| 1 |
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
38
4
|
Bahi-Buisson N...SBH-LIS European Consortium
|
23365099
|
2013 |
| 2 |
Lissencephaly: Expanded imaging and clinical classification.
4
|
Di Donato N...Dobyns WB
|
28440899
|
2017 |
| 3 |
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.
4
|
Gonzalez-Moron D...Kauffman MA
|
28953922
|
2017 |
| 4 |
RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.
4
|
Valence S...Burglen L
|
27000652
|
2016 |
| 5 |
Stimulation of the bilateral anterior nuclei of the thalamus in the treatment of refractory epilepsy: two cases of subcortical band heterotopia.
4
|
Franco A...Bentes C
|
27965181
|
2016 |
| 6 |
Different Doublecortin (DCX) Patient Alleles Show Distinct Phenotypes in Cultured Neurons: EVIDENCE FOR DIVERGENT LOSS-OF-FUNCTION AND "OFF-PATHWAY" CELLULAR MECHANISMS.
4
|
Yap CC...Winckler B
|
27799303
|
2016 |
| 7 |
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
4
|
Di Donato N...Jinks RN
|
27773430
|
2016 |
| 8 |
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
4
|
Di Donato N...Dobyns WB
|
27240540
|
2016 |
| 9 |
A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.
4
|
Tsai MH...Tsai JW
|
27292316
|
2016 |
| 10 |
Disorders of Microtubule Function in Neurons: Imaging Correlates.
4
|
Mutch CA...Barkovich AJ
|
26564436
|
2016 |
| 11 |
A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human.
4
|
Bourgeois F...Legay C
|
25817838
|
2015 |
| 12 |
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
4
|
Magen D...Mandel H
|
25560765
|
2015 |
| 13 |
Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism.
4
|
Moreira I...Chaves J
|
25645638
|
2015 |
| 14 |
Somatic mutations in cerebral cortical malformations.
4
|
Jamuar SS...Walsh CA
|
25140959
|
2014 |
| 15 |
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
4
|
Bahi-Buisson N...Chelly J
|
24860126
|
2014 |
| 16 |
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
4
|
Poirier K...Chelly J
|
23603762
|
2013 |
| 17 |
Mosaic DCX deletion causes subcortical band heterotopia in males.
4
|
Quelin C...Bahi-Buisson N
|
22833188
|
2012 |
| 18 |
Template-free 13-protofilament microtubule-MAP assembly visualized at 8 A resolution.
4
|
Fourniol FJ...Moores CA
|
20974813
|
2010 |
| 19 |
Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies.
4
|
Wynshaw-Boris A...Hirotsune S
|
20688183
|
2010 |
| 20 |
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.
4
|
Marcorelles P...Friocourt G
|
20461390
|
2010 |
| 21 |
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
4
|
Bruno DL...Schoumans J
|
20452996
|
2010 |
| 22 |
The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
4
|
Dobyns WB
|
20331703
|
2010 |
| 23 |
Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.
4
|
Hoischen A...Haffner D
|
19444485
|
2009 |
| 24 |
Doublecortin associates with microtubules preferentially in regions of the axon displaying actin-rich protrusive structures.
4
|
Tint I...Black MM
|
19726658
|
2009 |
| 25 |
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
4
|
Haverfield EV...Das S
|
19050731
|
2009 |
| 26 |
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
4
|
Leger PL...Bahi-Buisson N
|
18685874
|
2008 |
| 27 |
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
4
|
Uyanik G...Winkler J
|
17664403
|
2007 |
| 28 |
Distinct roles of doublecortin modulating the microtubule cytoskeleton.
4
|
Moores CA...Francis F
|
16957770
|
2006 |
| 29 |
The evolving doublecortin (DCX) superfamily.
4
|
Reiner O...Bergmann S
|
16869982
|
2006 |
| 30 |
Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development.
4
|
Ghai S...Blaser S
|
16549605
|
2006 |
| 31 |
Genotypically defined lissencephalies show distinct pathologies.
4
|
Forman MS...Golden JA
|
16215456
|
2005 |
| 32 |
Neuronal migration disorders, genetics, and epileptogenesis.
4
|
Guerrini R...Filippi T
|
15921228
|
2005 |
| 33 |
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered.
4
|
Leventer RJ
|
15921231
|
2005 |
| 34 |
Mitotic impairment by doublecortin is diminished by doublecortin mutations found in patients.
4
|
Couillard-Despres S...Aigner L
|
15045646
|
2004 |
| 35 |
Different clinical and morphological phenotypes in monozygotic twins with identical DCX mutation.
4
|
Martin P...Winkler J
|
14999500
|
2004 |
| 36 |
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
4
|
Guerrini R...Das S
|
12838518
|
2003 |
| 37 |
ARX mutations in X-linked lissencephaly with abnormal genitalia.
4
|
Uyanik G...Winkler J
|
12874405
|
2003 |
| 38 |
Doublecortin functions at the extremities of growing neuronal processes.
4
|
Friocourt G...Francis F
|
12764037
|
2003 |
| 39 |
Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.
4
|
Aigner L...Winkler J
|
12552055
|
2003 |
| 40 |
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
4
|
D'Agostino MD...Andermann E
|
12390976
|
2002 |
| 41 |
Surgical resection for intractable epilepsy in "double cortex" syndrome yields inadequate results.
4
|
Bernasconi A...Andermann F
|
11580758
|
2001 |
| 42 |
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
4
|
Demelas L...Das S
|
11468322
|
2001 |
| 43 |
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
4
|
Matsumoto N...Dobyns WB
|
11175293
|
2001 |
| 44 |
Patient mutations in doublecortin define a repeated tubulin-binding domain.
4
|
Taylor KR...Gleeson JG
|
10946000
|
2000 |
| 45 |
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
4
|
Gleeson JG...Walsh CA
|
10915612
|
2000 |
| 46 |
Doublecortin mutations cluster in evolutionarily conserved functional domains.
4
|
Sapir T...Reiner O
|
10749977
|
2000 |
| 47 |
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
4
|
Gleeson JG...Walsh CA
|
9989615
|
1999 |
| 48 |
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
4
|
Pilz DT...Ross ME
|
9817918
|
1998 |
| 49 |
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.
4
|
des Portes V...Chelly J
|
9489699
|
1998 |
| 50 |
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
4
|
Gleeson JG...Walsh CA
|
9489700
|
1998 |
