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1 y contribute to the cell-sparse pathology of lissencephaly.
2 ed with a human cortical malformation termed lissencephaly.
3 ell migration diseases including Cobblestone lissencephaly.
4 eterotopia, subcortical band heterotopia and lissencephaly.
5 ene cause the smooth brain disease classical lissencephaly.
6 ion defects resembling cobblestone (type II) lissencephaly.
7 causing the severe human brain malformation lissencephaly.
8 raphically distinguishable recessive form of lissencephaly.
9 entical neuronal migration defects, known as lissencephaly.
10 pling may contribute to migration defects in lissencephaly.
11 nized genetic anomaly associated with type I lissencephaly.
12 new insights into the pathogenesis of type I lissencephaly.
13 in the neuronal migration disorder X-linked lissencephaly.
14 vere developmental brain abnormality, type I lissencephaly.
15 d to a very similar phenotype, termed type 1 lissencephaly.
16 neuronal basis for seizures associated with lissencephaly.
17 s a malformation of the human brain known as lissencephaly.
18 spared him from the more severe phenotype of lissencephaly.
19 Lis1, a mouse model of human 17p13.3-linked lissencephaly.
20 le epilepsy, and bilateral temporo-occipital lissencephaly.
21 eterotopia) and affected males show X-linked lissencephaly.
22 mutations in the same exons have had diffuse lissencephaly.
23 migration defects observed in Miller-Dieker lissencephaly.
24 an neuronal migration disorder Miller-Dieker lissencephaly.
25 patients with the neurodevelopmental disease lissencephaly.
26 psy or cognitive impairments associated with lissencephaly.
27 ll the basis of TMTC3-associated Cobblestone lissencephaly.
28 fficiency in the neurodevelopmental disorder lissencephaly.
29 PTEN-related macrocephaly and Miller-Dieker lissencephaly.
30 lopment and is associated with human type II lissencephaly.
31 doublecortin, is the main cause of classical lissencephaly.
32 structural homology with LIS1, which causes lissencephaly.
33 s, DCX is a major genetic locus for X-linked lissencephaly.
34 e molecular and cellular bases of DCX-linked lissencephaly.
35 otypes that frequently accompany cobblestone lissencephaly.
36 the human neurodevelopmental disorder Type I Lissencephaly.
37 ration and a smooth brain phenotype known as lissencephaly.
38 iventricular and subcortical heterotopia and lissencephaly.
39 cerebral cortex malformation in cobblestone lissencephaly.
40 was demonstrated in a mouse model of type I lissencephaly.
41 neocortex and hippocampus known as classical lissencephaly.
42 involved in the pathogenesis of cobblestone lissencephalies.
43 rms of human brain malformation than classic lissencephalies.
44 as to the broad clinical spectrum of type II lissencephalies.
48 verlapping localization patterns of ASUN and lissencephaly 1 (LIS1), a dynein adaptor, suggest that A
49 lear distribution factor E-homolog 1 (NDE1), Lissencephaly 1 (LIS1), and NDE-like 1 (NDEL1) together
50 2, and a third subunit, the dynein regulator lissencephaly 1 (LIS1), mediates the structure and funct
54 tor acetylhydrolase, isoform Ib, PAFAH1B1 or lissencephaly 1 protein (LIS1) and nuclear distribution
57 and in Lis1, the Drosophila homolog of human lissencephaly 1, reinforcing the role of the dynein comp
58 The main causative gene of this disease - lissencephaly-1 (LIS1) - has been a focus of intense scr
60 of dynactin, end-binding protein-1 (EB1) and Lissencephaly-1 (LIS1) in the interaction of end trackin
63 and the role of critical regulators such as lissencephaly-1 (LIS1) protein (LIS1) remain unclear.
