R. Saunders-Pullman: search on Z-Library

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1

Seizure-related 6 homolog like 2 autoimmunity

Landa, Jon, Guasp, Mar, Petit-Pedrol, Mar, MartÃnez-HernÃ¡ndez, Eugenia, PlanagumÃ , JesÃºs, Saiz, Albert, Ruiz-GarcÃa, Raquel, GarcÃa-FernÃ¡ndez, Lorena, Verschuuren, Jan, Saunders-Pullman, Rachel

Journal:

Neurology: Neuroimmunology & Neuroinflammation

Year:

2021

File:

PDF, 768 KB

2021

2

Atypical presentation of late-onset Tay-sachs disease

Deik, Andres, Saunders-Pullman, Rachel

Journal:

Year:

2014

Language:

english

File:

PDF, 103 KB

english, 2014

3

Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry

Lee, Annie J., Wang, Yuanjia, Alcalay, Roy N., Mejia-Santana, Helen, Saunders-Pullman, Rachel, Bressman, Susan, Corvol, Jean-Christophe, Brice, Alexis, Lesage, Suzanne, Mangone, Graziella, Tolosa, Edu

Journal:

Movement Disorders

Year:

2017

Language:

english

File:

PDF, 262 KB

english, 2017

4

GENETICS OF DYSTONIA

Saunders-Pullman, Rachel

Journal:

CONTINUUM: Lifelong Learning in Neurology

Year:

2008

Language:

english

File:

PDF, 300 KB

english, 2008

5

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations

Deborah Raymond, Rachel Saunders-Pullman, Patricia de Carvalho Aguiar, Birgitt Schule, Norman Kock, Jennifer Friedman, Juliette Harris, Blair Ford, Steven Frucht, Gary A. Heiman, Danna Jennings, Dana

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 70 KB

english, 2008

6

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

7

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

8

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

9

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

10

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

11

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

12

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

Susan B Bressman, Deborah Raymond, Tania Fuchs, Gary A Heiman, Laurie J Ozelius, Rachel Saunders-Pullman

Journal:

The Lancet Neurology

Year:

2009

Language:

english

File:

PDF, 195 KB

english, 2009

13

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

14

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

15

Clinical expression of LRRK2 G2019S mutations in the elderly

Marta San Luciano, Richard B. Lipton, Cuiling Wang, Mindy Katz, Molly E. Zimmerman, Amy E. Sanders, Laurie J. Ozelius, Susan B. Bressman, Rachel Saunders-Pullman

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 163 KB

english, 2010

16

Endogenous estradiol is associated with verbal memory in nondemented older men

Molly E. Zimmerman, Richard B. Lipton, Nanette Santoro, Daniel S. McConnell, Carol A. Derby, Mindy J. Katz, Khosrow Baigi, Rachel Saunders-Pullman

Journal:

Brain and Cognition

Year:

2011

Language:

english

File:

PDF, 317 KB

english, 2011

17

Gender differences in the IL6 −174G>C and ESR2 1730G>A polymorphisms and the risk of Parkinson's disease

M. San Luciano, L. Ozelius, R.B. Lipton, D. Raymond, S.B. Bressman, R. Saunders-Pullman

Journal:

Neuroscience Letters

Year:

2012

Language:

english

File:

PDF, 202 KB

english, 2012

18

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

19

Responsiveness to levodopa in epsilon-sarcoglycan deletions

Marta San Luciano, Laurie Ozelius, Katherine Sims, Deborah Raymond, Liu Liu, Rachel Saunders-Pullman

Journal:

Movement Disorders

Year:

2009

Language:

english

File:

PDF, 905 KB

english, 2009

20

A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families

Christine Klein, Karla Schilling, Rachel J. Saunders-Pullman, Jennifer Garrels, Xandra O. Breakefield, Mitchell F. Brin, Deborah deLeon, Dana Doheny, Stanley Fahn, J. Stephen Fink, Lars Forsgren, Jenn

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 140 KB

english, 2000

21

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

22

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

23

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

24

Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia

Rachel Saunders-Pullman, Richard B. Lipton, Geetha Senthil, Mindy Katz, Camille Costan-Toth, Carol Derby, Susan Bressman, Joe Verghese, Laurie J. Ozelius

Journal:

Neuroscience Letters

Year:

2006

Language:

english

File:

PDF, 101 KB

english, 2006

25

Diagnostic criteria for dystonia in DYT1 families

Bressman, S. B., Raymond, D., Wendt, K., Saunders-Pullman, R., de Leon, D., Fahn, S., Ozelius, L., Risch, N.

