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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Neurologic Manifestations

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Disease relevance of Neurologic Manifestations


Psychiatry related information on Neurologic Manifestations


High impact information on Neurologic Manifestations


Chemical compound and disease context of Neurologic Manifestations


Biological context of Neurologic Manifestations


Anatomical context of Neurologic Manifestations


Gene context of Neurologic Manifestations

  • CONCLUSIONS: These preliminary findings suggest that possession of an APOE epsilon4 allele may be associated with increased severity of chronic neurologic deficits in high-exposure boxers [32].
  • Because of the severe cartilage overgrowth observed in some patients with CINCA syndrome and the implications of polymorphonuclear cell infiltration in the cutaneous and neurological manifestations of this syndrome, the tissue-specific expression of CIAS1 was evaluated [33].
  • In two unrelated patients suffering from severe type I hyperprolinemia with neurological manifestations, we identified a homozygous L441P PRODH mutation, associated with a heterozygous R453C substitution in one patient [34].
  • HIP1(-/-) mice developed into adulthood, did not develop overt neurologic symptoms in the first year of life, and had normal peripheral blood counts [35].
  • Subjecting the Gcdh-/- mice to a metabolic stress, which often precipitates an encephalopathic crisis and the development of dystonia in GA-I patients, failed to have any neurologic effect on the mice [36].

Analytical, diagnostic and therapeutic context of Neurologic Manifestations


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  3. Atm-deficient mice: a paradigm of ataxia telangiectasia. Barlow, C., Hirotsune, S., Paylor, R., Liyanage, M., Eckhaus, M., Collins, F., Shiloh, Y., Crawley, J.N., Ried, T., Tagle, D., Wynshaw-Boris, A. Cell (1996) [Pubmed]
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  18. Chloroquine treatment of severe malaria in children. Pharmacokinetics, toxicity, and new dosage recommendations. White, N.J., Miller, K.D., Churchill, F.C., Berry, C., Brown, J., Williams, S.B., Greenwood, B.M. N. Engl. J. Med. (1988) [Pubmed]
  19. The neurology of vitamin B12 deficiency. Metabolic mechanisms. Reynolds, E.H. Lancet (1976) [Pubmed]
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  22. Targeted expression of baculovirus p35 caspase inhibitor in oligodendrocytes protects mice against autoimmune-mediated demyelination. Hisahara, S., Araki, T., Sugiyama, F., Yagami, K., Suzuki, M., Abe, K., Yamamura, K., Miyazaki, J., Momoi, T., Saruta, T., Bernard, C.C., Okano, H., Miura, M. EMBO J. (2000) [Pubmed]
  23. Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7. Oh, A.K., Jacobson, K.M., Jen, J.C., Baloh, R.W. Ann. Neurol. (2001) [Pubmed]
  24. Uncoupling protein 2 promoter polymorphism -866G/A affects peripheral nerve dysfunction in Japanese type 2 diabetic patients. Yamasaki, H., Sasaki, H., Ogawa, K., Shono, T., Tamura, S., Doi, A., Sasahara, M., Kawashima, H., Nakao, T., Furuta, H., Nishi, M., Nanjo, K. Diabetes Care (2006) [Pubmed]
  25. Genetic and infectious prion diseases. Prusiner, S.B. Arch. Neurol. (1993) [Pubmed]
  26. Bilirubin induces a calcium-dependent inhibition of multifunctional Ca2+/calmodulin-dependent kinase II activity in vitro. Churn, S.B., DeLorenzo, R.J., Shapiro, S.M. Pediatr. Res. (1995) [Pubmed]
  27. Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy. Ho, J.K., Moser, H., Kishimoto, Y., Hamilton, J.A. J. Clin. Invest. (1995) [Pubmed]
  28. Association between conformational mutations in neuroserpin and onset and severity of dementia. Davis, R.L., Shrimpton, A.E., Carrell, R.W., Lomas, D.A., Gerhard, L., Baumann, B., Lawrence, D.A., Yepes, M., Kim, T.S., Ghetti, B., Piccardo, P., Takao, M., Lacbawan, F., Muenke, M., Sifers, R.N., Bradshaw, C.B., Kent, P.F., Collins, G.H., Larocca, D., Holohan, P.D. Lancet (2002) [Pubmed]
  29. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Liquori, C.L., Berg, M.J., Siegel, A.M., Huang, E., Zawistowski, J.S., Stoffer, T., Verlaan, D., Balogun, F., Hughes, L., Leedom, T.P., Plummer, N.W., Cannella, M., Maglione, V., Squitieri, F., Johnson, E.W., Rouleau, G.A., Ptacek, L., Marchuk, D.A. Am. J. Hum. Genet. (2003) [Pubmed]
  30. CNS involvement in mantle-cell lymphoma. Montserrat, E., Bosch, F., López-Guillermo, A., Graus, F., Terol, M.J., Campo, E., Rozman, C. J. Clin. Oncol. (1996) [Pubmed]
  31. Magnetic resonance imaging in the evaluation of patients with rheumatoid arthritis and subluxations of the cervical spine. Breedveld, F.C., Algra, P.R., Vielvoye, C.J., Cats, A. Arthritis Rheum. (1987) [Pubmed]
  32. Apolipoprotein E epsilon4 associated with chronic traumatic brain injury in boxing. Jordan, B.D., Relkin, N.R., Ravdin, L.D., Jacobs, A.R., Bennett, A., Gandy, S. JAMA (1997) [Pubmed]
  33. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Feldmann, J., Prieur, A.M., Quartier, P., Berquin, P., Certain, S., Cortis, E., Teillac-Hamel, D., Fischer, A., de Saint Basile, G. Am. J. Hum. Genet. (2002) [Pubmed]
  34. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Jacquet, H., Raux, G., Thibaut, F., Hecketsweiler, B., Houy, E., Demilly, C., Haouzir, S., Allio, G., Fouldrin, G., Drouin, V., Bou, J., Petit, M., Campion, D., Frébourg, T. Hum. Mol. Genet. (2002) [Pubmed]
  35. Huntingtin interacting protein 1 Is a clathrin coat binding protein required for differentiation of late spermatogenic progenitors. Rao, D.S., Chang, J.C., Kumar, P.D., Mizukami, I., Smithson, G.M., Bradley, S.V., Parlow, A.F., Ross, T.S. Mol. Cell. Biol. (2001) [Pubmed]
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