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1. Full Text LRRK2 G2019S as a Cause of Parkinson's Disease in Ashkenazi Jews
by Klein, Christine and Risch, Neil and Ozelius, Laurie J and Bressman, Susan B and Henick, Brian and Soto-Valencia, Jeannie and Saunders-Pullman, Rachel and Hailpern, Susan M and Ohmann, Erin and Senthil, Geetha and Lipton, Richard B and Deligtisch, Amanda and Tagliati, Michele and Hunt, Ann L
The New England Journal of Medicine, ISSN 0028-4793, 01/2006, Volume 354, Issue 4, pp. 424 - 425
To the Editor: Most cases of Parkinson's disease are considered sporadic and idiopathic, although there is evidence of familial aggregation, and several... 
MEDICINE, GENERAL & INTERNAL | FOUNDER | GENETICS | MUTATION | New York City | Homozygote | Humans | Protein-Serine-Threonine Kinases - genetics | Heterozygote | Mutation | Parkinson Disease - genetics | Europe - ethnology | Jews - genetics | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
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2. Full Text When to Start Levodopa Therapy for Parkinson’s Disease
by Bressman, Susan and Saunders-Pullman, Rachel
The New England Journal of Medicine, ISSN 0028-4793, 01/2019, Volume 380, Issue 4, pp. 389 - 390
Patients with Parkinson’s disease and the neurologists who treat them have had a complicated relationship with levodopa. Despite the undisputed efficacy of... 
Dopamine | Medical imaging | Levodopa | Motor task performance | Amine oxidase (flavin-containing) | Dyskinesia
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3. Full Text Phenotype, genotype, and worldwide genetic penetrance of LRRK2 -associated Parkinson's disease: a case-control study
by Healy, Daniel G, MD and Falchi, Mario, PhD and O'Sullivan, Sean S, MD and Bonifati, Vincenzo, MD and Durr, Alexandra, MD and Bressman, Susan, MD and Brice, Alexis, MD and Aasly, Jan, MD and Zabetian, Cyrus P, MD and Goldwurm, Stefano, PhD and Ferreira, Joaquim J, MD and Tolosa, Eduardo, MD and Kay, Denise M, PhD and Klein, Christine, MD and Williams, David R, MD and Marras, Connie, MD and Lang, Anthony E, MD and Wszolek, Zbigniew K, MD and Berciano, Jose, MD and Schapira, Anthony HV, MD and Lynch, Timothy, MD and Bhatia, Kailash P, MD and Gasser, Thomas, MD and Lees, Andrew J, MD and Wood, Nicholas W, MD and Int LRRK2 Consortium and International LRRK2 Consortium
Lancet Neurology, The, ISSN 1474-4422, 2008, Volume 7, Issue 7, pp. 583 - 590
Summary Background Mutations in LRRK2 , the gene that encodes leucine-rich repeat kinase 2, are a cause of Parkinson's disease (PD). The International LRRK2... 
Neurology | LRRK2 G2019S | AUTOSOMAL-DOMINANT PARKINSONISM | FREQUENCY | EARLY-ONSET | OLMSTED COUNTY | MUTATIONS | PREVALENCE | IDENTIFICATION | MINNESOTA | CLINICAL NEUROLOGY | OLFACTORY FUNCTION | Glycine - genetics | Severity of Illness Index | Parkinson Disease - complications | Genetic Predisposition to Disease | Genetic Testing | Age Factors | Humans | Protein-Serine-Threonine Kinases - genetics | Serine - genetics | Family Health | Genotype | Male | Penetrance | Risk | International Cooperation | Parkinson Disease - genetics | DNA Mutational Analysis - methods | Case-Control Studies | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 | Age of Onset | Parkinson Disease - epidemiology | Female | Parkinson Disease - classification | Medical colleges | Medical research | Neurosciences | Parkinson's disease | Genetic disorders | Genetic research | Medicine, Experimental | Genetic aspects | Life Sciences | Neurons and Cognition | Fast track
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4. Full Text Phenomenology and classification of dystonia: A consensus update
by Albanese, Alberto and Bhatia, Kailash and Bressman, Susan B and DeLong, Mahlon R and Fahn, Stanley and Fung, Victor S.C and Hallett, Mark and Jankovic, Joseph and Jinnah, Hyder A and Klein, Christine and Lang, Anthony E and Mink, Jonathan W and Teller, Jan K
Movement Disorders, ISSN 0885-3185, 06/2013, Volume 28, Issue 7, pp. 863 - 873
ABSTRACT This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed... 
