| 1 | TUBA1A mutations cause wide spectrum lissencephaly (s mooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. (20466733) | Kumar R.A.... Dobyns W.B. | 2010 | TUBA1A |
| 2 | Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. (20376468) | Lecourtois M.... LaquerriA"re A. | 2010 | ARX |
| 3 | LIS1-related isolated lissencephaly: spectrum of muta tions and relationships with malformation severity. (19667223) | Saillour Y.... Bahi-Buisson N. | 2009 | PAFAH1B1 |
| 4 | Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG). (18842366) | Miyata R.... Kohyama J. | 2009 | ARX |
| 5 | Three human ARX mutations cause the lissencephaly-lik e and mental retardation with epilepsy-like pleiotropic phenotypes in mice. (19605412) | Kitamura K.... Goto Y. | 2009 | ARX |
| 6 | Evidence for association between structural variants in lissencephaly-related genes and executive deficits in schizophrenia or bipolar patients from a Spanish isolate population. (19018238) | Tabares-Seisdedos R.... Martinez S. | 2008 | TP53, SMG6 |
| 7 | Molecular mechanism of lissencephaly--how LIS1 and NDEL1 regulate cytoplasmic dynein? (18421979) | Hirotsune S. | 2008 | PAFAH1B1, NDEL1 |
| 8 | Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. (18954413) | Morris-Rosendahl D.J.... Uyanik G. | 2008 | TUBA1A |
| 9 | The location of DCX mutations predicts malformation severity in X-linked lissencephaly. (18685874) | Leger P.L.... Bahi-Buisson N. | 2008 | DCX |
| 10 | Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. (18669490) | Fallet-Bianco C.... Francis F. | 2008 | TUBA1A, TUBA4A |
| 11 | Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). (17584854) | Poirier K.... Chelly J. | 2007 | TUBA1A |
| 12 | The structure of the coiled-coil domain of Ndel1 and the basis of its interaction with Lis1, the causal protein of Miller-Dieker lissencephaly. (17997972) | Derewenda U.... Derewenda Z.S. | 2007 | NDEL1, NDE1 |
| 13 | X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a report of siblings followed from the prenatal period (17515135) | Nanba Y.... Ohno K. | 2007 | ARX |
| 14 | Genetic and clinical aspects of lissencephaly (17571022) | Verloes A.... Gressens P. | 2007 | PAFAH1B1, ARX |
| 15 | Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence. (16814084) | Elias R.C.... Melaragno M.I. | 2006 | PAFAH1B1 |
| 16 | Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat. (14708103) | Thomas M.A.... Kaloustian V.M. | 2004 | PAFAH1B1 |
| 17 | Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. (14566414) | Miyata H.... Vinters H.V. | 2004 | DAB1 |
| 18 | Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia. (15007136) | Torres F.R.... Lopes-Cendes I. | 2004 | PAFAH1B1 |
| 19 | Cortical dysplasia resembling human type 2 lissencephaly in mice lacking all three APP family members. (15385965) | Herms J.... Muller U. | 2004 | APLP2, APLP1 |
| 20 | ARX mutations in X-linked lissencephaly with abnormal genitalia. (12874405) | Uyanik G.... Winkler J. | 2003 | ARX |
| 21 | 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. (12621583) | Cardoso C.... Ledbetter D.H. | 2003 | YWHAE, PAFAH1B1, RPA1 |
| 22 | Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. (12379852) | Kitamura K.... Morohashi K. | 2002 | ARX |
| 23 | LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. (11502906) | Leventer R.J.... Dobyns W.B. | 2001 | PAFAH1B1 |
| 24 | Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly. (10729324) | Fleck M.W.... McBain C.J. | 2000 | PAFAH1B1 |
| 25 | Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus. (10828595) | McHale J.C.... Inglehearn C.F. | 2000 | PRPF8 |
| 26 | Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin. (10987567) | Gleeson J.G. | 2000 | DCX |
| 27 | Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. (10973257) | Hong S.E.... Walsh C.A. | 2000 | LRP8, RELN |
| 28 | Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence. (10807542) | Sakamoto M.... Kurahashi H. | 2000 | DCX |
| 29 | The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. (11115846) | Cardoso C.... Ledbetter D.H. | 2000 | PAFAH1B1 |
| 30 | Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. (10727864) | Sweeney K.J.... Eichele G. | 2000 | PAFAH1B1, PAFAH1B3, PAFAH1B2 |
| 31 | Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. (9989616) | Fogli A.... Carrozzo R. | 1999 | PAFAH1B1 |
| 32 | Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. (10430413) | Dobyns W.B.... Barkovich A.J. | 1999 | PAFAH1B1, DCX |
| 33 | Drosophila Lissencephaly-1 functions with Bic-D and dynein in oocyte determination and nuclear positioning. (10559989) | Swan A.... Suter B. | 1999 | BICD1 |
| 34 | Analysis of lissencephaly-causing LIS1 mutations. (10583396) | Sapir T.... Reiner O. | 1999 | PAFAH1B1 |
| 35 | Lis1, the Drosophila homolog of a human lissencephaly disease gene, is required for germline cell division and oocyte differentiation. (10498683) | Liu Z.... Steward R. | 1999 | PAFAH1B1 |
| 36 | X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. (10494089) | Dobyns W.B.... Viskochil D. | 1999 | DCX |
| 37 | A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia. (10369164) | Kato M.... Hayasaka K. | 1999 | DCX |
| 38 | The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC. (9601647) | Morris S.M.... Yu-Lee L.Y. | 1998 | PAFAH1B1, NUDC |
| 39 | A novel CNS gene required for neuronal migration and involved in X- linked subcortical laminar heterotopia and lissencephaly syndrome. (9489699) | Des Portes V.... Chelly J. | 1998 | DCX |
| 40 | Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. (9063735) | Lo Nigro C.... Ledbetter D.H. | 1997 | PAFAH1B1 |
| 41 | Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region. (9199935) | Hirotsune S.... Wynshaw-Boris A. | 1997 | MNT |
| 42 | A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. (9063734) | Chong S.S.... Ledbetter D.H. | 1997 | PAFAH1B1 |
| 43 | Cobblestone lissencephaly with normal eyes and muscle. (8737821) | Dobyns W.B.... Northrup H. | 1996 | FKTN |
| 44 | Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly s yndrome? (9050048) | Seidahmed M.Z.... Salih M.A. | 1996 | DAG1 |
| 45 | Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome. (7573359) | Mizuguchi M.... Ikeda K. | 1995 | PAFAH1B1 |
| 46 | Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration. (7751941) | Reiner O.... Caskey C.T. | 1995 | PAFAH1B1 |
| 47 | LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2. (8586424) | Reiner O.... Cahana A. | 1995 | PAFAH1B1 |
| 48 | Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected (8028668) | Hattori M.... Inoue K. | 1994 | PLA2G7, PAFAH1B1 |
| 49 | Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. (7907669) | Dobyns W.B.... Ledbetter D.H. | 1993 | PAFAH1B1 |
| 50 | Structure in lissencephaly determined by immunohistochemical staining. (1705801) | Houdou S.... Takashima S. | 1990 | SYP |
