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51

Metabolomic profiling to develop blood biomarkers for Parkinson's disease

Bogdanov, M., Matson, W. R., Wang, L., Matson, T., Saunders-Pullman, R., Bressman, S. S., Beal, M. F.

Journal:

Year:

2008

Language:

english

File:

PDF, 299 KB

english, 2008

52

Compound heterozygousPNPLA6mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia

Deik, A., Johannes, B., Rucker, J. C., Sánchez, E., Brodie, S. E., Deegan, E., Landy, K., Kajiwara, Y., Scelsa, S., Saunders-Pullman, R., Paisán-Ruiz, C.

Journal:

Journal of Neurology

Year:

2014

Language:

english

File:

PDF, 2.11 MB

english, 2014

53

Age at onset as a factor in determining the phenotype of primary torsion dystonia

O'Riordan, S., Raymond, D., Lynch, T., Saunders-Pullman, R., Bressman, S. B., Daly, L., Hutchinson, M.

Journal:

Year:

2004

Language:

english

File:

PDF, 144 KB

english, 2004

54

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

Gan-Or, Z., Ozelius, L. J., Bar-Shira, A., Saunders-Pullman, R., Mirelman, A., Kornreich, R., Gana-Weisz, M., Raymond, D., Rozenkrantz, L., Deik, A., Gurevich, T., Gross, S. J., Schreiber-Agus, N., Gi

Journal:

Year:

2013

Language:

english

File:

PDF, 207 KB

english, 2013

55

Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium

Marder, K., Wang, Y., Alcalay, R. N., Mejia-Santana, H., Tang, M.-X., Lee, A., Raymond, D., Mirelman, A., Saunders-Pullman, R., Clark, L., Ozelius, L., Orr-Urtreger, A., Giladi, N., Bressman, S.

Journal:

Year:

2015

Language:

english

File:

PDF, 341 KB

english, 2015

56

Mutations in GNAL cause primary torsion dystonia

Fuchs, Tania, Saunders-Pullman, Rachel, Masuho, Ikuo, Luciano, Marta San, Raymond, Deborah, Factor, Stewart, Lang, Anthony E, Liang, Tsao-Wei, Trosch, Richard M, White, Sierra, Ainehsazan, Edmond, Her

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 699 KB

english, 2012

57

Ataxia-telangiectasia: Without ataxia or telangiectasia?

Saunders-Pullman, R. J., Gatti, R.

Journal:

Year:

2009

Language:

english

File:

PDF, 151 KB

english, 2009

58

Sensory abnormalities in unaffected relatives in familial adult-onset dystonia

O'Dwyer, J. P., O'Riordan, S., Saunders-Pullman, R., Bressman, S. B., Molloy, F., Lynch, T., Hutchinson, M.

Journal:

Year:

2005

Language:

english

File:

PDF, 140 KB

english, 2005

59

Metabolic changes in DYT11 myoclonus-dystonia

Carbon, M., Raymond, D., Ozelius, L., Saunders-Pullman, R., Frucht, S., Dhawan, V., Bressman, S., Eidelberg, D.

Journal:

Year:

2013

Language:

english

File:

PDF, 445 KB

english, 2013

60

Dominantly transmitted focal dystonia in families of patients with musician's cramp

Schmidt, A., Jabusch, H. -C., Altenmuller, E., Hagenah, J., Bruggemann, N., Hedrich, K., Saunders-Pullman, R., Bressman, S. B., Kramer, P. L., Klein, C.

Journal:

Year:

2006

Language:

english

File:

PDF, 233 KB

english, 2006

61

A new screening tool for cervical dystonia

Saunders-Pullman, R., Soto-Valencia, J., Costan-Toth, C., Shriberg, J., Raymond, D., Derby, C. A., Lipton, R. B., Bressman, S. B.

Journal:

Year:

2005

Language:

english

File:

PDF, 129 KB

english, 2005

62

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers

Heiman, G. A., Ottman, R., Saunders-Pullman, R. J., Ozelius, L. J., Risch, N. J., Bressman, S. B.