classification | dystonia | definition | Definition | Classification | Dystonia | DIAGNOSIS | PARKINSONISM | GUIDELINES | FOCAL DYSTONIA | CLINICAL CHARACTERISTICS | CLINICAL NEUROLOGY | DYT1 PHENOTYPE | PATHOGENESIS | DISEASE | PRIMARY TORSION DYSTONIA | BLEPHAROSPASM | Dystonia - classification | Nervous System - pathology | Humans | Age of Onset | Databases, Factual - statistics & numerical data | Dystonia - physiopathology | International Cooperation | Dystonia - etiology | Consensus | Development and progression
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5. Full Text Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
by Bressman, Susan B, MD and Raymond, Deborah, MS and Fuchs, Tania, PhD and Heiman, Gary A, PhD and Ozelius, Laurie J, PhD and Saunders-Pullman, Rachel, MD
Lancet Neurology, The, ISSN 1474-4422, 2009, Volume 8, Issue 5, pp. 441 - 446
Summary Background Mutations in THAP1 were recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in Amish–Mennonite... 
Neurology | PARKINSONISM | MAPS | LIMB-ONSET | ITALIAN FAMILY | PHENOTYPE | ASHKENAZI JEWS | PRIMARY TORSION DYSTONIA | LOCUS | AUTOSOMAL-DOMINANT INHERITANCE | CLINICAL NEUROLOGY | Amino Acid Sequence | Genetic Testing | Humans | Middle Aged | Child, Preschool | Molecular Sequence Data | Male | DNA-Binding Proteins - genetics | Dystonia - genetics | Young Adult | Phenotype | DNA Mutational Analysis | Pedigree | Adolescent | Age of Onset | Apoptosis Regulatory Proteins - genetics | Adult | Family | Female | Heterozygote | Mutation | Nuclear Proteins - genetics | Child | Genetic aspects | Genetic screening | Dystonia
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6. Full Text Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia
by Risch, Neil J and Bressman, Susan B and Senthil, Geetha and Ozelius, Laurie J
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 6, pp. 1188 - 1193
A GAG deletion in the gene is a major cause of early-onset dystonia, but clinical disease expression occurs in only 30% of mutation carriers. To gain insight... 
NUCLEAR-ENVELOPE | AUTOSOMAL DOMINANT INHERITANCE | 9Q34 | IDIOPATHIC DYSTONIA | MUTATION | GENETICS & HEREDITY | ASHKENAZI JEWS | HAPLOTYPE | PROTEIN TORSINA | ASSOCIATION | DNA, Intergenic | Haplotypes | Genetic Predisposition to Disease | Gene Frequency | Humans | Molecular Chaperones - genetics | Alanine - metabolism | Penetrance | Genetic Markers | Dystonia Musculorum Deformans - genetics | Case-Control Studies | Genetic Variation | Jews | DNA Mutational Analysis | Gene Deletion | Alleles | Aspartic Acid - metabolism | Heterozygote | Polymorphism, Single Nucleotide | Glycosaminoglycans - genetics | Microsatellite Repeats | Amino Acid Substitution | Genetic aspects | Dystonia | Research | Single nucleotide polymorphisms | Genetic susceptibility | Report
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7. Full Text The diagnosis of dystonia
by Geyer, Howard L and Bressman, Susan B
Lancet Neurology, ISSN 1474-4422, 2006, Volume 5, Issue 9, pp. 780 - 790
Dystonia is a movement disorder with many presentations and diverse causes. A systematic approach to dystonia helps to ensure that patients with this disorder... 
