MeSH Review:
Heredodegenerative Disorders, Nervous System
- Spinal muscular atrophy: present state. Schmalbruch, H., Haase, G. Brain Pathol. (2001)
- Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy. Chang, P.L., Rosa, N.E., Davidson, R.G. Hum. Genet. (1982)
- Rocuronium for muscle relaxation in two children with Friedreich's ataxia. Schmitt, H.J., Wick, S., Münster, T. British journal of anaesthesia. (2004)
- Presymptomatic tests in Huntington's disease and dominant ataxias. Cannella, M., Simonelli, M., D'Alessio, C., Pierelli, F., Ruggieri, S., Squitieri, F. Neurol. Sci. (2001)
- Plastic and behavioral abnormalities in experimental Huntington's disease: a crucial role for cholinergic interneurons. Picconi, B., Passino, E., Sgobio, C., Bonsi, P., Barone, I., Ghiglieri, V., Pisani, A., Bernardi, G., Ammassari-Teule, M., Calabresi, P. Neurobiol. Dis. (2006)
- The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Brown, A., Bernier, G., Mathieu, M., Rossant, J., Kothary, R. Nat. Genet. (1995)
- Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients. Sato, T., Oyake, M., Nakamura, K., Nakao, K., Fukusima, Y., Onodera, O., Igarashi, S., Takano, H., Kikugawa, K., Ishida, Y., Shimohata, T., Koide, R., Ikeuchi, T., Tanaka, H., Futamura, N., Matsumura, R., Takayanagi, T., Tanaka, F., Sobue, G., Komure, O., Takahashi, M., Sano, A., Ichikawa, Y., Goto, J., Kanazawa, I. Hum. Mol. Genet. (1999)
- Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase. Branda, S.S., Cavadini, P., Adamec, J., Kalousek, F., Taroni, F., Isaya, G. J. Biol. Chem. (1999)
- Refined repetitive sequence searches utilizing a fast hash function and cross species information retrievals. Reneker, J., Shyu, C.R. BMC Bioinformatics (2005)