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المؤلفون: Alice Lazzarini
المصدر: INTERAZIONI. :89-105
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::20b3e27d668130b11facb556c7c3f68c
https://doi.org/10.3280/int2016-001008 -
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المؤلفون: Mark Stacy, Robert G. Feldman, Samer Karamohamed, S. J. Fink, Christine Klein, Gang Xu, Jemma B. Wilk, Alan Herbert, Carlos Singer, N. Labelle, Alice Lazzarini, Joel S. Perlmutter, Lillian J. Currie, Kenneth B. Baker, Marie Saint-Hilaire, Richard H. Myers, Mark Guttman, James F. Gusella, Lawrence I. Golbe, Peter Vieregge, Erwin B. Montgomery, Anita L. DeStefano, Mark F. Lew, Oksana Suchowersky, A. Parsian, Margery H. Mark, K. M. Sullivan, Brad A. Racette, G. F. Wooten, Peter P. Pramstaller, Cheryl H. Waters, Christina M. Shoemaker, Ray L. Watts, John H. Growdon
المصدر: Neurology. 61:1557-1561
مصطلحات موضوعية: Adult, Genetics, Linkage disequilibrium, Adolescent, Haplotype, Chromosome Mapping, Parkinson Disease, Single-nucleotide polymorphism, Locus (genetics), Middle Aged, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Alcohol Oxidoreductases, Haplotypes, Chromosomes, Human, Pair 2, Humans, SNP, Genetic Predisposition to Disease, Neurology (clinical), Age of Onset, Age of onset, Allele, Sepiapterin reductase, Aged
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c596cace05c4dd64a3237b189e7cf020
https://doi.org/10.1212/01.wnl.0000095966.99430.f4 -
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المؤلفون: Bruce L. Ehrenberg, Kathleen Hickey, William G. Johnson, Daniel L. Picchietti, Alice Lazzarini, Elio Lugaresi, Giorgio Coccagna, Arthur S. Walters, E. Scot Stenroos, Tracy Verrico, Mitchell F. Brin
المصدر: Movement Disorders. 14:111-116
مصطلحات موضوعية: Genetics, Genetic heterogeneity, Parenteral transmission, Pedigree chart, medicine.disease, Penetrance, BTBD9, Neurology, Anticipation (genetics), medicine, Neurology (clinical), Restless legs syndrome, Age of onset, Psychology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dbf2bf0d0722e5212d486a2329e91dde
https://doi.org/10.1002/1531-8257(199901)14:1<111::aid-mds1018>3.0.co;2-9 -
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المؤلفون: Cheryl S. Reid, Thomas Lehner, William G. Johnson, Jurg Ott, Alice Lazzarini, Edward S. Stenroos, Vershon McKoy, Bert Gold, Michael K. McCormack
المصدر: American Journal of Medical Genetics. 57:552-557
مصطلحات موضوعية: Male, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Polymorphism, Genetic, X Chromosome, Genetic Linkage, Biology, Genetic recombination, Pedigree, Gene mapping, Short Tandem Repeat Polymorphism, Genetic linkage, Intellectual Disability, Humans, Lod Score, Genetics (clinical), X chromosome, Repetitive Sequences, Nucleic Acid, Lod scores, Lod score
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المؤلفون: Carmen Ayuso García, Martha Nance, Andrea Novelletto, Gang Xu, Oksana Suchowersky, Alice Lazzarini, Jang Ho J. Cha, Steven M. Hersch, Russell L. Margolis, Andrea Zanko, Vanessa C. Wheeler, Anthony J. Lechich, P. Michael Conneally, Ruth K. Abramson, Ferdinando Squitieri, Patrick J. Morrison, Ranjana Prakash, Adam Rosenblatt, John B. Penney, Jayalakshmi S. Mysore, Marina Frontali, Jane S. Paulsen, Marie Saint-Hilaire, Ayana Duckett, Luc Djoussé, Richard H. Myers, Alexandra Durr, Simon C. Warby, Tammy Gillis, Michael R. Hayden, James F. Gusella, Chirstopher A. Ross, Elizabeth McCusker, Ronald J. Trent, Susan Perlman, Marcy E. MacDonald, Michael Hakky, Randi Jones, Luigi Frati, Jian-Liang Li, Tetsuo Ashizawa, Madaline B. Harrison, Karen Marder, L. Adrienne Cupples, Mary Lou Klimek, Estrella Gómez-Tortosa
المصدر: BMC Medical Genetics, Vol 7, Iss 1, p 71 (2006)
BMC Medical Geneticsمصطلحات موضوعية: molecular cloning, Genetic Linkage, correlation analysis, genotype, data analysis, Pedigree chart, genetic analysis, variance, Nervous system--Diseases--Genetic aspects, quantitative trait locus, 0302 clinical medicine, Trinucleotide Repeats, genetic variability, guanine, Genetics(clinical), sibling, Age of Onset, cytosine, Genetics (clinical), Genetics, 0303 health sciences, pathogenesis, Brain--Diseases--Age factors, article, microsatellite marker, Huntington's disease, Middle Aged, Huntington Disease, Microsatellite, Chromosomes, Human, Pair 6, DNA modification, trinucleotide repeat, Research Article, onset age, Adult, Genetic Markers, lcsh:Internal medicine, gene locus, Adolescent, lcsh:QH426-470, huntingtin, heredity, Quantitative Trait Loci, Age factors in disease, Locus (genetics), Biology, Quantitative trait locus, adenine, DNA, adolescent, adult, age, aged, chromosome 18q, chromosome 6q, controlled study, follow up, gene identification, gene interaction, gene replication, genetic epistasis, genetic linkage, human, human cell, Huntington chorea, linkage analysis, major clinical study, pedigree analysis, 03 medical and health sciences, medicine, Humans, lcsh:RC31-1245, 030304 developmental biology, Aged, Linkage (software), Models, Genetic, Genome, Human, FOS: Clinical medicine, Neurosciences, medicine.disease, Settore BIO/18 - Genetica, lcsh:Genetics, Epistasis, Trinucleotide repeat expansion, 030217 neurology & neurosurgery