MULTIPLE SYSTEM ATROPHY | HALLERVORDEN-SPATZ-SYNDROME | TYROSINE-HYDROXYLASE GENE | HEREDITARY PROGRESSIVE DYSTONIA | GTP-CYCLOHYDROLASE-I | PRIMARY TORSION DYSTONIA | PRIMARY WRITING TREMOR | DOPA-RESPONSIVE DYSTONIA | KAYSER-FLEISCHER RINGS | AUTOSOMAL-DOMINANT INHERITANCE | CLINICAL NEUROLOGY | Dystonia - diagnosis | Dystonia - pathology | Humans | Age of Onset | Brain - pathology | Dystonia - physiopathology | Dystonia - etiology | Dystonia | Diagnosis
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8. Full Text Metabolomic profiling to develop blood biomarkers for Parkinson's disease
by Bogdanov, Mikhail and Matson, Wayne R and Wang, Lei and Matson, Theodore and Saunders-Pullman, Rachel and Bressman, Susan S and Beal, M. Flint
Brain, ISSN 0006-8950, 2/2008, Volume 131, Issue 2, pp. 389 - 396
The development of biomarkers for the diagnosis and monitoring disease progression in Parkinson's disease (PD) is of great importance since diagnosis based on... 
Biomarkers | Metabolomics | Parkinson's disease | Diagnosis | Neurodegeneration | OXIDATIVE STRESS | ABNORMALITIES | biomarkers | CLINICAL-DIAGNOSIS | neurodegeneration | diagnosis | ALPHA-SYNUCLEIN | NEUROSCIENCES | NEURODEGENERATIVE DISEASES | CLINICAL NEUROLOGY | ACCURACY | LIQUID-CHROMATOGRAPHY | metabolomics | H-1-NMR-BASED METABONOMICS | MITOCHONDRIAL DYSFUNCTION | FEATURES IMPROVE | Deoxyguanosine - blood | Chromatography, High Pressure Liquid - methods | Oxidative Stress | Humans | Middle Aged | Male | Parkinson Disease - drug therapy | Biomarkers - blood | Parkinson Disease - genetics | Antiparkinson Agents - therapeutic use | Parkinson Disease - diagnosis | Adult | Female | Uric Acid - blood | DNA Damage | Parkinson Disease - blood | Electrochemistry - methods | Deoxyguanosine - analogs & derivatives | Glutathione - blood
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9. Full Text Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
by Fuchs, Tania and Gavarini, Sophie and Saunders-Pullman, Rachel and Raymond, Deborah and Ehrlich, Michelle E and Bressman, Susan B and Ozelius, Laurie J
Nature Genetics, ISSN 1061-4036, 03/2009, Volume 41, Issue 3, pp. 286 - 288
We report the discovery of a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsion dystonia (also known as DYT6... 
DOMAIN | MODULE | PROTEIN | ZINC-FINGER | GENETICS & HEREDITY | DNA-Binding Proteins - physiology | Humans | Middle Aged | Molecular Sequence Data | Male | DNA-Binding Proteins - genetics | Sequence Homology, Nucleic Acid | Dystonia - genetics | Young Adult | Mutation, Missense - physiology | DNA Mutational Analysis | Base Sequence | Adolescent | Apoptosis Regulatory Proteins - genetics | Adult | Apoptosis Regulatory Proteins - physiology | Family | Female | Aged | Nuclear Proteins - physiology | Nuclear Proteins - genetics | Child | Cellular proteins | Gene mutations | Genetic aspects | Research | Dystonia | Health aspects | Risk factors | Proteins | Genetics | Mutation | Genes | Apoptosis
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10. Full Text When to start levodopa therapy for Parkinson's disease
by Bressman, Susan and Bressman, Susan and Saunders-Pullman, Rachel and Saunders-Pullman, Rachel
New England Journal of Medicine, ISSN 0028-4793, 01/2019, Volume 380, Issue 4, pp. 389 - 390
MEDICINE, GENERAL & INTERNAL | INITIAL TREATMENT
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11. Full Text Mutations in GNAL cause primary torsion dystonia
by Fuchs, Tania and Saunders-Pullman, Rachel and Masuho, Ikuo and Luciano, Marta San and Raymond, Deborah and Factor, Stewart and Lang, Anthony E and Liang, Tsao-Wei and Trosch, Richard M and White, Sierra and Ainehsazan, Edmond and Hervé, Denis and Sharma, Nutan and Ehrlich, Michelle E and Martemyanov, Kirill A and Bressman, Susan B and Ozelius, Laurie J
Nature Genetics, ISSN 1061-4036, 01/2013, Volume 45, Issue 1, pp. 88 - 92
Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures(1,2). Its molecular pathophysiology is poorly understood,... 
