DYT1 Knock-In Mice Are Not Sensitized against Mitochondrial Complex-II Inhibition

por Bode, Nicole, Massey, Cory, Gonzalez-Alegre, Pedro
Publicado 2012

Clinical, Etiological, and Therapeutic Features of Jaw-opening and Jaw-closing Oromandibular Dystonias: A Decade of Experience at a Single Treatment Center

por Gonzalez-Alegre, Pedro, Schneider, Robert L., Hoffman, Henry
Publicado 2014

Biallelic TOR1A variants in an infant with severe arthrogryposis

por Reichert, Sara Chadwick, Gonzalez-Alegre, Pedro, Scharer, Gunter H.
Publicado 2017

Attitudes of Potential Participants Towards Molecular Therapy Trials in Huntington’s Disease

por Bardakjian, Tanya M., Naczi, Kaylee Faulkner, Gonzalez-Alegre, Pedro
Publicado 2019

Healthcare delivery via telehealth during the COVID-19 pandemic: The experience of a Huntington’s disease clinic

por Klapper, Jennifer, Bardakjian, Tanya, Sigal, Ian, Muralidharan, Kavitha, Gonzalez-Alegre, Pedro
Publicado 2021

Splice Isoforms of the Polyglutamine Disease Protein Ataxin-3 Exhibit Similar Enzymatic yet Different Aggregation Properties

por Harris, Ginny Marie, Dodelzon, Katerina, Gong, Lijie, Gonzalez-Alegre, Pedro, Paulson, Henry L.
Publicado 2010

RNAi prevents and reverses phenotypes induced by mutant human ataxin‐1

por Keiser, Megan S., Monteys, Alejandro Mas, Corbau, Romuald, Gonzalez‐Alegre, Pedro, Davidson, Beverly L.
Publicado 2016

Inpatient gastrostomy in Huntington's disease: Nationwide analysis of utilization and outcomes compared to amyotrophic lateral sclerosis

por Hamedani, Ali G., Pauly, Meredith, Thibault, Dylan P., Gonzalez-Alegre, Pedro, Willis, Allison W.
Publicado 2020

Lethal toxicity caused by expression of shRNA in the mouse striatum: implications for therapeutic design

por Martin, Janine N, Wolken, Nicolle, Brown, Timothy, Dauer, William T, Ehrlich, Michelle E, Gonzalez-Alegre, Pedro
Publicado 2011

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

por Robbins, Nathaniel M., Ozmore, Jillian R., Winder, Thomas L., Gonzalez-Alegre, Pedro, Bardakjian, Tanya M.
Publicado 2020

DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing

por Fang, Li, Liu, Qian, Monteys, Alex Mas, Gonzalez-Alegre, Pedro, Davidson, Beverly L., Wang, Kai
Publicado 2022

Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment

por Park, Joseph, Damrauer, Scott M., Baras, Aris, Reid, Jeffrey G., Overton, John D., Gonzalez-Alegre, Pedro
Publicado 2019

Design and Validation of a Multi-Point Injection Technology for MR-Guided Convection Enhanced Delivery in the Brain

por Prezelski, Kayla, Keiser, Megan, Stein, Joel M., Lucas, Timothy H., Davidson, Beverly, Gonzalez-Alegre, Pedro, Vitale, Flavia
Publicado 2021

Predicting Severity of Huntington's Disease With Wearable Sensors

por Scheid, Brittany H., Aradi, Stephen, Pierson, Robert M., Baldassano, Steven, Tivon, Inbar, Litt, Brian, Gonzalez-Alegre, Pedro
Publicado 2022

Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing

por Fang, Li, Monteys, Alex Mas, Dürr, Alexandra, Keiser, Megan, Cheng, Congsheng, Harapanahalli, Akhil, Gonzalez-Alegre, Pedro, Davidson, Beverly L., Wang, Kai
Publicado 2023

Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing

por Fang, Li, Monteys, Alex Mas, Dürr, Alexandra, Keiser, Megan, Cheng, Congsheng, Harapanahalli, Akhil, Gonzalez-Alegre, Pedro, Davidson, Beverly L., Wang, Kai
Publicado 2022

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

por Gonzalez-Alegre, Pedro, Di Paola, Jorge, Wang, Kai, Fabbro, Shay, Yu, Hung-Chun, Shaikh, Tamim H., Darbro, Benjamin W., Bassuk, Alexander G.
Publicado 2014

Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation

por Hsiao, Cheng-Tsung, Tropea, Thomas F., Fu, Ssu-Ju, Bardakjian, Tanya M., Gonzalez-Alegre, Pedro, Soong, Bing-Wen, Tang, Chih-Yung, Jeng, Chung-Jiuan
Publicado 2021

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

por Zakirova, Zuchra, Fanutza, Tomas, Bonet, Justine, Readhead, Ben, Zhang, Weijia, Yi, Zhengzi, Beauvais, Genevieve, Zwaka, Thomas P., Ozelius, Laurie J., Blitzer, Robert D., Gonzalez-Alegre, Pedro, Ehrlich, Michelle E.
Publicado 2018

Microdystrophin Expression as a Surrogate Endpoint for Duchenne Muscular Dystrophy Clinical Trials

por Chamberlain, Jeffrey S., Robb, Melissa, Braun, Serge, Brown, Kristy J., Danos, Olivier, Ganot, Annie, Gonzalez-Alegre, Pedro, Hunter, Nina, McDonald, Craig, Morris, Carl, Tobolowsky, Mark, Wagner, Kathryn R., Ziolkowski, Olivia, Duan, Dongsheng
Publicado 2023