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المؤلفون: Anindya Dehejia, William G. Johnson, Elisabeth Leroy, Amalia Dutra, Giuseppe Di Iorio, Theodore Papapetropoulos, Christian Lavedan, Lawrence I. Golbe, Mihael H. Polymeropoulos, Robert L. Nussbaum, Brian L. Pike, Roger C. Duvoisin, Susan E. Ide, Rebecca Boyer, Jeffrey Rubenstein, Edward S. Stenroos, Aglaia Athanassiadou, Holly Root, Settara C. Chandrasekharappa, Alice Lazzarini
المصدر: Science. 276:2045-2047
مصطلحات موضوعية: Genetic Markers, Male, Molecular Sequence Data, Synucleins, Nerve Tissue Proteins, Biology, Polymerase Chain Reaction, Protein Structure, Secondary, Parkin, chemistry.chemical_compound, Animals, Humans, Point Mutation, Amino Acid Sequence, Age of Onset, Genes, Dominant, Alpha-synuclein, Genetics, Multidisciplinary, Base Sequence, Greece, Gamma-synuclein, PARK7, Chromosome Mapping, Family aggregation, Parkinson Disease, LRRK2, Pedigree, Phenotype, Italy, chemistry, alpha-Synuclein, Synuclein, Female, Beta-synuclein, Chromosomes, Human, Pair 4
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المؤلفون: John H. Growdon, Mark Guttman, Erwin B. Montgomery, James F. Gusella, Lawrence I. Golbe, Robert G. Feldman, Jean P. Hubble, Margery H. Mark, Mark F. Lew, Alice Lazzarini, Marcy E. MacDonald, Ray L. Watts, Carlos Singer, Lillian J. Currie, Christine Klein, Cheryl H. Waters, Peter Vieregge, Mark Stacy, N. Labelle, A. L. Lafontaine, G. F. Wooten, Marie Saint-Hilaire, Richard H. Myers, Nancy E. Maher, Anita L. DeStefano, Oksana Suchowersky, Peter P. Pramstaller
المصدر: Neurology. 57(6)
مصطلحات موضوعية: Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Parkinson's disease, Genetic Linkage, Dystonia Musculorum Deformans, Locus (genetics), Chromosome 9, Dopamine beta-Hydroxylase, Genome, Torsion dystonia, medicine, Humans, Genetic Testing, Aged, Genetics, business.industry, Chromosomes, Human, Pair 10, Parkinson Disease, Middle Aged, medicine.disease, Surgery, Chromosomes, Human, Pair 1, Neurology (clinical), business, Chromosomes, Human, Pair 9, Chromosomes, Human, Pair 16
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23fe0f4bd5ae354d370cc2851e69bf66
https://pubmed.ncbi.nlm.nih.gov/11571351 -
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المؤلفون: Margery H. Mark, John R. Spychala, Jacob I. Sage, Alice Lazzarini, Edward S. Stenroos, Lawrence I. Golbe, William G. Johnson
المصدر: Movement disorders : official journal of the Movement Disorder Society. 16(3)
مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, Pathology, Parkinson's disease, Genotype, Tau protein, Synucleins, Nerve Tissue Proteins, tau Proteins, Gastroenterology, Progressive supranuclear palsy, Central nervous system disease, Gene Frequency, Internal medicine, medicine, Humans, Protein Isoforms, Allele, Alleles, Aged, biology, Parkinson Disease, Middle Aged, medicine.disease, Genotype frequency, Neurology, Case-Control Studies, biology.protein, Female, Neurology (clinical), Tauopathy, Supranuclear Palsy, Progressive
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المؤلفون: Alice Lazzarini, William G. Johnson, T. R. Zimmerman, Margery H. Mark, Jacob I. Sage, Richard H. Myers, Lawrence I. Golbe, Roger C. Duvoisin
المصدر: Neurology. 44(3 Pt 1)
مصطلحات موضوعية: Proband, Adult, Male, Parkinson's disease, Adolescent, Disease, Developmental psychology, Age Distribution, Medicine, Humans, Risk factor, Family history, Survival analysis, Aged, Genes, Dominant, business.industry, Family aggregation, Parkinson Disease, Middle Aged, medicine.disease, Penetrance, Pedigree, Female, Neurology (clinical), business, Demography
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1573f6ec1274fd2ddebf5565dc101d24
https://pubmed.ncbi.nlm.nih.gov/8145922 -
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المصدر: Neurology. 42(11)
مصطلحات موضوعية: Nosology, Adult, Male, Locus (genetics), Pedigree chart, Hereditary ataxia, Gene mapping, Medicine, Humans, Aged, Genes, Dominant, Spinocerebellar Degenerations, Genetics, Gene carrier, business.industry, Chromosome Mapping, Middle Aged, medicine.disease, United States, Pedigree, Spinocerebellar ataxia, Chromosomes, Human, Pair 6, Female, Neurology (clinical), Age of onset, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba0cedbf32c217e2b486b0a33ee04eb3
https://pubmed.ncbi.nlm.nih.gov/1436521