Journal:

Year:

2004

Language:

english

File:

PDF, 198 KB

english, 2004

63

Myoclonus dystonia: Possible association with obsessive-compulsive disorder and alcohol dependence

Saunders-Pullman, R., Shriberg, J., Heiman, G., Raymond, D., Wendt, K., Kramer, P., Schilling, K., Kurlan, R., Klein, C., Ozelius, L. J., Risch, N. J., Bressman, S. B.

Journal:

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

64

Etiology of musician's dystonia: Familial or environmental?

Schmidt, A., Jabusch, H. -C., Altenmuller, E., Hagenah, J., Bruggemann, N., Lohmann, K., Enders, L., Kramer, P. L., Saunders-Pullman, R., Bressman, S. B., Munchau, A., Klein, C.

Journal:

Year:

2009

Language:

english

File:

PDF, 605 KB

english, 2009

65

Olfactory dysfunction in LRRK2 G2019S mutation carriers

Saunders-Pullman, R., Stanley, K., Wang, C., San Luciano, M., Shanker, V., Hunt, A., Severt, L., Raymond, D., Ozelius, L. J., Lipton, R. B., Bressman, S. B.

Journal:

Year:

2011

Language:

english

File:

PDF, 444 KB

english, 2011

66

Nonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene

Mirelman, Anat, Alcalay, Roy N., Saunders-Pullman, Rachel, Yasinovsky, Kira, Thaler, Avner, Gurevich, Tanya, Mejia-Santana, Helen, Raymond, Deborah, Gana-Weisz, Mali, Bar-Shira, Anat, Ozelius, Laurie,

Journal:

Movement Disorders

Year:

2015

Language:

english

File:

PDF, 187 KB

english, 2015

67

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers

Hess, C. W., Raymond, D., Aguiar, P. d. C., Frucht, S., Shriberg, J., Heiman, G. A., Kurlan, R., Klein, C., Bressman, S. B., Ozelius, L. J., Saunders-Pullman, R.

Journal:

Year:

2007

Language:

english

File:

PDF, 168 KB

english, 2007

68

Secondary orthostatic tremor in the setting of cerebellar degeneration

Sarva, Harini, Severt, William Lawrence, Jacoby, Nuri, Pullman, Seth L., Saunders-Pullman, Rachel

Journal:

Journal of Clinical Neuroscience

Year:

2016

Language:

english

File:

PDF, 495 KB

english, 2016

69

Disclosure of research results in genetic studies of Parkinson's disease caused by LRRK2 mutations

Pont-Sunyer, Claustre, Bressman, Susan, Raymond, Deborah, Glickman, Amanda, Tolosa, Eduardo, Saunders-Pullman, Rachel

Journal:

Movement Disorders

Year:

2015

Language:

english

File:

PDF, 181 KB

english, 2015

70

REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers

Saunders-Pullman, Rachel, Alcalay, Roy N., Mirelman, Anat, Wang, Cuiling, Luciano, Marta San, Ortega, Roberto A., Glickman, Amanda, Raymond, Deborah, Mejia-Santana, Helen, Doan, Nancy, Johannes, Brook

Journal:

Movement Disorders

Year:

2015

Language:

english

File:

PDF, 175 KB

english, 2015

71

Arm swing as a potential new prodromal marker of Parkinson's disease

Mirelman, Anat, Bernad-Elazari, Hagar, Thaler, Avner, Giladi-Yacobi, Eytan, Gurevich, Tanya, Gana-Weisz, Mali, Saunders-Pullman, Rachel, Raymond, Deborah, Doan, Nancy, Bressman, Susan B., Marder, Kare

Journal:

Movement Disorders

Year:

2016

Language:

english

File:

PDF, 358 KB

english, 2016

72

Psychiatric disorders, myoclonus dystonia and SGCE : an international study

Peall, Kathryn J., Dijk, Joke M., Saunders-Pullman, Rachel, Dreissen, Yasmine E. M., van Loon, Ilke, Cath, Danielle, Kurian, Manju A., Owen, Michael J., Foncke, Elisabeth M. J., Morris, Huw R., Gasser

Journal:

Annals of Clinical and Translational Neurology

Year:

2016

Language:

english

File:

PDF, 152 KB

english, 2016

73

FEWDON-MND syndrome (finger extension weakness and downbeat nystagmus): A novel motor neuron disorder?

