CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

Molecular logic of neocortical projection neuron specification, development and diversity

Greig, L. C., Woodworth, M. B., Galazo, M. J., Padmanabhan, H., & Macklis, J. D. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3586 · Cited by 863

Mitochondrial optic neuropathies—Disease mechanisms and therapeutic strategies

Yu-Wai-Man, P., Griffiths, P. G., & Chinnery, P. F. (2011) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.11.002 · Cited by 633

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

Salinas, S., Proukakis, C., Crosby, A., & Warner, T. T. (2008) · The Lancet Neurology · doi:10.1016/s1474-4422(08)70258-8 · Cited by 474

X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

Saugier-Veber, P., Munnich, A., Bonneau, D., Rozet, J.-M., Le Merrer, M., Gil, R., & Boespflug-Tanguy, O. (1994) · Nature Genetics · doi:10.1038/ng0394-257 · Cited by 359

The autosomal recessive cerebellar ataxias.

Anheim, M., Tranchant, C., & Koenig, M. (2012) · New England Journal of Medicine · doi:10.1056/nejmra1006610 · Cited by 356

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Schüle, R., Wiethoff, S., Martus, P., Karle, K. N., Otto, S., Klebe, S., Klimpe, S., Gallenmüller, C., Kurzwelly, D., Henkel, D., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24611 · Cited by 315

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

Tesson, C., Nawara, M., Salih, M. A. M., Rossignol, R., Zaki, M. S., Al Balwi, M., Schule, R., Mignot, C., Obre, E., Bouhouche, A., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.11.001 · Cited by 203

Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

Valdmanis, P. N., Meijer, I. A., Reynolds, A., Lei, A., MacLeod, P., Schlesinger, D., Zatz, M., Reid, E., Dion, P. A., Drapeau, P., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/510782 · Cited by 182

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 · doi:10.1016/s0014-5793(02)02251-2 · Cited by 172

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

D'Amore, A., Tessa, A., Casali, C., Dotti, M. T., Filla, A., Silvestri, G., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., et al. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2018.00981 · Cited by 90

Triglycerides are an important fuel reserve for synapse function in the brain

Kumar, M., Wu, Y., Knapp, J., Pontius, C. L., Park, D., Witte, R. E., McAllister, R., Gupta, K., Rajagopalan, K. N., De Camilli, P., et al. (2025) · Nature Metabolism · doi:10.1038/s42255-025-01321-x · Cited by 89

Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia

Grant, L., Sun, J., Xu, H., Subramony, S. H., Chaires, J. B., & Hebert, M. D. (2006) · FEBS Letters · doi:10.1016/j.febslet.2006.09.006 · Cited by 36