Paloma González-Pérez
Harvard University(US)Massachusetts General Hospital(US)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Amyotrophic Lateral Sclerosis Research, Genetic Neurodegenerative Diseases, Parkinson's Disease Mechanisms and Treatments, Mitochondrial Function and Pathology
Most-Cited Works
- → Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis(2012)594 cited
- → EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans(2012)299 cited
- → ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19(2013)144 cited
- → ALS ‐linked protein disulfide isomerase variants cause motor dysfunction(2016)115 cited
- → Peripheral arterial disease in patients with stages IV and V chronic renal failure(2006)84 cited
- → Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients(2015)77 cited
- → Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis(2012)71 cited
- → Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS(2012)26 cited
- → Phenotypic variability in a Spanish family with a Caveolin-3 mutation(2008)25 cited
- → Antisense oligonucleotide and adjuvant exercise therapy reverse fatigue in old mice with myotonic dystrophy(2020)23 cited