Delva, Aline, Thakore, Nimish, Pioro, Erik, Poesen, Koen, Saunders-Pullman, Rachel, Meijer, Inge A., Rucker, Janet C., Kissel, John T., Van Damme, Philip

Journal:

Year:

2017

Language:

english

File:

PDF, 611 KB

english, 2017

74

Cognitive and Motor Functioning in Elderly Glucocerebrosidase (GBA) Mutation Carriers

Moran, Eileen E., Wang, Cuiling, Katz, Mindy, Ozelius, Laurie, Schwartz, Alison, Pavlovic, Jelena, Ortega, Roberto A., Lipton, Richard B., Zimmerman, Molly E., Saunders-Pullman, Rachel

Journal:

Neurobiology of Aging

Year:

2017

Language:

english

File:

PDF, 342 KB

english, 2017

75

Sex differences in LRRK2 G2019S and idiopathic Parkinson's Disease

San Luciano, Marta, Wang, Cuiling, Ortega, Roberto A., Giladi, Nir, Marder, Karen, Bressman, Susan, Saunders-Pullman, Rachel

Journal:

Annals of Clinical and Translational Neurology

Year:

2017

Language:

english

File:

PDF, 118 KB

english, 2017

76

Progression in the LRRK2 -Asssociated Parkinson Disease Population

Saunders-Pullman, Rachel, Mirelman, Anat, Alcalay, Roy N., Wang, Cuiling, Ortega, Roberto A., Raymond, Deborah, Mejia-Santana, Helen, Orbe-Reilly, Martha, Johannes, Brooke A., Thaler, Avner, Ozelius,

Journal:

Year:

2018

Language:

english

File:

PDF, 343 KB

english, 2018

77

Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease

Jian, Jinlong, Chen, Yuehong, Liberti, Rossella, Fu, Wenyu, Hu, Wenhuo, Saunders-Pullman, Rachel, Pastores, Gregory M., Chen, Ying, Sun, Ying, Grabowski, Gregory A., Liu, Chuan-ju

Journal:

Year:

2018

Language:

english

File:

PDF, 1.92 MB

english, 2018

78

Chitinase-3-like protein 1: a novel biomarker for Gaucher disease

Jian, Jinlong, Chen, Yuehong, Liberti, Rossella, Fu, Wenyu, Hu, Wenhuo, Saunders-Pullman, Rachel, Pastores, Gregory, Chen, Ying, Liu, Chuanju

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 51 KB

english, 2018

79

Application of the Movement Disorder Society prodromal criteria in healthy G2019S - LRRK2 carriers

Mirelman, Anat, Saunders-Pullman, Rachel, Alcalay, Roy N., Shustak, Shiran, Thaler, Avner, Gurevich, Tanya, Raymond, Deborah, Mejia-Santana, Helen, Orbe Reilly, Martha, Ozelius, Laurie, Clark, Lorrain

Journal:

Movement Disorders

Year:

2018

Language:

english

File:

PDF, 401 KB

english, 2018

80

Inflammatory Bowel Disease and Parkinson’s Disease: A Nationwide Swedish Cohort Study

Weimers, Petra, Halfvarson, Jonas, Sachs, Michael C, Saunders-Pullman, Rachel, Ludvigsson, Jonas F, Peter, Inga, Burisch, Johan, Olén, Ola

Journal:

Inflammatory Bowel Diseases

Year:

2018

Language:

english

File:

PDF, 483 KB

english, 2018

81

Digitized spiral analysis may be a potential biomarker for brachial dystonia

Ratliff, Jeffrey, Ortega, Roberto A., Ooi, Hwai Yin, Mirallave, Ana, Glickman, Amanda, Yu, Qiping, Raymond, Deborah, Bressman, Susan, Pullman, Seth, Saunders-Pullman, Rachel

Journal:

Parkinsonism & Related Disorders

Year:

2018

Language:

english

File:

PDF, 829 KB

english, 2018

82

Increased substantia nigra echogenicity in LRRK2 family members without mutations

Pullman, Mariel, Ortega, Roberto, Glickman, Amanda, Deik, Andres, Raymond, Deborah, Marder, Karen, Giladi, Nir, Bressman, Susan, Hagenah, Johann, Brüggemann, Norbert, Saunders-Pullman, Rachel

Journal:

Movement Disorders

Year:

2018

Language:

english

File:

PDF, 339 KB

english, 2018

83

Repeated Spiral Drawings in Essential Tremor: a Possible Limb-Based Measure of Motor Learning

Kim, Christine Y., Luo, Lan, Yu, Qiping, Mirallave, Ana, Saunders-Pullman, Rachel, Lipton, Richard B., Louis, Elan D., Pullman, Seth L.

