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1993
2025

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1993 1
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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.
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.
This spectrum includes X-linked hydrocephalus, MASA syndrome, X-linked complicated spastic paraplegia type 1 and X-linked agenesis of the corpus callosum. ...
This spectrum includes X-linked hydrocephalus, MASA syndrome, X-linked complicated spastic paraplegia type 1 and X-linked agen …
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. The patients are characterized by hydrocephalus, agenesis or hypoplasia of corpus callosum …
L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis …
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
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 …
[The MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?].
Stoll C, Alembik Y, Pfindel M, Chauvin A, Hanauer A. Stoll C, et al. Arch Fr Pediatr. 1993 Oct;50(8):665-9. Arch Fr Pediatr. 1993. PMID: 7516145 Review. French.
BACKGROUND: MASA syndrome is the acronym for Mental retardation, Aphasia, Shuffling gait and Adducted thumbs. ...CONCLUSION: DNA studies suggest that the MASA syndrome is heterogeneous....
BACKGROUND: MASA syndrome is the acronym for Mental retardation, Aphasia, Shuffling gait and Adducted thumbs. ...CONCLUSION: D …
11 results