Description of Research Expertise:
Dr. Gonzalez-Alegre is a highly committed clinician-scientist who directs a laboratory devoted to the investigation of the neurobiological bases and therapeutics of dystonia. For his research efforts, funded through federal and private sources, he has been recognized with 2003 S Weir Mitchell Award of the American Academy of Neurology, the 2004 Junior Award for Excellence in Basic Science Research from the Movement Disorders Society, the 2012 Jon Stolk Award in Movement Disorders from the American Academy of Neurology, and the 2012 Stanley Fahn Award from the Dystonia Medical Research Foundation. He is also Co-Director for Clinical Programs of the Raymond G. Perelman Center for Cellular & Molecular Therapy at the Children Hospital of Philadelphia, involved in translational efforts to advance novel molecular therapies for various neurological diseases to early phase clinical trials.
Gonzalez-Alegre P.: Advances in cell biology of dystonia: Focus on torsinA Neurobiology of Disease 127 : 233-241,2019.
Beauvais G, Watson JL, Aguirre JA, Tecedor L, Ehrlich ME, Gonzalez-Alegre P.: Efficient RNA interference-based knockdown of mutant torsinA reveals reversibility of PERK-eIF2α pathway dysregulation in DYT1 transgenic rats in vivo. Brain Research 1706 : 24-31,2019.
Bardakjian TM, Faulkner-Naczi K, Gonzalez-Alegre P: Attitudes of Potential Subjects Towards Molecular Therapy Trials in Huntington's Disease Journal of Huntington's Disease 8 (1): 79,2019.
Maguire JA, Gagne AL, Gonzalez-Alegre P, Davidson BL, Shakkottai V, Gadue P, French DL.: Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene. Stem Cell Research 34 : 2019.
Narendra DP, Isonaka R, Nguyen D, Schindler A, Kokkinis A, Ehrlich1 D Bardakjian TM, Goldstein D, Liang TW, Gonzalez-Alegre P: Peripheral synucleinopathy and anosmia in a patient with Parkinson Disease and DJ1 mutations Neurology : 2019.
Hitti FL, Gonzalez-Alegre P, Lucas TH.: Gene Therapy for Neurological Disease: A Neurosurgical Review. World Neurosurgery : 2018.
Schultz JL, Nopoulos PC, Gonzalez-Alegre P.: Human Immunodeficiency Virus Infection in Huntington's Disease is Associated with an Earlier Age of Symptom Onset. Journal of Huntington's Disease 7 (2): 163-166,2018.
Bardakjian TM, Helbig I, Quinn C, Elman LB, McCluskey LF, Scherer SS, Gonzalez-Alegre P.: Genetic test utilization and diagnostic yield in adult patients with neurological disorders. Neurogenetics 19 (2): 105-110,2018.
Zakirova Z, Fanutza T, Bonet J, Readhead B, Zhang W, Yi Z, Beauvais G, Zwaka TP, Ozelius LJ, Blitzer RD, Gonzalez-Alegre P and Ehrlich ME: Mutations in THAP1/DYT6 Reveal that Diverse Dystonia Genes Disrupt Similar Neuronal Pathways and Functions PLoS Genetics : 2018.
Bardakjian T, Gonzalez-Alegre P.: Towards precision medicine. Handb Clin Neurol 147 : 93-102,2018.