Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders

por Scholz, Sonja W., Bras, Jose
Publicado 2015

Factors impacting quality of life in multiple system atrophy

por Ali, Nabila, Nesspor, Vanessa, Bang, Jee, Scholz, Sonja W., Pantelyat, Alexander
Publicado 2023

Genetic players in multiple system atrophy: unfolding the nature of the beast

por Stemberger, Sylvia, Scholz, Sonja W., Singleton, Andrew B., Wenning, Gregor K.
Publicado 2011

TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia

por Geiger, Joshua T., Schindler, Alice B., Blauwendraat, Cornelis, Singer, Harvey S., Scholz, Sonja W.
Publicado 2017

Regional genetic correlations highlight relationships between neurodegenerative disease loci and the immune system

por Lona-Durazo, Frida, Reynolds, Regina H., Scholz, Sonja W., Ryten, Mina, Gagliano Taliun, Sarah A.
Publicado 2023

A case of familial frontotemporal dementia caused by a progranulin gene mutation

por Currens, Lauryn, Harrison, Nigel, Schmidt, Maria, Amjad, Halima, Mu, Weiyi, Scholz, Sonja W., Bang, Jee, Pantelyat, Alexander
Publicado 2023

Multiple system atrophy as emerging template for accelerated drug discovery in α-synucleinopathies

por Krismer, Florian, Jellinger, Kurt A., Scholz, Sonja W., Seppi, Klaus, Stefanova, Nadia, Antonini, Angelo, Poewe, Werner, Wenning, Gregor K.
Publicado 2014

Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases

por Reynolds, Regina H., Wagen, Aaron Z., Lona-Durazo, Frida, Scholz, Sonja W., Shoai, Maryam, Hardy, John, Gagliano Taliun, Sarah A., Ryten, Mina
Publicado 2023

Author Correction: Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases

por Reynolds, Regina H., Wagen, Aaron Z., Lona-Durazo, Frida, Scholz, Sonja W., Shoai, Maryam, Hardy, John, Gagliano Taliun, Sarah A., Ryten, Mina
Publicado 2023

Cognitive determinants of decisional capacity in neurodegenerative disorders

por Portley, Makayla, Sherer, Carolyn, Wu, Tianxia, Farren, Jennifer, Danielian, Laura E., Scholz, Sonja W., Traynor, Bryan J., Ward, Michael E., Haselhuhn, Taryn, Snyder, Allison, Kwan, Justin Y.
Publicado 2023

Divergent patterns of healthy aging across human brain regions at single-cell resolution reveal links to neurodegenerative disease

por Duffy, Megan F., Ding, Jinhui, Langston, Rebekah G., Shah, Syed I., Nalls, Mike A., Scholz, Sonja W., Whitaker, D. Thad, Auluck, Pavan K., Marenco, Stefano, Gibbs, J. Raphael, Cookson, Mark R.
Publicado 2023

Genetic risk factor clustering within and across neurodegenerative diseases

por Koretsky, Mathew J, Alvarado, Chelsea, Makarious, Mary B, Vitale, Dan, Levine, Kristin, Bandres-Ciga, Sara, Dadu, Anant, Scholz, Sonja W, Sargent, Lana, Faghri, Faraz, Iwaki, Hirotaka, Blauwendraat, Cornelis, Singleton, Andrew, Nalls, Mike, Leonard, Hampton
Publicado 2023

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene

por Toffoli, Marco, Chen, Xiao, Sedlazeck, Fritz J., Lee, Chiao-Yin, Mullin, Stephen, Higgins, Abigail, Koletsi, Sofia, Garcia-Segura, Monica Emili, Sammler, Esther, Scholz, Sonja W., Schapira, Anthony H. V., Eberle, Michael A., Proukakis, Christos
Publicado 2022