GENETIC-ANALYSIS | DYT1 DYSTONIA | ADENYLYL-CYCLASE | BASAL GANGLIA | MOUSE MODEL | GENETICS & HEREDITY | ADULT-ONSET | ASHKENAZI JEWS | CERVICAL DYSTONIA | AUTOSOMAL-DOMINANT INHERITANCE | MYOCLONUS-DYSTONIA | Amino Acid Sequence | Humans | Middle Aged | Molecular Sequence Data | GTP-Binding Protein alpha Subunits - genetics | Male | Dystonia Musculorum Deformans - genetics | Young Adult | Phenotype | Sequence Alignment | Adolescent | Age of Onset | Adult | Family | Female | Aged | Mutation | Child | Gene Order | Causes of | Genetic aspects | Dystonia | Gene mutations | Health aspects | Studies | Signal transduction | Genotype & phenotype | Health sciences | Dopamine | Womens health | Genes | Genetics | Genomes | Bioinformatics
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12. Full Text In memoriam: Robert E. Burke, MD, 1949–2018
by Fahn, Stanley and Sulzer, David and Kang, Un Jung and Bressman, Susan
Movement Disorders, ISSN 0885-3185, 01/2019, Volume 34, Issue 1, pp. 35 - 40
CLINICAL NEUROLOGY
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13. Dystonia
by Jankovic, Joseph
2005, 1st ed., World Federation of Neurology seminars in clinical neurology, ISBN 9781888799873, vii, 56
Dystonic Disorders | Dystonia
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14. Full Text Digitized Spiral Drawing: A Possible Biomarker for Early Parkinson’s Disease
by San Luciano, Marta and Wang, Cuiling and Ortega, Roberto A and Yu, Qiping and Boschung, Sarah and Soto-Valencia, Jeannie and Bressman, Susan B and Lipton, Richard B and Pullman, Seth and Saunders-Pullman, Rachel
PLOS ONE, ISSN 1932-6203, 10/2016, Volume 11, Issue 10, p. e0162799
Introduction Pre-clinical markers of Parkinson’s Disease (PD) are needed, and to be relevant in pre-clinical disease, they should be quantifiably abnormal in... 
Handwriting | Spirals | Parkinson's disease | Neurodegenerative diseases | Change detection | Abnormalities | Spatial discrimination | Parkinsons disease | Digitizing | Tightness | Digitizing tablets | Family medical history | Motor task performance | Smoothness | Medicine | Studies | Handedness | Neurology | Correlation analysis | Biomarkers | Digitization | Movement disorders
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15. Full Text The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease
by Gan-Or, Ziv and Ozelius, Laurie J and Bar-Shira, Anat and Saunders-Pullman, Rachel and Mirelman, Anat and Kornreich, Ruth and Gana-Weisz, Mali and Raymond, Deborah and Rozenkrantz, Liron and Deik, Andres and Gurevich, Tanya and Gross, Susan J and Schreiber-Agus, Nicole and Giladi, Nir and Bressman, Susan B and Orr-Urtreger, Avi
Neurology, ISSN 0028-3878, 04/2013, Volume 80, Issue 17, pp. 1606 - 1610
Objective: To study the possible association of founder mutations in the lysosomal storage disorder genes HEXA, SMPD1, and MCOLN1 (causing Tay-Sachs,... 
PATHOGENESIS | NIEMANN-PICK-DISEASE | DIAGNOSIS | GBA MUTATIONS | MOUSE MODEL | AUTOPHAGY | GLUCOCEREBROSIDASE MUTATIONS | ASSOCIATION | EXPRESSION | ONSET | CLINICAL NEUROLOGY | Founder Effect | Sphingomyelin Phosphodiesterase - genetics | Genetic Predisposition to Disease - genetics | Humans | Risk Factors | Female | Male | Aged | Mutation | Parkinson Disease - genetics | Reverse Transcriptase Polymerase Chain Reaction | 165
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