huntington Disease, Caudate atrophy, Neurology, Cardiology, Female, Neurology (clinical), medicine.symptom, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2950373db54ee6037e0517ddb5063f2Test
https://doi.org/10.1002/mds.20939Test -
7
المؤلفون: Vladimir S. Kostic, Jens Volkmann, Peter Vieregge, Peter P. Pramstaller, Katja Hedrich, Meike Kasten, Johann Hagenah, Christine Klein, Eberhard Schwinger, K. Kabakci, Susen Winkler
المصدر: Movement Disorders. 21:1506-1510
مصطلحات موضوعية: Adult, Genetic Markers, Male, Pathology, medicine.medical_specialty, Genotype, DNA Mutational Analysis, Genetic Carrier Screening, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, 03 medical and health sciences, Exon, 0302 clinical medicine, Parkinsonian Disorders, Mutation Carrier, Recurrence, medicine, Humans, Genetic Testing, Allele, Dominance, Cerebral, Alleles, Polymorphism, Single-Stranded Conformational, 030304 developmental biology, Dominance (genetics), Genetic testing, Genetics, 0303 health sciences, medicine.diagnostic_test, business.industry, Age Factors, Exons, Middle Aged, Echoencephalography, LRRK2, nervous system diseases, 3. Good health, Phenotype, Neurology, Female, Neurology (clinical), business, Polymorphism, Restriction Fragment Length, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c21268cce8b8bbc42f84b47bf304a35Test
https://doi.org/10.1002/mds.20990Test -
8
المؤلفون: Thomas Litwin, Beatek Tarnacka, Grzegorz Chabik, Harmut H.J. Schmidt, Janine Genschel, Bettina Bochow, Graznya Gromadzka, M. Rodo, Anna Członkowska
المصدر: Movement Disorders. 21:245-248
مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, DNA Mutational Analysis, Statistics as Topic, Nonsense mutation, Genes, Recessive, Biology, Compound heterozygosity, Frameshift mutation, Gene Frequency, Hepatolenticular Degeneration, medicine, Humans, Missense mutation, Tissue Distribution, Child, Cation Transport Proteins, Allele frequency, Alleles, Adenosine Triphosphatases, Chromosome Aberrations, Genetics, Genetic Carrier Screening, Homozygote, Ceruloplasmin, Sequence Analysis, DNA, Middle Aged, medicine.disease, Wilson's disease, Phenotype, Neurology, Copper-Transporting ATPases, Mutation (genetic algorithm), Female, Poland, Neurology (clinical), Copper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9b80e4d5511f3485f49ab68a544e424Test
https://doi.org/10.1002/mds.20671Test -
9
المؤلفون: Bing-Wen Soong, Shwn Jen Lee, Ren Shyan Liu, Kwong Kum Liao, Chen Ming Sun, Din E. Shan
المصدر: Movement Disorders. 19:1357-1360
مصطلحات موضوعية: Male, Levodopa, Pathology, medicine.medical_specialty, Parkinson's disease, Ubiquitin-Protein Ligases, DNA Mutational Analysis, Nerve Tissue Proteins, Disease, Gene mutation, medicine.disease_cause, Polymerase Chain Reaction, Antiparkinson Agents, Central nervous system disease, Degenerative disease, Trinucleotide Repeats, Humans, Spinocerebellar Ataxias, Medicine, Genetic Testing, Dominance, Cerebral, Alleles, Aged, Neurologic Examination, Mutation, business.industry, Genetic Carrier Screening, Putamen, Proteins, Parkinson Disease, Middle Aged, medicine.disease, nervous system diseases, Treatment Outcome, Ataxins, Neurology, Positron-Emission Tomography, Immunology, Spinocerebellar ataxia, Neurology (clinical), Caudate Nucleus, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0c1f81029322c64682269c2d5ccdd9Test
https://doi.org/10.1002/mds.20212Test -
10
المؤلفون: Louis C.S. Tan, Caroline M. Tanner, Piu Chan, John Hardy, Rong Chen, J. William Langston, Matthew J. Farrer
المصدر: Movement Disorders. 18:758-763
مصطلحات موضوعية: Adult, Male, Proband, Pediatrics, medicine.medical_specialty, Movement disorders, Ubiquitin-Protein Ligases, DNA Mutational Analysis, Biology, Diagnosis, Differential, medicine, Humans, Genetic Testing, Sibling, Base Pairing, Aged, Genetic testing, Neurologic Examination, Genetics, Dystonia, medicine.diagnostic_test, Genetic Carrier Screening, Parkinsonism, Age Factors, Genetic Variation, Parkinson Disease, Exons, Middle Aged, medicine.disease, Pedigree, nervous system diseases, Phenotype, Neurology, Dystonic Disorders, Mutation (genetic algorithm), Disease Progression, Dementia, Female, Disease Susceptibility, Neurology (clinical), Chromosome Deletion, medicine.symptom, Age of onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::128cca27df8cbb197c3e79ac13440ddbTest
https://doi.org/10.1002/mds.10432Test