68 on of muskelin with RanBP9, and its atypical lissencephaly-1 homology motif, which has a nuclear loca
69 ase IB subunit alpha (Pafah1b1), also called Lissencephaly-1, can cause classical lissencephaly, a se
73 nalysis of infant human neocortex exhibiting lissencephaly, a developmental malformation thought to b
77 e of two major genetic loci underlying human lissencephaly, a neurodevelopmental disorder with defect
80 utations in the human LIS1 gene cause type I lissencephaly, a severe brain developmental disease invo
82 as LIS1) in humans is associated with type I lissencephaly, a severe developmental brain disorder tho
83 ng mutations of the Lis1 gene display type I lissencephaly, a severe form of cortical dysplasia hypot
84 called Lissencephaly-1, can cause classical lissencephaly, a severe malformation of cortical develop
86 pically includes severe brain malformations (lissencephaly, agenesis of the corpus callosum, and midb
87 , which comprises the less severe end of the lissencephaly (agyria-pachygyria-band) spectrum of malfo
88 type of TUBA1A and TUBG1 tubulinopathies are lissencephalies and microlissencephalies, whereas TUBB2B
93 cloned following the study of children with lissencephaly and cytogenetic abnormalities involving ch
94 ulated the thickened cortex typical of human lissencephaly and demonstrated dysregulation of protein
96 ephaly 1 protein, LIS1, is mutated in type-1 lissencephaly and is a key regulator of cytoplasmic dyne
97 results in the severe developmental disorder lissencephaly and is associated with neurological diseas
100 a-tubulin genes have been identified in both lissencephaly and polymicrogyria, usually associated wit
102 r gradient similar to PAFAH1B1(LIS1)-related lissencephaly and severe hypoplasia or absence of the co
103 ngenital muscular dystrophy with cobblestone lissencephaly and structural eye defects to a mild form
107 restriction, ventriculomegaly, microcephaly, lissencephaly, and extensive degenerative changes of the
109 nhibitory input may underlie the epilepsy in lissencephaly, and suggest potential therapeutic strateg
112 These data suggest that SBH and X-linked lissencephaly are caused by mutation of a single gene, X
115 orders in humans, including microcephaly and lissencephaly, are often associated with impaired gyrifi
116 lso occurred, similar to type II cobblestone lissencephaly as seen in congenital muscular dystrophy.
117 issencephaly, similar to PAFAH1B1-associated lissencephaly, as well as co-occurrence of subcortical h
119 experimental paradigm in understanding human lissencephaly, but clear limitations exist in these stud
120 llelic variants have moderate frontotemporal lissencephaly, but with normal cerebellar structure and
123 Much of our knowledge about DCX-associated lissencephaly comes from post-mortem analyses of patient
126 MDS and ILS deletion patients, localizes the lissencephaly critical region within the LIS1 gene.
127 d epilepsy, including double cortex/X-linked lissencephaly (DC/XLIS), have been localized to Xq21.3-q
128 ince discovery of the first genetic cause of lissencephaly, deletions of chromosome 17p13.3 in Miller
130 interactions more accurately, and map type-1 lissencephaly disease mutations, as well as mutations in
131 the product of the gene mutated in X-linked lissencephaly/double cortex syndrome, a severe developme
132 otopia, polymicrogyria, band heterotopia and lissencephaly, dysembryoplastic neuroepithelial tumours,
133 changes suggests shared function with other lissencephaly-encoded cytoskeletal proteins such as alph
134 distinct phenotypes including frontotemporal lissencephaly, epilepsy, autism and probably schizophren
137 TMTC3 mutations associated with Cobblestone lissencephaly found that three of the variants exhibit r
138 to dissociate the epileptic consequences of lissencephaly from the more phenotypically overt cortica
142 atients with missense mutations had a milder lissencephaly grade compared with those with mutations l
144 euronal disorganization resulting from Lis1 (lissencephaly) haploinsufficiency contributes to cogniti
145 rved motif within the amino-terminal domain, lissencephaly homology motif (LisH) and C-terminal to Li
146 topias resembling those found in cobblestone lissencephalies in which neuroepithelial cells migrate i
147 expression explains the frontal-predominant lissencephaly in an individual with a homozygous stop-ga
151 s on neocortical gyrification and shows that lissencephaly in mice is actively maintained via redunda
154 rom two males with mutated DCX and classical lissencephaly including smooth brain and abnormal cortic
155 five genes that cause or contribute to human lissencephaly, including LIS1, 14-3-3 epsilon, DCX, RELN
170 pic similarity with existing mouse models of lissencephaly led us to screen a cohort of patients with
171 n in meningeal fibroblasts and a cobblestone lissencephaly-like phenotype in the developing cortex.
