The existence of Aβ strains and their potential for driving phenotypic heterogeneity in Alzheimer’s disease von Lau, Heather H. C., Ingelsson, Martin, Watts, Joel C.

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α-Synuclein strains target distinct brain regions and cell types von Lau, Angus, So, Raphaella W. L., Lau, Heather H. C., Sang, Jason C., Ruiz-Riquelme, Alejandro, Fleck, Shelaine C., Stuart, Erica, Menon, Sindhu, Visanji, Naomi P., Meisl, Georg, Faidi, Rania, Marano, Maria M., Schmitt-Ulms, Cian, Wang, Zhilan, Fraser, Paul E., Tandon, Anurag, Hyman, Bradley T., Wille, Holger, Ingelsson, Martin, Klenerman, David, Watts, Joel C.

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Alpha-synuclein seeding shows a wide heterogeneity in multiple system atrophy von Martinez-Valbuena, Ivan, Visanji, Naomi P, Kim, Ain, Lau, Heather H C, So, Raphaella W L, Alshimemeri, Sohaila, Gao, Andrew, Seidman, Michael A, Luquin, Maria R, Watts, Joel C, Lang, Anthony E, Kovacs, Gabor G

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Mdm2 and MdmX RING Domains Play Distinct Roles in the Regulation of p53 Responses: A Comparative Study of Mdm2 and MdmX RING Domains in U2OS Cells von Egorova, Olga, Lau, Heather H. C., McGraphery, Kate, Sheng, Yi

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Discriminating Strains of Self-Propagating Protein Aggregates Using a Conformational Stability Assay von Lau, Heather H. C., Lau, Angus, Watts, Joel C.

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Application of CRISPR genetic screens to investigate neurological diseases von So, Raphaella W L, Chung, Sai Wai, Lau, Heather H C, Watts, Jeremy J, Gaudette, Erin, Al-Azzawi, Zaid A M, Bishay, Jossana, Lin, Lilian Tsai-Wei, Joung, Julia, Wang, Xinzhu, Schmitt-Ulms, Gerold

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Skeletal Muscle in Healthy Subjects versus Those with GNE-Related Myopathy: Evaluation with Shear-Wave US--A Pilot Study von Carpenter, Elizabeth L, Lau, Heather A, Kolodny, Edwin H, Adler, Ronald S

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Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease von Wilson, Genevieve E., Goldman, Deberah S., Saxe, Harriet, Li, Xiaochun, Goldberg, Judith D., Lau, Heather A., Abreu, Nicolas J.

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A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm von Jefferies, John L., Spencer, Alison K., Lau, Heather A., Nelson, Matthew W., Giuliano, Joseph D., Zabinski, Joseph W., Boussios, Costas, Curhan, Gary, Gliklich, Richard E., Warnock, David G.

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Prion-like propagation of β-amyloid aggregates in the absence of APP overexpression von Ruiz-Riquelme, Alejandro, Lau, Heather H C, Stuart, Erica, Goczi, Adrienn N, Wang, Zhilan, Schmitt-Ulms, Gerold, Watts, Joel C

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The G51D SNCA mutation generates a slowly progressive α-synuclein strain in early-onset Parkinson's disease von Lau, Heather H C, Martinez-Valbuena, Ivan, So, Raphaella W L, Mehra, Surabhi, Silver, Nicholas R G, Mao, Alison, Stuart, Erica, Schmitt-Ulms, Cian, Hyman, Bradley T, Ingelsson, Martin, Kovacs, Gabor G, Watts, Joel C

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Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus von Kishnani, Priya S., Al-Hertani, Walla, Balwani, Manisha, Göker-Alpan, Özlem, Lau, Heather A., Wasserstein, Melissa, Weinreb, Neal J., Grabowski, Gregory

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Aβ43 aggregates exhibit enhanced prion-like seeding activity in mice von Ruiz-Riquelme, Alejandro, Mao, Alison, Barghash, Marim M., Lau, Heather H. C., Stuart, Erica, Kovacs, Gabor G., Nilsson, K. Peter R., Fraser, Paul E., Schmitt-Ulms, Gerold, Watts, Joel C.

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Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII von Lau, Heather A., Viskochil, David, Tanpaiboon, Pranoot, Lopez, Antonio Gonzalez-Meneses, Martins, Esmeralda, Taylor, Julie, Malkus, Betsy, Zhang, Lin, Jurecka, Agnieszka, Marsden, Deborah

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Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey von Lau, Heather, Harmatz, Paul, Botha, Jaco, Audi, Jennifer, Link, Bianca

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The natural history of Canavan disease: 23 new cases and comparison with patients from literature von Bley, Annette, Denecke, Jonas, Kohlschuetter, Alfried, Schoen, Gerhard, Hischke, Sandra, Guder, Philipp, Bierhals, Tatjana, Lau, Heather, Hempel, Maja, Eichler, Florian S.

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Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial von Hendriksz, Christian J, Giugliani, Roberto, Harmatz, Paul, Mengel, Eugen, Guffon, Nathalie, Valayannopoulos, Vassili, Parini, Rossella, Hughes, Derralynn, Pastores, Gregory M, Lau, Heather A, Al-Sayed, Moeenaldeen D, Raiman, Julian, Yang, Ke, Mealiffe, Matthew, Haller, Christine

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Novel Nonsense Calmodulin‐Binding Transcription Activator 1 Mutation Presenting as a Tremor‐Predominant Phenotype von Agarwal, Shashank, Gilbert, Rebecca, Lau, Heather A.

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Impact of SARS-CoV-2 on patients with lysosomal diseases in a major NYC hospital system von Lau, Heather A.

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Patients with Gaucher disease display systemic oxidative stress dependent on therapy status von Kartha, Reena V., Terluk, Marcia R., Brown, Roland, Travis, Abigail, Mishra, Usha R., Rudser, Kyle, Lau, Heather, Jarnes, Jeanine R., Cloyd, James C., Weinreb, Neal J.

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