Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases

Autor: Nicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, Robert Krupnick, Chad Gwaltney, Nick Stephens, Julie Kissell, Gerald F. Cox, Tanya Fischer, Alaa Hamed

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)

Abstract Background The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) genes, respectivel

Externí odkaz: https://doaj.org/article/503b96c9ebf2418784da0cbb633c808e

Accelerating diagnosis of Parkinson’s disease through risk prediction

Autor: Brett K. Beaulieu-Jones, William Yuan, Bruno Leroy, Lee L. Rubin, Tanya Fischer, Nathan Palmer, Scott Lipnick, Catherine Coulouvrat, Karen J. Chandross, Caroline Cohen, Anne-Marie Wills, Richard C. Krolewski, Francesca Frau, Sylvie Bozzi, Isaac S. Kohane, Christine Veyrat-Follet, Dinesh Kumar, Meaghan Cogswell, S. Pablo Sardi

Publikováno v: BMC Neurology, Vol 21, Iss 1, Pp 1-12 (2021)
BMC Neurology

Background Characterization of prediagnostic Parkinson’s Disease (PD) and early prediction of subsequent development are critical for preventive interventions, risk stratification and understanding of disease pathology. This study aims to character

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c31070d9c1213331dba8ed3d5fead7a
https://doi.org/10.1186/s12883-021-02226-4

Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases

Autor: Tanya Fischer, Alaa Hamed, Ruth Pulikottil-Jacob, Robert Krupnick, Chad Gwaltney, Julie Kissell, Nicole Lyn, Camille Rochmann, Nick Stephens, Gerald F. Cox

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Orphanet Journal of Rare Diseases

Background The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) genes, respectively. A mino

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd2cca6e9a4a14847218f2657cc76152
https://doi.org/10.1186/s13023-020-01354-3

Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study

Autor: Tanya Simuni, Liz Uribe, Hyunkeun Ryan Cho, Chelsea Caspell-Garcia, Christopher S Coffey, Andrew Siderowf, John Q Trojanowski, Leslie M Shaw, John Seibyl, Andrew Singleton, Arthur W Toga, Doug Galasko, Tatiana Foroud, Duygu Tosun, Kathleen Poston, Daniel Weintraub, Brit Mollenhauer, Caroline M Tanner, Karl Kieburtz, Lana M Chahine, Alyssa Reimer, Samantha J Hutten, Susan Bressman, Kenneth Marek, Vanessa Arnedo, Adrienne Clark, Mark Fraiser, Catherine Kopil, Sohini Chowdhury, Todd Sherer, Nichole Daegele, Cynthia Casaceli, Ray Dorsey, Renee Wilson, Sugi Mahes, Christina Salerno, Karen Crawford, Paola Casalin, Giulia Malferrari, Mali Gani Weisz, Avi Orr-Urtreger, Thomas Montine, Chris Baglieri, Amanda Christini, David Russell, Nabila Dahodwala, Nir Giladi, Stewart Factor, Penelope Hogarth, David Standaert, Robert Hauser, Joseph Jankovic, Marie Saint-Hilaire, Irene Richard, David Shprecher, Hubert Fernandez, Katrina Brockmann, Liana Rosenthal, Paolo Barone, Alberto Espay, Dominic Rowe, Karen Marder, Anthony Santiago, Shu-Ching Hu, Stuart Isaacson, Jean-Christophe Corvol, Javiar Ruiz Martinez, Eduardo Tolosa, Yen Tai, Marios Politis, Debra Smejdir, Linda Rees, Karen Williams, Farah Kausar, Whitney Richardson, Diana Willeke, Shawnees Peacock, Barbara Sommerfeld, Alison Freed, Katrina Wakeman, Courtney Blair, Stephanie Guthrie, Leigh Harrell, Christine Hunter, Cathi-Ann Thomas, Raymond James, Grace Zimmerman, Victoria Brown, Jennifer Mule, Ella Hilt, Kori Ribb, Susan Ainscough, Misty Wethington, Madelaine Ranola, Helen Mejia Santana, Juliana Moreno, Deborah Raymond, Krista Speketer, Lisbeth Carvajal, Stephanie Carvalo, Ioana Croitoru, Alicia Garrido, Laura Marie Payne, Veena Viswanth, Lawrence Severt, Maurizio Facheris, Holly Soares, Mark A. Mintun, Jesse Cedarbaum, Peggy Taylor, Kevin Biglan, Emily Vandenbroucke, Zulfiqar Haider Sheikh, Baris Bingol, Tanya Fischer, Pablo Sardi, Remi Forrat, Alastair Reith, Jan Egebjerg, Gabrielle Ahlberg Hillert, Barbara Saba, Chris Min, Robert Umek, Joe Mather, Susan De Santi, Anke Post, Frank Boess, Kirsten Taylor, Igor Grachev, Andreja Avbersek, Pierandrea Muglia, Kaplana Merchant, Johannes Tauscher

Publikováno v: The Lancet. Neurology, vol 19, iss 1
Lancet Neurol

BackgroundThe Parkinson's Progression Markers Initiative (PPMI) is an ongoing observational, longitudinal cohort study of participants with Parkinson's disease, healthy controls, and carriers of the most common Parkinson's disease-related genetic mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9491293206b421c5d364e092f50f0b5a
https://escholarship.org/uc/item/6mc189cw

Natural history of late-onset GM2 gangliosidosis: Four years of data collected at NTSAD annual conferences

Autor: Christopher D. Stephen, Heather Lau, Alaa Hamed, Julie Kissell, Gerald F. Cox, Florian Eichler, Camille Rochmann, Pascal Minini, Tanya Fischer

Publikováno v: Molecular Genetics and Metabolism. 129:S136

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5cee5fe136ecba4d6b2b04ed70e1145e
https://doi.org/10.1016/j.ymgme.2019.11.357