Journal:

Year:

2018

Language:

english

File:

PDF, 1.84 MB

english, 2018

84

Evidence for increased completed suicide in first-degree relatives of LRRK2 G2019S mutation Parkinson’s disease

Ortega, Roberto Angel, Groves, Mark, Mirelman, Anat, Alcalay, Roy N, Raymond, Deborah, Elango, Sonya, Mejia-Santana, Helen, Giladi, Nir, Marder, Karen, Bressman, Susan B, Saunders-Pullman, Rachel

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2018

Language:

english

File:

PDF, 122 KB

english, 2018

85

Differential mobility spectrometry as an orthogonal separation to LC-ESI-MS/MS for quantification of isomeric cerebrosides in plasma and cerebrospinal fluid

Xu, Hongbin, Boucher, Frederic R., Nguyen, Thao T., Taylor, Graeme P., Tomlinson, Julianna, Ortega, Roberto A., Simons, Brigitte, Schlossmacher, Michael, Saunders-Pullman, Rachel, Shaw, Walt, Bennett,

Journal:

The Journal of Lipid Research

Year:

2018

Language:

english

File:

PDF, 1.71 MB

english, 2018

86

Inflammatory Bowel Disease and Parkinson’s Disease: A Reply to Letter to the Editor of Shih-Wei Lai

Weimers, Petra, Halfvarson, Jonas, Saunders-Pullman, Rachel, Ludvigsson, Jonas F, Peter, Inga, Olén, Ola, Burisch, Johan

Journal:

Inflammatory Bowel Diseases

Year:

2019

Language:

english

File:

PDF, 85 KB

english, 2019

87

Pediatric Movement Disorders

Saunders-Pullman, Rachel, Braun, Ilana, Bressman, Susan

Journal:

Child and Adolescent Psychiatric Clinics of North America

Year:

1999

Language:

english

File:

PDF, 3.05 MB

english, 1999

88

Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition

Arystarkhova, Elena, Haq, Ihtsham U., Luebbert, Timothy, Mochel, Fanny, Saunders-Pullman, Rachel, Bressman, Susan B., Feschenko, Polina, Salazar, Cynthia, Cook, Jared F., Demarest, Scott, Brashear, Al

Journal:

Neurobiology of Disease

Year:

2019

Language:

english

File:

PDF, 2.41 MB

english, 2019

89

LRRK2 and GBA Variants Exert Distinct Influences on Parkinson’s Disease-Specific Metabolic Networks

Schindlbeck, Katharina A, Vo, An, Nguyen, Nha, Tang, Chris C, Niethammer, Martin, Dhawan, Vijay, Brandt, Vicky, Saunders-Pullman, Rachel, Bressman, Susan B, Eidelberg, David

Journal:

Cerebral Cortex

Year:

2019

File:

PDF, 1.00 MB

2019

90

Genetic testing for Parkinson disease

Cook, Lola, Schulze, Jeanine, Kopil, Catherine, Hastings, Tara, Naito, Anna, Wojcieszek, Joanne, Payne, Katelyn, Alcalay, Roy N., Klein, Christine, Saunders-Pullman, Rachel, Simuni, Tatyana, Foroud, T

Journal:

Neurology Clinical Practice

Year:

2020

Language:

english

File:

PDF, 710 KB

english, 2020

91

Differences in performance on English and Hebrew versions of the MoCA in Parkinson's patients

Xu, Yaqian, Mirelman, Anat, Saunders-Pullman, Rachel, Mejia-Santana, Helen, Caccappolo, Elise, Raymond, Deborah, Giladi, Nir, Bressman, Susan, Marder, Karen, Alcalay, Roy N.

Journal:

Clinical Parkinsonism & Related Disorders

Year:

2020

File:

PDF, 263 KB

2020

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