« Previous
Next »
Pediatric Neurology
Volume 30, Issue 1
, Pages 7-15
, January 2004
Presence of filamin in the astrocytic inclusions of Aicardi syndrome
References
-
.
A new syndrome (Spasms in flexion, callosal agenesis, ocular abnormalities).
Electroencephalogr Clin Neurophysiol. 1965;19:609–610
- . Le syndrome spasms en flexion, agénésie calleuse, anomalies chorio-rétiniennes. Arch Fr Pediatr. 1969;26:1103–1120
- Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. Am J Med Genet. 1989;32:461–467
- Aicardi syndrome in two sisters. J Pediatr. 1989;115:282–283
- The Aicardi syndrome in a 47, XXY male. Aust Paediatr J. 1979;15:278–280
- Combined Goltz and Aicardi syndromes in a terminal Xp deletion (Are they a contiguous gene syndrome?). Am J Med Genet. 1992;43:839–843
- . Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). Genomics. 1996;34:166–172
- . Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. Genomics. 1997;46:268–277
- Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics. 1998;51:251–261
- Characterization of a novel chromo domain gene in Xp22.3 with homology to Drosophila msl-3. Genomics. 1999;59:77–84
- . X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance. Clin Genet. 1985;28:238–242
- Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome. Hum Genet. 1997;100:459–464
- Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation. Hum Genet. 1982;61:364–368
-
Van den VeyverIB. Microphthalmia with linear skin defects (MLS), Aicardi and Goltz syndrome: Are they related X-linked dominant male-lethal disorders? Cytogenet Genome Res 2002;99:289–96
- . MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea) (An X- linked phenotype distinct from Goltz syndrome). Am J Med Genet. 1993;47:710–713
- The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS) (Cloning and characterization of the critical regions). Hum Mol Genet. 1993;2:947–952
- Microphthalmia with linear skin defects (MLS) syndrome (Clinical, cytogenetic, and molecular characterization). Am J Med Genet. 1994;49:229–234
- Electron microscopic study on a case of idiocy (Astrocytes and mental deficiency). Acta Neuropathol. 1970;16:25–34
- Novel eosinophilic inclusion in astrocytes. Acta Neuropathol. 1992;83:659–663
- Immunohistochemical studies on the new type of astrocytic inclusions identified in a patient with brain malformation. Acta Neuropathol. 1992;84:449–452
- . Peculiar eosinophilic inclusions within astrocytes in a patient with malformed brain. Brain Dev. 1994;16:309–314
- . Aicardi syndrome (A morphologic description with particular reference to intracytoplasmic inclusions in cortical astrocytes). Pediatr Pathol Lab Med. 1996;16:285–291
- Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet. 2001;27:117–120
- Mutations in filamin A prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998;21:1315–1325
- Mutations in the X-linked filamin A gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet. 2001;10:1775–1783
- Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2. Am J Med Genet. 2000;94:79–84
- Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23:185–188
- Inclusion bodies in cerebral cortical astrocytes (A new change of astrocytes). Acta Neuropathol. 1992;84:113–116
- Unique astrocytic inclusion in a 2-month-old baby showing Leigh-like brain lesions with lactic acidosis. Brain Dev. 2000;22:234–238
-
.
Eosinophilic intracytoplasmic inclusions within cortical astrocytes in an epileptic focus.
J Neuropath Exp Neurol. 2001;60:552(A195)
- A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell. 1998;92:51–61
- Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 1998;92:63–72
- The exon-intron organization of the human X-linked gene (FLN1) encoding actin-binding protein 280. Genomics. 1994;21:71–76
- . Structural and functional aspects of filamins. Biochim Biophys Acta. 2001;1538:99–117
- Aicardi syndrome (Postmortem findings). Pediatr Neurol. 1989;5:259–261
- Periventricular nodular heterotopia in patients with filamin-1 gene mutations (Neuroimaging findings). Pediatr Radiol. 2000;30:748–755
-
Periventricular and subcortical nodular heterotopia (A study of 33 patients).
Brain. 1995;118:1273–1287
- . Neuronal migration disorders (From genetic diseases to developmental mechanisms). Trends Neurosci. 2000;23:352–359
- . Human brain malformations and their lessons for neuronal migration. Annu Rev Neurosci. 2001;24:1041–1070
PII: S0887-8994(03)00311-4
doi: 10.1016/S0887-8994(03)00311-4
© 2004 Elsevier Inc. All rights reserved.
« Previous
Next »
Pediatric Neurology
Volume 30, Issue 1
, Pages 7-15
, January 2004