172 lectively facilitates phosphorylation of the lissencephaly-linked doublecortin (DCX) by cdk5/p35, but
173 ively facilitates the phosphorylation of the lissencephaly-linked protein doublecortin (DCX) by cdk5/
175 ortical band heterotopia (SBH) and classical lissencephaly (LIS) result from deficient neuronal migra
178 s PAF and is composed of three subunits [the lissencephaly (LIS1) protein and alpha1 and alpha2 subun
181 romes: (i) microlissencephaly (n = 12); (ii) lissencephaly (n = 19); (iii) central pachygyria and pol
182 a relationship between the specific type of lissencephaly observed and deficiency of specific modes
184 ene cause gross neocortical disorganization (lissencephaly or "smooth brain") in hemizygous males, wh
185 s resembling defects in type 2 (cobblestone) lissencephaly or congenital muscular dystrophies but app
186 or doublecortin can lead to either classical lissencephaly or double cortex, but because LIS1 is auto
189 racteristic cerebellar dysplasia but without lissencephaly, pachygyria and polymicrogyria typically a
190 ons of cortical development (MCD), typically lissencephaly, pachygyria and polymicrogyria; however, s
192 ual disability, short stature, microcephaly, lissencephaly, periventricular heterotopia, polymicrogyr
196 Human cortical malformations, including lissencephaly, polymicrogyria and other diseases of neur
197 ter segment proteins were reduced, but LIS1 (lissencephaly protein 1), a well-characterized dynein co
200 that Pac1, the yeast homologue of the human lissencephaly protein LIS1, plays a key role in this pro
205 idence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in on
207 human neuronal migration disorders isolated lissencephaly sequence (ILS) and the more severe Miller-
208 ith Miller-Dieker syndrome (MDS) or isolated lissencephaly sequence (ILS) have a hemizygous deletion
209 Approximately 65% of patients with isolated lissencephaly sequence (ILS) show intragenic mutations o
210 owever, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (
214 encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including
216 phenotypes and hypothesize that the greater lissencephaly severity seen in Miller-Dieker syndrome ma
217 demonstrate extensive posterior predominant lissencephaly, similar to PAFAH1B1-associated lissenceph
218 rons to arrest in the cortex lead to type II lissencephaly (smooth brain with clusters of neurons alo
219 quired for neuroblast migration cause type I lissencephaly (smooth brain) and subcortical band hetero
220 nsufficiency of human LIS1 results in type I lissencephaly (smooth brain) with severely reduced surfa
221 LIS1, the product of a causal gene for human lissencephaly (smooth brain), has also been implicated i
222 Mutations of the LIS1 gene result in human lissencephaly (smooth brain), which features misplaced c
229 account for nearly a quarter of all cases of lissencephaly-spectrum brain malformations(2)(,)(3) that
230 p.Cys539Arg and p.Arg3207Cys associated with lissencephaly suggesting a dominant-negative effect.
232 -epicanthus inversus syndrome, Miller-Dieker lissencephaly syndrome, and Williams-Beuren syndrome--in
234 ule-binding domain resulted in a more severe lissencephaly than later truncation/deletion mutations (
237 port on 12 individuals with a unique form of lissencephaly; these individuals come from eight unrelat
239 e products of genes mutated in Miller-Dieker lissencephaly, Treacher Collins, oral-facial-digital typ
241 n RELN have been associated with a recessive lissencephaly variant with cerebellar hypoplasia, which
243 established Drosophila model for cobblestone lissencephaly was used to understand how Dg is regulated
244 tin (Dcx) is the causative gene for X-linked lissencephaly, which encodes a microtubule-binding prote
245 e associated with the anatomical abnormality lissencephaly, which is believed to reflect failure of n
246 h humans and mice that resembles cobblestone lissencephaly, which is characterized by overmigration o
247 LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyratio
248 d from individuals with genetically distinct lissencephalies with a recessive mutation in p53-induced
249 a highly recognizable combination of classic lissencephaly with a posterior more severe than anterior
250 est that truncating mutations cause X-linked lissencephaly with abnormal genitalia, and insertion/mis
251 ive spectrum of tubulinopathies and X-linked lissencephaly with abnormal genitalia, but neurodevelopm
252 X mutations have also been found in X-linked lissencephaly with abnormal genitalia, which typically i
253 gene, only 11 individuals with RELN-related lissencephaly with cerebellar hypoplasia from six famili
256 me, ventriculomegaly, cerebellar hypoplasia, lissencephaly with hydrocephalus, and fetal akinesia def
257 y have severe brain abnormalities resembling lissencephaly, with abnormal layering of neurons in the
259 sociated protein that is mutated in X-linked lissencephaly (X-LIS), a neuronal migration disorder ass