MAPT p.V363I mutation: A rare cause of corticobasal degeneration

por Ahmed, Sarah, Fairen, Monica Diez, Sabir, Marya S., Pastor, Pau, Ding, Jinhui, Ispierto, Lourdes, Butala, Ankur, Morris, Christopher M., Schulte, Claudia, Gasser, Thomas, Jabbari, Edwin, Pletnikova, Olga, Morris, Huw R., Troncoso, Juan, Gelpi, Ellen, Pantelyat, Alexander, Scholz, Sonja W.
Publicado 2019

Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis

por Calvo, Andrea, Canosa, Antonio, Moglia, Cristina, Manera, Umberto, Grassano, Maurizio, Vasta, Rosario, Palumbo, Francesca, Cugnasco, Paolo, Gallone, Salvatore, Brunetti, Maura, De Marchi, Fabiola, Arena, Vincenzo, Pagani, Marco, Dalgard, Clifton, Scholz, Sonja W., Chia, Ruth, Corrado, Lucia, Dalfonso, Sandra, Mazzini, Letizia, Traynor, Bryan J., Chio, Adriano
Publicado 2022

Investigation of the genetic aetiology of Lewy body diseases with and without dementia

por Wu, Lesley, Real, Raquel, Martinez, Alejandro, Chia, Ruth, Lawton, Michael A, Shoai, Maryam, Bresner, Catherine, Hubbard, Leon, Blauwendraat, Cornelis, Singleton, Andrew B, Ryten, Mina, Scholz, Sonja W., Traynor, Bryan J, Williams, Nigel, Hu, Michele T M, Ben-Shlomo, Yoav, Grosset, Donald G, Hardy, John, Morris, Huw R
Publicado 2023

Personality traits are consistently associated with blood mitochondrial DNA copy number estimated from genome sequences in two genetic cohort studies

por Oppong, Richard F, Terracciano, Antonio, Picard, Martin, Qian, Yong, Butler, Thomas J, Tanaka, Toshiko, Moore, Ann Zenobia, Simonsick, Eleanor M, Opsahl-Ong, Krista, Coletta, Christopher, Sutin, Angelina R, Gorospe, Myriam, Resnick, Susan M, Cucca, Francesco, Scholz, Sonja W, Traynor, Bryan J, Schlessinger, David, Ferrucci, Luigi, Ding, Jun
Publicado 2022

Identification and prediction of Parkinson’s disease subtypes and progression using machine learning in two cohorts

por Dadu, Anant, Satone, Vipul, Kaur, Rachneet, Hashemi, Sayed Hadi, Leonard, Hampton, Iwaki, Hirotaka, Makarious, Mary B., Billingsley, Kimberley J., Bandres‐Ciga, Sara, Sargent, Lana J., Noyce, Alastair J., Daneshmand, Ali, Blauwendraat, Cornelis, Marek, Ken, Scholz, Sonja W., Singleton, Andrew B., Nalls, Mike A., Campbell, Roy H., Faghri, Faraz
Publicado 2022

Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource

por Iwaki, Hirotaka, Leonard, Hampton L., Makarious, Mary B., Bookman, Matt, Landin, Barry, Vismer, David, Casey, Bradford, Gibbs, J. Raphael, Hernandez, Dena G., Blauwendraat, Cornelis, Vitale, Daniel, Song, Yeajin, Kumar, Dinesh, Dalgard, Clifton L., Sadeghi, Mahdiar, Dong, Xianjun, Misquitta, Leonie, Scholz, Sonja W., Scherzer, Clemens R., Nalls, Mike A., Biswas, Shameek, Singleton, Andrew B.
Publicado 2021

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

por Zanovello, Matteo, Ibáñez, Kristina, Brown, Anna-Leigh, Sivakumar, Prasanth, Bombaci, Alessandro, Santos, Liana, van Vugt, Joke J F A, Narzisi, Giuseppe, Karra, Ramita, Scholz, Sonja W, Ding, Jinhui, Gibbs, J Raphael, Chiò, Adriano, Dalgard, Clifton, Weisburd, Ben, Hanna, Michael G, Greensmith, Linda, Phatnani, Hemali, Veldink, Jan H, Traynor, Bryan J, Polke, James, Houlden, Henry, Fratta, Pietro, Tucci, Arianna
Publicado 2023