Disclosure of Research Results in Genetic Studies of Parkinson Disease Due to LRRK2 Mutations

Por Pont-Sunyer, Claustre, Bressman, Susan, Raymond, Deborah, Glickman, Amanda, Tolosa, Eduardo, Saunders-Pullman, Rachel
Publicado no Mov Disord (2015)

DYT1 dystonia increases risk taking in humans

Por Arkadir, David, Radulescu, Angela, Raymond, Deborah, Lubarr, Naomi, Bressman, Susan B, Mazzoni, Pietro, Niv, Yael
Publicado no eLife (2016)

THAP1 (DYT6) mutations in early-onset primary dystonia

Por Bressman, Susan B., Raymond, Deborah, Fuchs, Tania, Heiman, Gary A., Ozelius, Laurie J., Saunders-Pullman, Rachel
Publicado em 2009

Metabolic changes in DYT11 myoclonus-dystonia

Por Carbon, Maren, Raymond, Deborah, Ozelius, Laurie, Saunders-Pullman, Rachel, Frucht, Steven, Dhawan, Vijay, Bressman, Susan, Eidelberg, David
Publicado em 2013

Mood and Cognition in Leucine-rich Repeat Kinase 2 G2019S Parkinson’s Disease

Por Shanker, Vicki, Groves, Mark, Heiman, Gary, Palmese, Christina, Saunders-Pullman, Rachel, Ozelius, Laurie, Raymond, Deborah, Bressman, Susan
Publicado em 2011

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

Por Brüggemann, Norbert, Hagenah, Johann, Stanley, Kaili, Klein, Christine, Wang, Cuiling, Raymond, Deborah, Ozelius, Laurie, Bressman, Susan, Saunders-Pullman, Rachel
Publicado em 2011

Clinical and Neurophysiological Improvement of SGCE Myoclonus-Dystonia with GPi Deep Brain Stimulation

Por Kurtis, Monica M, San Luciano, Marta, Yu, Qiping, Goodman, Robert R, Ford, Blair, Raymond, Deborah, Pullman, Seth, Saunders-Pullman, Rachel
Publicado em 2009

Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers

Por Deik, Andres F., O'Riordan, Sean, Luciano, Marta San, Shanker, Vicki L., Raymond, Deborah, Bressman, Susan B., Saunders-Pullman, Rachel
Publicado em 2012

Heterogeneity in primary dystonia: lessons from THAP1, GNAL and TOR1A in Amish-Mennonites

Por Saunders-Pullman, Rachel, Fuchs, Tania, San Luciano, Marta, Raymond, Deborah, Brashear, Alison, Ortega, Robert, Deik, Andres, Ozelius, Laurie J., Bressman, Susan B.
Publicado em 2014

Substantia Nigra Hyperechogenicity in DYT6 Dystonia: A Pilot Study

Por Saunders-Pullman, Rachel, Stanley, Kaili, Brüggemann, Norbert, Raymond, Deborah, Luciano, Marta San, Wang, Cuiling, Klein, Christine, Lubarr, Naomi, Ozelius, Laurie, Bressman, Susan B, Hagenah, Johann
Publicado em 2010

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

Por Sharma, Nutan, Franco, Ramon A, Kuster, John, Mitchell, Adele A., Fuchs, Tania, Saunders-Pullman, Rachel, Raymond, Deborah, Brin, Mitchell F., Blitzer, Andrew, Bressman, Susan B., Ozelius, Laurie J.
Publicado em 2010

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson’s disease

Por 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, Nir, Bressman, Susan, Marder, Karen
Publicado no Parkinsonism Relat Disord (2014)

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

Por Marder, Karen, Wang, Yuanjia, Alcalay, Roy N., Mejia-Santana, Helen, Tang, Ming-Xin, Lee, Annie, Raymond, Deborah, Mirelman, Anat, Saunders-Pullman, Rachel, Clark, Lorraine, Ozelius, Laurie, Orr-Urtreger, Avi, Giladi, Nir, Bressman, Susan
Publicado no Neurology (2015)

Olfactory identification in LRRK2 G2019S mutation carriers: a relevant marker?

Por Saunders-Pullman, Rachel, Mirelman, Anat, Wang, Cuiling, Alcalay, Roy N, San Luciano, Marta, Ortega, Robert, Raymond, Deborah, Mejia-Santana, Helen, Ozelius, Laurie, Clark, Lorraine, Orr-Utreger, Avi, Marder, Karen, Giladi, Nir, Bressman, Susan B
Publicado no Ann Clin Transl Neurol (2014)

Glucocerebrosidase Enzyme Activity in GBA Mutation Parkinson Disease

Por Ortega, Roberto A., Torres, Paola A., Swan, Matthew, Nichols, William, Boschung, Sarah, Raymond, Deborah, Barrett, Matthew J., Johannes, Brooke A., Severt, Lawrence, Shanker, Vicki, Hunt, Ann L., Bressman, Susan, Pastores, Gregory M., Saunders-Pullman, Rachel
Publicado no J Clin Neurosci (2016)

Interest in Genetic Testing in Ashkenazi Jewish Parkinson’s Disease Patients and Their Unaffected Relatives

Por Gupte, Manisha, Alcalay, Roy N., Mejia-Santana, Helen, Raymond, Deborah, Saunders-Pullman, Rachel, Roos, Ernest, Orbe-Reily, Martha, Tang, Ming-X, Mirelman, Anat, Ozelius, Laurie, Orr-Urtreger, Avi, Clark, Lorraine, Giladi, Nir, Bressman, Susan, Marder, Karen
Publicado no J Genet Couns (2014)

Low variance RNAs identify Parkinson’s disease molecular signature in blood

Por 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, Rachel, Bressman, Susan B., Yue, Zhenyu, Sealfon, Stuart C.
Publicado no Mov Disord (2015)

Non-motor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene

Por 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, Clark, Lorraine, Orr-Urtreger, Avi, Bressman, Susan, Marder, Karen, Giladi, Nir
Publicado no Mov Disord (2015)

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

Por Gan-Or, Ziv, Ozelius, Laurie J., Bar-Shira, Anat, Saunders-Pullman, Rachel, Mirelman, Anat, Kornreich, Ruth, Gana-Weisz, Mali, Raymond, Deborah, Rozenkrantz, Liron, Deik, Andres, Gurevich, Tanya, Gross, Susan J., Schreiber-Agus, Nicole, Giladi, Nir, Bressman, Susan B., Orr-Urtreger, Avi
Publicado em 2013

Mutations in GNAL cause primary torsion dystonia

Por 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, Herve, Denis, Sharma, Nutan, Ehrlich, Michelle E., Martemyanov, Kirill A., Bressman, Susan B., Ozelius, Laurie J.
Publicado em 2012