| 1 |
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
6
25
|
Sicca F...Guerrini R
|
14581661 |
2003 |
| 2 |
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
25
6
|
Leventer RJ...Dobyns WB
|
11502906 |
2001 |
| 3 |
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
25
6
|
Lo Nigro C...Ledbetter DH
|
9063735 |
1997 |
| 4 |
Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia.
6
|
Torres FR...Lopes-Cendes I
|
15007136 |
2004 |
| 5 |
LIS1 controls mitosis and mitotic spindle organization via the LIS1-NDEL1-dynein complex.
25
|
Moon HM...Wynshaw-Boris A
|
24030547 |
2014 |
| 6 |
Nudel/NudE and Lis1 promote dynein and dynactin interaction in the context of spindle morphogenesis.
25
|
Wang S...Zheng Y
|
24025714 |
2013 |
| 7 |
Lissencephaly-1 promotes the recruitment of dynein and dynactin to transported mRNAs.
25
|
Dix CI...Bullock SL
|
23918939 |
2013 |
| 8 |
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
25
|
Cushion TD...Pilz DT
|
23361065 |
2013 |
| 9 |
Lis1 acts as a "clutch" between the ATPase and microtubule-binding domains of the dynein motor.
25
|
Huang J...Reck-Peterson SL
|
22939623 |
2012 |
| 10 |
Lis1 is an initiation factor for dynein-driven organelle transport.
25
|
Egan MJ...Reck-Peterson SL
|
22711696 |
2012 |
| 11 |
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
25
|
Pagnamenta AT...Keays DA
|
22129557 |
2012 |
| 12 |
Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities.
25
|
de Wit MC...Mancini GM
|
21410694 |
2011 |
| 13 |
Functional dissection of LIS1 and NDEL1 towards understanding the molecular mechanisms of cytoplasmic dynein regulation.
25
|
Torisawa T...Toyoshima YY
|
21036906 |
2011 |
| 14 |
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
25
|
Kumar RA...Dobyns WB
|
20466733 |
2010 |
| 15 |
A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
25
|
Mineyko A...Boycott KM
|
19808989 |
2010 |
| 16 |
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
25
|
Saillour Y...Bahi-Buisson N
|
19667223 |
2009 |
| 17 |
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
25
|
Haverfield EV...Das S
|
19050731 |
2009 |
| 18 |
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.
25
|
Mei D...Guerrini R
|
18285425 |
2008 |
| 19 |
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
25
|
Poirier K...Chelly J
|
17584854 |
2007 |
| 20 |
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
25
|
Uyanik G...Winkler J
|
17664403 |
2007 |
| 21 |
Expression patterns of LIS1, dynein and their interaction partners dynactin, NudE, NudEL and NudC in human gliomas suggest roles in invasion and proliferation.
25
|
Suzuki SO...Vallee RB
|
17221205 |
2007 |
| 22 |
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia.
25
|
Mei D...Guerrini R
|
17283321 |
2007 |
| 23 |
Genotypically defined lissencephalies show distinct pathologies.
25
|
Forman MS...Golden JA
|
16215456 |
2005 |
| 24 |
LIS1 RNA interference blocks neural stem cell division, morphogenesis, and motility at multiple stages.
25
|
Tsai JW...Vallee RB
|
16144905 |
2005 |
| 25 |
Interneuron deficits in patients with the Miller-Dieker syndrome.
25
|
Pancoast M...Golden JA
|
15739099 |
2005 |
| 26 |
Genetic malformations of the cerebral cortex and epilepsy.
25
|
Guerrini R
|
15816977 |
2005 |
| 27 |
The structure of the N-terminal domain of the product of the lissencephaly gene Lis1 and its functional implications.
25
|
Kim MH...Derewenda ZS
|
15274919 |
2004 |
| 28 |
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
25
|
Kato M...Dobyns WB
|
14722918 |
2004 |
| 29 |
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.
25
|
Rossi M...Winter RM
|
14681753 |
2003 |
| 30 |
Interaction of reelin signaling and Lis1 in brain development.
25
|
Assadi AH...Clark GD
|
14578885 |
2003 |
| 31 |
Lissencephaly and the molecular basis of neuronal migration.
25
|
Kato M...Dobyns WB
|
12668601 |
2003 |
| 32 |
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
25
|
Cardoso C...Ledbetter DH
|
12621583 |
2003 |
| 33 |
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
25
|
D'Agostino MD...Andermann E
|
12390976 |
2002 |
| 34 |
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
25
|
Cardoso C...Ledbetter DH
|
11754098 |
2002 |
| 35 |
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.
25
|
Ross ME...Dobyns WB
|
11748497 |
2001 |
| 36 |
Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization.
25
|
Cahana A...Reiner O
|
11344260 |
2001 |
| 37 |
Nudf, a fungal homolog of the human LIS1 protein, functions as a dimer in vivo.
25
|
Ahn C...Morris NR
|
11134054 |
2001 |
| 38 |
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
25
|
Matsumoto N...Dobyns WB
|
11175293 |
2001 |
| 39 |
A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system.
25
|
Sasaki S...Hirotsune S
|
11163259 |
2000 |
| 40 |
NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein.
25
|
Niethammer M...Tsai LH
|
11163260 |
2000 |
| 41 |
LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome.
25
|
Feng Y...Walsh CA
|
11163258 |
2000 |
| 42 |
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
25
|
Cardoso C...Ledbetter DH
|
11115846 |
2000 |
| 43 |
A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function.
25
|
Faulkner NE...Vallee RB
|
11056532 |
2000 |
| 44 |
Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis1.
25
|
Smith DS...Tsai LH
|
11056530 |
2000 |
| 45 |
The LIS1-related NUDF protein of Aspergillus nidulans interacts with the coiled-coil domain of the NUDE/RO11 protein.
25
|
Efimov VP...Morris NR
|
10931877 |
2000 |
| 46 |
Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.
25
|
Sweeney KJ...Eichele G
|
10727864 |
2000 |
| 47 |
Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly.
25
|
Fleck MW...McBain CJ
|
10729324 |
2000 |
| 48 |
Analysis of lissencephaly-causing LIS1 mutations.
25
|
Sapir T...Reiner O
|
10583396 |
1999 |
| 49 |
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
25
|
Pilz DT...Ledbetter DH
|
10441340 |
1999 |
| 50 |
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
25
|
Dobyns WB...Barkovich AJ
|
10430413 |
1999 |
