| 1 |
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
61
24
|
Bahi-Buisson N...SBH-LIS European Consortium
|
23365099 |
2013 |
| 2 |
Lissencephaly: Expanded imaging and clinical classification.
24
|
Di Donato N...Dobyns WB
|
28440899 |
2017 |
| 3 |
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.
24
|
Gonzalez-Moron D...Kauffman MA
|
28953922 |
2017 |
| 4 |
Stimulation of the bilateral anterior nuclei of the thalamus in the treatment of refractory epilepsy: two cases of subcortical band heterotopia.
24
|
Franco A...Bentes C
|
27965181 |
2016 |
| 5 |
Different Doublecortin (DCX) Patient Alleles Show Distinct Phenotypes in Cultured Neurons: EVIDENCE FOR DIVERGENT LOSS-OF-FUNCTION AND "OFF-PATHWAY" CELLULAR MECHANISMS.
24
|
Yap CC...Winckler B
|
27799303 |
2016 |
| 6 |
RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.
24
|
Valence S...Burglen L
|
27000652 |
2016 |
| 7 |
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
24
|
Di Donato N...Jinks RN
|
27773430 |
2016 |
| 8 |
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
24
|
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.
24
|
Tsai MH...Tsai JW
|
27292316 |
2016 |
| 10 |
Disorders of Microtubule Function in Neurons: Imaging Correlates.
24
|
Mutch CA...Barkovich AJ
|
26564436 |
2016 |
| 11 |
A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human.
24
|
Bourgeois F...Legay C
|
25817838 |
2015 |
| 12 |
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
24
|
Magen D...Mandel H
|
25560765 |
2015 |
| 13 |
Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism.
24
|
Moreira I...Chaves J
|
25645638 |
2015 |
| 14 |
Somatic mutations in cerebral cortical malformations.
24
|
Jamuar SS...Walsh CA
|
25140959 |
2014 |
| 15 |
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
24
|
Bahi-Buisson N...Chelly J
|
24860126 |
2014 |
| 16 |
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
24
|
Poirier K...Chelly J
|
23603762 |
2013 |
| 17 |
Mosaic DCX deletion causes subcortical band heterotopia in males.
24
|
Quelin C...Bahi-Buisson N
|
22833188 |
2012 |
| 18 |
Template-free 13-protofilament microtubule-MAP assembly visualized at 8 A resolution.
24
|
Fourniol FJ...Moores CA
|
20974813 |
2010 |
| 19 |
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.
24
|
Marcorelles P...Friocourt G
|
20461390 |
2010 |
| 20 |
Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies.
24
|
Wynshaw-Boris A...Hirotsune S
|
20688183 |
2010 |
| 21 |
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
24
|
Bruno DL...Schoumans J
|
20452996 |
2010 |
| 22 |
The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
24
|
Dobyns WB
|
20331703 |
2010 |
| 23 |
Doublecortin associates with microtubules preferentially in regions of the axon displaying actin-rich protrusive structures.
24
|
Tint I...Black MM
|
19726658 |
2009 |
| 24 |
Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.
24
|
Hoischen A...Haffner D
|
19444485 |
2009 |
| 25 |
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
24
|
Haverfield EV...Das S
|
19050731 |
2009 |
| 26 |
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
24
|
Leger PL...Bahi-Buisson N
|
18685874 |
2008 |
| 27 |
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
24
|
Uyanik G...Winkler J
|
17664403 |
2007 |
| 28 |
Distinct roles of doublecortin modulating the microtubule cytoskeleton.
24
|
Moores CA...Francis F
|
16957770 |
2006 |
| 29 |
The evolving doublecortin (DCX) superfamily.
24
|
Reiner O...Bergmann S
|
16869982 |
2006 |
| 30 |
Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development.
24
|
Ghai S...Blaser S
|
16549605 |
2006 |
| 31 |
Genotypically defined lissencephalies show distinct pathologies.
24
|
Forman MS...Golden JA
|
16215456 |
2005 |
| 32 |
Neuronal migration disorders, genetics, and epileptogenesis.
24
|
Guerrini R...Filippi T
|
15921228 |
2005 |
| 33 |
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered.
24
|
Leventer RJ
|
15921231 |
2005 |
| 34 |
Mitotic impairment by doublecortin is diminished by doublecortin mutations found in patients.
24
|
Couillard-Despres S...Aigner L
|
15045646 |
2004 |
| 35 |
Different clinical and morphological phenotypes in monozygotic twins with identical DCX mutation.
24
|
Martin P...Winkler J
|
14999500 |
2004 |
| 36 |
ARX mutations in X-linked lissencephaly with abnormal genitalia.
24
|
Uyanik G...Winkler J
|
12874405 |
2003 |
| 37 |
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
24
|
Guerrini R...Das S
|
12838518 |
2003 |
| 38 |
Doublecortin functions at the extremities of growing neuronal processes.
24
|
Friocourt G...Francis F
|
12764037 |
2003 |
| 39 |
Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.
24
|
Aigner L...Winkler J
|
12552055 |
2003 |
| 40 |
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
24
|
D'Agostino MD...Andermann E
|
12390976 |
2002 |
| 41 |
Surgical resection for intractable epilepsy in "double cortex" syndrome yields inadequate results.
24
|
Bernasconi A...Andermann F
|
11580758 |
2001 |
| 42 |
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
24
|
Demelas L...Das S
|
11468322 |
2001 |
| 43 |
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
24
|
Matsumoto N...Dobyns WB
|
11175293 |
2001 |
| 44 |
Patient mutations in doublecortin define a repeated tubulin-binding domain.
24
|
Taylor KR...Gleeson JG
|
10946000 |
2000 |
| 45 |
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
24
|
Gleeson JG...Walsh CA
|
10915612 |
2000 |
| 46 |
Doublecortin mutations cluster in evolutionarily conserved functional domains.
24
|
Sapir T...Reiner O
|
10749977 |
2000 |
| 47 |
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
24
|
Gleeson JG...Walsh CA
|
9989615 |
1999 |
| 48 |
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
24
|
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.
24
|
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.
24
|
Gleeson JG...Walsh CA
|
9489700 |
1998 |
