1 |
Tubulin mutations in human neurodevelopmental disorders.
62
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Maillard C...Buisson NB
|
35915025 |
2023 |
2 |
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
62
|
Weber M...Martinovic J
|
35686685 |
2022 |
3 |
Neurological outcome in WDR62 primary microcephaly.
62
|
Ruaud L...Passemard S
|
35726608 |
2022 |
4 |
Magnetic Resonance Imaging of Malformations of Cortical Development-A Comprehensive Review.
62
|
Khandelwal A...Bose A
|
34896352 |
2022 |
5 |
NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.
62
|
Bas H...Artan S
|
34562061 |
2022 |
6 |
A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.
62
|
Kalmar T...Sztriha L
|
33996189 |
2021 |
7 |
Two different prenatal imaging cerebral patterns of tubulinopathy.
62
|
Cabet S...Guibaud L
|
32149430 |
2021 |
8 |
Electrographic pattern recognition: A simple tool to predict clinical outcome in children with lissencephaly.
62
|
Jauhari P...Gulati S
|
33161247 |
2020 |
9 |
[Microlissencephaly due to pathogenic variants of NDE1: from pathology to normal brain development].
62
|
Cabet S...Sanlaville D
|
33026328 |
2020 |
10 |
Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association.
62
|
Darouich S...Amraoui N
|
31859376 |
2020 |
11 |
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.
62
|
Saugier-Veber P...Laquerriere A
|
31770597 |
2020 |
12 |
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
62
|
Ghosh SG...Gleeson JG
|
31586943 |
2020 |
13 |
Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly.
62
|
Abdel-Hamid MS...Abdel-Salam GMH
|
30637988 |
2019 |
14 |
Tubulin genes and malformations of cortical development.
62
|
Romaniello R...Cushion TD
|
30016746 |
2018 |
15 |
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
62
|
Cavallin M...Bahi-Buisson N
|
28969387 |
2017 |
16 |
Value of Repeat Brain MRI in Children with Focal Epilepsy and Negative Findings on Initial MRI.
62
|
Jeon TY...Lee M
|
28670168 |
2017 |
17 |
Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics.
62
|
Jin M...Hirotsune S
|
28079116 |
2017 |
18 |
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
62
|
Harding BN...Bielas SL
|
27453579 |
2016 |
19 |
[Neu-Laxova syndrome: Three case reports and a review of the literature].
62
|
Darouich S...Masmoudi A
|
27475004 |
2016 |
20 |
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.
62
|
Laquerriere A...Poirier K
|
26732629 |
2016 |
21 |
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.
62
|
Abdel Razek AA...Castillo M
|
26599961 |
2016 |
22 |
TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation.
62
|
Myers KA...Innes AM
|
26294046 |
2015 |
23 |
Rare ACTG1 variants in fetal microlissencephaly.
62
|
Poirier K...Bahi-Buisson N
|
26188271 |
2015 |
24 |
A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly.
62
|
Tosello B...Gire C
|
25927602 |
2015 |
25 |
Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.
62
|
Abdel-Salam GM...Gaber KR
|
25755095 |
2015 |
26 |
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.
62
|
Kato M
|
26052266 |
2015 |
27 |
Katanin p80 regulates human cortical development by limiting centriole and cilia number.
62
|
Hu WF...Walsh CA
|
25521379 |
2014 |
28 |
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?
62
|
Poulton CJ...Mancini GM
|
24842779 |
2014 |
29 |
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
62
|
Fallet-Bianco C...Bahi-Buisson N
|
25059107 |
2014 |
30 |
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
62
|
Bahi-Buisson N...Chelly J
|
24860126 |
2014 |
31 |
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.
62
|
Guven A...Tolun A
|
22526350 |
2012 |
32 |
Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
62
|
Bhat V...Kumar A
|
21496009 |
2011 |
33 |
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].
62
|
Alkuraya FS...Walsh CA
|
21529751 |
2011 |
34 |
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.
62
|
Bakircioglu M...Woods CG
|
21529752 |
2011 |
35 |
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.
62
|
Juric-Sekhar G...Hevner RF
|
20857301 |
2011 |
36 |
Lissencephalic syndromes: brain and beyond.
62
|
Pavone L...Iannetti P
|
20036930 |
2010 |
37 |
[Genetic and clinical aspects of lissencephaly].
62
|
Verloes A...Gressens P
|
17571022 |
2007 |
38 |
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia.
62
|
Sztriha L...Al-Gazali LI
|
15794192 |
2005 |
39 |
Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.
62
|
Klinge L...Voit T
|
12571786 |
2002 |
40 |
Microlissencephaly with cardiac, spinal and urogenital defects.
62
|
Gardner RJ...Suthers GK
|
11446415 |
2001 |
41 |
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome?
62
|
Kato M...Hayasaka K
|
10514106 |
1999 |
42 |
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.
62
|
Sztriha L...Nork M
|
10480209 |
1999 |
43 |
Microlissencephaly: a heterogeneous malformation of cortical development.
62
|
Barkovich AJ...Evrard P
|
9706619 |
1998 |
44 |
Microlissencephaly.
62
|
Sztriha L...Varughese M
|
9588537 |
1998 |
45 |
Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study.
62
|
Kroon AA...Hennekam RC
|
8971750 |
1996 |