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Page 1
X linked hydrocephalus and MASA syndrome.
Kenwrick S, Jouet M, Donnai D. Kenwrick S, et al. J Med Genet. 1996 Jan;33(1):59-65. doi: 10.1136/jmg.33.1.59. J Med Genet. 1996. PMID: 8825051 Free PMC article. Review.
X linked hydrocephalus and MASA syndrome are clinically related, neurological disorders with an X linked recessive mode of inheritance. ...This was confirmed by identification of mutations in patients with X linked hydrocephalus and MASA syndrome withi …
X linked hydrocephalus and MASA syndrome are clinically related, neurological disorders with an X linked recessive mode of inh …
Genetics of hereditary spastic paraplegias.
Schüle R, Schöls L. Schüle R, et al. Semin Neurol. 2011 Nov;31(5):484-93. doi: 10.1055/s-0031-1299787. Epub 2012 Jan 21. Semin Neurol. 2011. PMID: 22266886 Review.
Neural cell adhesion proteins and neurological diseases.
Uyemura K, Takeda Y, Asou H, Hayasaka K. Uyemura K, et al. J Biochem. 1994 Dec;116(6):1187-92. doi: 10.1093/oxfordjournals.jbchem.a124660. J Biochem. 1994. PMID: 7706205 Free article. Review.
Recently various L1 mutations have been reported in X-linked hydrocephalus, MASA syndrome with mental retardation and spastic paraplegia type 1. ...
Recently various L1 mutations have been reported in X-linked hydrocephalus, MASA syndrome with mental retardation and spastic …
L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
Fransen E, Van Camp G, Vits L, Willems PJ. Fransen E, et al. Hum Mol Genet. 1997;6(10):1625-32. doi: 10.1093/hmg/6.10.1625. Hum Mol Genet. 1997. PMID: 9300653 Review.
Mutations in L1 are responsible for a wide spectrum of neurologic abnormalities and mental retardation. This spectrum includes X-linked hydrocephalus, MASA syndrome, X-linked complicated spastic paraplegia type 1 and X-linked agenesis of the corpus callosum. ...
Mutations in L1 are responsible for a wide spectrum of neurologic abnormalities and mental retardation. This spectrum includes X-linked hydr …
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ. Fransen E, et al. Eur J Hum Genet. 1995;3(5):273-84. doi: 10.1159/000472311. Eur J Hum Genet. 1995. PMID: 8556302 Review.
We review here the evidence that several X-linked mental retardation syndromes including X-linked hydrocephalus (HSAS), MASA syndrome, X-linked complicated spastic paraparesis (SP1) and X-linked corpus callosum agenesis (ACC) are all due to mutations in the L1 gene. …
We review here the evidence that several X-linked mental retardation syndromes including X-linked hydrocephalus (HSAS), MASA syndr …
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S, Gärtner J. Weller S, et al. Hum Mutat. 2001;18(1):1-12. doi: 10.1002/humu.1144. Hum Mutat. 2001. PMID: 11438988 Review.
L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. ...
L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis …
Cell-adhesion proteins of the immunoglobulin superfamily in the nervous system.
Uyemura K, Asou H, Yazaki T, Takeda Y. Uyemura K, et al. Essays Biochem. 1996;31:37-48. Essays Biochem. 1996. PMID: 9078456 Review.
Mutations of cell-adhesion proteins result in neurological disease; for example, mutations of PO in hereditary neuropathy and mutations of L1 in hereditary hydrocephalus, MASA syndrome and spastic paraplegia type 1. Perspectives of the studies of neural cell-adhesio …
Mutations of cell-adhesion proteins result in neurological disease; for example, mutations of PO in hereditary neuropathy and mutations of L …
11 results