Pandolfo, Massimo

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 2,786

Scale for the assessment and rating of ataxia: Development of a new clinical scale

Schmitz-Hübsch, T., du Montcel, S. T., Baliko, L., Berciano, J., Boesch, S., Depondt, C., Giunti, P., Globas, C., Infante, J., Kang, J. S., et al. (2006) · Neurology

Genetic Neurodegenerative DiseasesBalance, Gait, and Falls Prevention

Cited by 1,967

Siponimod versus placebo in secondary progressive multiple sclerosis (EXPAND): a double-blind, randomised, phase 3 study

Kappos, L., Bar-Or, A., Cree, B. A. C., Fox, R. J., Giovannoni, G., Gold, R., Vermersch, P., Arnold, D. L., Arnould, S., Scherz, T., et al. (2018) · The Lancet

Multiple Sclerosis Research StudiesSphingolipid Metabolism and Signaling

Cited by 942

Regulation of Mitochondrial Iron Accumulation by Yfh1p, a Putative Homolog of Frataxin

Babcock, M., de Silva, D., Oaks, R., Davis-Kaplan, S., Jiralerspong, S., Montermini, L., Pandolfo, M., & Kaplan, J. (1997) · Science

Mitochondrial Function and PathologyNeurological diseases and metabolism

Cited by 921

Common genetic variants influence human subcortical brain structures

Initiative, T. A. D. N., Hibar, D. P., The CHARGE Consortium, EPIGEN, IMAGEN, SYS, Stein, J. L., Renteria, M. E., Arias-Vasquez, A., Desrivières, S., et al. (2015) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 858

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

the Alzheimer’s Disease Neuroimaging Initiative, E. C., Thompson, P. M., Stein, J. L., Medland, S. E., Hibar, D. P., Vasquez, A. A., Renteria, M. E., Toro, R., Jahanshad, N., Schumann, G., et al. (2014) · Brain Imaging and Behavior

Genetic Associations and EpidemiologyFunctional Brain Connectivity Studies

Cited by 838

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Dibbens, L. M., de Vries, B., Donatello, S., Heron, S. E., Hodgson, B. L., Chintawar, S., Crompton, D. E., Hughes, J. N., Bellows, S. T., Klein, K. M., et al. (2013) · Nature Genetics

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 373

Sticky DNA

Sakamoto, N., Chastain, P. D., Parniewski, P., Ohshima, K., Pandolfo, M., Griffith, J. D., & Wells, R. D. (1999) · Molecular Cell

Genetic Neurodegenerative DiseasesDNA and Nucleic Acid Chemistry

Cited by 313

Inhibitory Effects of Expanded GAA·TTC Triplet Repeats from Intron I of the Friedreich Ataxia Gene on Transcription and Replicationin Vivo

Ohshima, K., Montermini, L., Wells, R. D., & Pandolfo, M. (1998) · Journal of Biological Chemistry

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 302

Novel genetic loci associated with hippocampal volume

Hibar, D. P., Adams, H. H. H., Jahanshad, N., Chauhan, G., Stein, J. L., Hofer, E., Renteria, M. E., Bis, J. C., Arias-Vasquez, A., Ikram, M. K., et al. (2017) · Nature Communications

Genetic Associations and EpidemiologyMemory and Neural Mechanisms

Cited by 299

Frataxin knockin mouse

Miranda, C. J., Santos, M. M., Ohshima, K., Smith, J., Li, L., Bunting, M., Cossée, M., Koenig, M., Sequeiros, J., Kaplan, J., et al. (2002) · FEBS Letters

Genetic Neurodegenerative DiseasesNeurological diseases and metabolism

Cited by 172

Proprotein convertase subtilisin/kexin type 9 (PCSK9) gene is a risk factor of large-vessel atherosclerosis stroke

Abboud, S., Karhunen, P. J., Lütjohann, D., Goebeler, S., Luoto, T., Friedrichs, S., Lehtimaki, T., Pandolfo, M., & Laaksonen, R. (2007) · PLoS ONE

Lipoproteins and Cardiovascular HealthCerebrovascular and Carotid Artery Diseases

Cited by 77

Pharmacological treatments for Friedreich ataxia

Kearney, M., Orrell, R. W., Fahey, M., Brassington, R., & Pandolfo, M. (2016) · Cochrane Database of Systematic Reviews

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 74

Frataxin overexpressing mice

Miranda, C. J., Santos, M. M., Ohshima, K., Tessaro, M., Sequeiros, J., & Pandolfo, M. (2004) · FEBS Letters

Genetic Neurodegenerative DiseasesIron Metabolism and Disorders

Cited by 30