Journal:

Year:

2002

Language:

english

File:

PDF, 181 KB

english, 2002

26

Life-long increase of substantia nigra hyperechogenicity in transcranial sonography

Johann Hagenah, Inke R. König, Jürgen Sperner, Lucas Wessel, Günter Seidel, Kelly Condefer, Rachel Saunders-Pullman, Christine Klein, Norbert Brüggemann

Journal:

Year:

2010

Language:

english

File:

PDF, 416 KB

english, 2010

27

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

28

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

Torbjoern G. Nygaard, Deborah Raymond, Caiping Chen, Ichizo Nishino, Paul E. Greene, Danna Jennings, Gary A. Heiman, Christine Klein, Rachel J. Saunders-Pullman, Patricia Kramer, Laurie J. Ozelius, Su

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 7.70 MB

english, 1999

29

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

30

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

31

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

32

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

33

Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease

Eduardo López-Laso, Katrin Beyer, Thomas Opladen, Rafael Artuch, Rachel Saunders-Pullman

Journal:

Pediatric Neurology

Year:

2012

Language:

english

File:

PDF, 119 KB

english, 2012

34

Endogenous estradiol is associated with verbal memory in nondemented older men

Zimmerman, Molly E., Lipton, Richard B., Santoro, Nanette, McConnell, Daniel S., Derby, Carol A., Katz, Mindy J., Biagi, Khosrow H., Saunders-Pullman, Rachel

Journal:

Alzheimer's & Dementia

Year:

2010

Language:

english

File:

PDF, 48 KB

english, 2010

35

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

36

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

37

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

38

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

39

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

40

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

Fuchs, Tania, Gavarini, Sophie, Saunders-Pullman, Rachel, Raymond, Deborah, Ehrlich, Michelle E, Bressman, Susan B, Ozelius, Laurie J

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 264 KB

english, 2009

41

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

42

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

Norbert Brüggemann, Johann Hagenah, Kaili Stanley, Christine Klein, Cuiling Wang, Deborah Raymond, Laurie Ozelius, Susan Bressman, Rachel Saunders-Pullman

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 661 KB

english, 2011

43

LRRK2 G2019S as a Cause of Parkinson's Disease in Ashkenazi Jews

Ozelius, Laurie J., Senthil, Geetha, Saunders-Pullman, Rachel, Ohmann, Erin, Deligtisch, Amanda, Tagliati, Michele, Hunt, Ann L., Klein, Christine, Henick, Brian, Hailpern, Susan M., Lipton, Richard B

Journal:

Boston Medical and Surgical Journal

Year:

2006

Language:

english

File:

PDF, 138 KB

english, 2006

44

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease

Alcalay, Roy N., Mejia-Santana, Helen, Mirelman, Anat, Saunders-Pullman, Rachel, Raymond, Deborah, Palmese, Christina, Caccappolo, Elise, Ozelius, Laurie, Orr-Urtreger, Avi, Clark, Lorraine, Giladi, N

Journal:

Parkinsonism & Related Disorders

Year:

2015

Language:

english

File:

PDF, 247 KB

english, 2015

45

Low-variance RNAs identify Parkinson's disease molecular signature in blood

Chikina, Maria D., Gerald, Christophe P., Li, Xianting, Ge, Yongchao, Pincas, Hanna, Nair, Venugopalan D., Wong, Aaron K., Krishnan, Arjun, Troyanskaya, Olga G., Raymond, Deborah, Saunders-Pullman, Ra

Journal:

Movement Disorders

Year:

2015

Language:

english

File:

PDF, 551 KB

english, 2015

46

Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families

L. Almasy, S. B. Bressman, D. Raymond, P. L. Kramer, P. E. Greene, G. A. Heiman, B. Ford, J. Yount, D. De Leon, S. Chouinard, R. Saunders-Pullman, M. F. Brin, R. P. Kapoor, A. C. Jones, H. Shen, S. Fa

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 417 KB

english, 1997

47

High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening

Hagenah, J., Saunders-Pullman, R., Hedrich, K., Kabakci, K., Habermann, K., Wiegers, K., Mohrmann, K., Lohnau, T., Raymond, D., Vieregge, P., Nygaard, T., Ozelius, L. J., Bressman, S. B., Klein, C.

Journal:

Year:

2005

Language:

english

File:

PDF, 454 KB

english, 2005

48

The Association Between ß-Glucocerebrosidase Mutations and Parkinsonism

Swan, Matthew, Saunders-Pullman, Rachel

Journal:

Current Neurology and Neuroscience Reports

Year:

2013

Language:

english

File:

PDF, 271 KB

english, 2013

49

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

50

Mood and cognition in leucine-rich repeat kinase 2 G2019S Parkinson's disease

Vicki Shanker, Mark Groves, Gary Heiman, Christina Palmese, Rachel Saunders-Pullman, Laurie Ozelius, Deborah Raymond, Susan Bressman

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 110 KB

english, 2011

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