Works matching DE "LISSENCEPHALY"

Results: 222

Prenatal diagnosis of lissencephaly: A case report.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2016, v. 73, n. 1, p. 77, doi. 10.2298/VSP140806010C

By:

Cerovac, Nataša;
Terzić, Milan;
Borković, Milan;
Divac, Nevena;
Stojanović, Radan;
Prostran, Milica

Publication type:

Article

Demonstration of different histological layers of the pachygyria/agyria cortex using diffusion tensor MR imaging.

Published in:

Surgical & Radiologic Anatomy, 2013, v. 35, n. 5, p. 427, doi. 10.1007/s00276-012-1050-8

By:

Aziz, Zarina;
Saini, Jitender;
Bindu, P.;
Sharath Kumar, G.

Publication type:

Article

Isoform-dependent effects of apoE on doublecortin-positive cells and microtubule-associated protein 2 immunoreactivity following <sup>137</sup>Cs irradiation.

Published in:

Radiation & Environmental Biophysics, 2010, v. 49, n. 3, p. 421, doi. 10.1007/s00411-010-0290-4

By:

Villasana, Laura;
Pfankuch, Timothy;
Raber, Jacob

Publication type:

Article

Clinical and neuroimaging findings in patients with lissencephaly/subcortical band heterotopia spectrum: a magnetic resonance conventional and diffusion tensor study.

Published in:

Neuroradiology, 2022, v. 64, n. 4, p. 825, doi. 10.1007/s00234-021-02836-2

By:

Chiba, Emiko;
Kimura, Yukio;
Shimizu-Motohashi, Yuko;
Miyagawa, Nozomi;
Ota, Miho;
Shigemoto, Yoko;
Ohnishi, Masahiro;
Nakaya, Moto;
Nakagawa, Eiji;
Sasaki, Masayuki;
Sato, Noriko

Publication type:

Article

The Japanese Society of Neuropathology.

Published in:: Neuropathology, 2011, v. 31, n. 3, p. 309, doi. 10.1111/j.1440-1789.2010.01226.x
Publication type:: Article

An 11-month-old boy with intractable epilepsy from birth.

Published in:

2009

By:

Itoh, Masayuki

Publication type:

Other

Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker–Warburg syndrome.

Published in:

Neuropathology, 2008, v. 28, n. 3, p. 333, doi. 10.1111/j.1440-1789.2007.00856.x

By:

Ulfig, Norbert;
Steinbrecher, Alice;
Stoltenburg-Didinger, Gisela;
Rezaie, Payam

Publication type:

Article

A mechanical model predicts morphological abnormalities in the developing human brain.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep05644

By:

Budday, Silvia;
Raybaud, Charles;
Kuhl, Ellen

Publication type:

Article

先天性巨脑回畸形.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2016, v. 16, n. 2, p. 87, doi. 10.3969/j.issn.1672-6731.2016.02.005

By:

胡京霞;
孙美美;
桂秋萍;
李杰;
宋欣;
周文静

Publication type:

Article

Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport.

Published in:

Nature Cell Biology, 2000, v. 2, n. 11, p. 776, doi. 10.1038/35041011

By:

Liu, Zhao;
Steward, Ruth;
Luo, Liqun

Publication type:

Article

A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function.

Published in:

Nature Cell Biology, 2000, v. 2, n. 11, p. 784, doi. 10.1038/35041020

By:

Faulkner, Nicole E.;
Dujardin, Denis L.;
Tai, Chin-Yin;
Vaughan, Kevin T.;
O'Connell, Christopher B.;
Wang, Yu-li;
Vallee, Richard B.

Publication type:

Article

A rough guide to a smooth brain.

Published in:

Nature Cell Biology, 2000, v. 2, n. 11, p. E201, doi. 10.1038/35041123

By:

Morris, Ron

Publication type:

Article

Drosophila Lissencephaly-1 functions with Bic-D and dynein in oocyte determination and nuclear positioning.

Published in:

Nature Cell Biology, 1999, v. 1, n. 7, p. 444, doi. 10.1038/15680

By:

Swan, Andrew;
Nguyen, Thuy;
Suter, Beat

Publication type:

Article

In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.

Published in:

Molecular Brain, 2016, v. 9, p. 1, doi. 10.1186/s13041-016-0246-y

By:

Yohei Bamba;
Tomoko Shofuda;
Mitsuhiro Kato;
Pooh, Ritsuko K.;
Yoko Tateishi;
Jun-ichi Takanashi;
Hidetsuna Utsunomiya;
Miho Sumida;
Daisuke Kanematsu;
Hiroshi Suemizu;
Yuichiro Higuchi;
Wado Akamatsu;
Denis Gallagher;
Miller, Freda D.;
Mami Yamasaki;
Yonehiro Kanemura;
Hideyuki Okano

Publication type:

Article

Genes and brain malformations associated with abnormal neuron positioning.

Published in:

Molecular Brain, 2015, v. 8, p. 1, doi. 10.1186/s13041-015-0164-4

By:

Moffat, Jeffrey J.;
Minhan Ka;
Eui-Man Jung;
Woo-Yang Kim

Publication type:

Article

Rab-mediated vesicular transport is required for neuronal positioning in the developing Drosophila visual system.

Published in:

Molecular Brain, 2010, v. 3, p. 19, doi. 10.1186/1756-6606-3-19

By:

Houalla, Tarek;
Lei Shi;
van Meyel, Donald J.;
Yong Rao

Publication type:

Article

Singing the Blues: Is It Really Cyanosis?

Published in:

2008

By:

Baerstein, Amy;
Smith, Kelly M.;
Elmore, Joann G.

Publication type:

Case Study

Neuronal migration disorders: clinical, neuroradiologic and genetics aspects.

Published in:

Acta Paediatrica, 2009, v. 98, n. 3, p. 421, doi. 10.1111/j.1651-2227.2008.01160.x

By:

Spalice, Alberto;
Parisi, Pasquale;
Nicita, Francesco;
Pizzardi, Giorgia;
Del Balzo, Francesca;
Iannetti, Paola

Publication type:

Article

Incidence of fetal akinesia-hypokinesia deformation sequence: a population-based study.

Published in:

2009

By:

Bayat, Allan;
Petersen, Astrid;
Møller, Margrethe;
Andersen, Graziella;
Ebbesen, Finn

Publication type:

Letter

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Published in:

2019

By:

Hebebrand, Moritz;
Hüffmeier, Ulrike;
Trollmann, Regina;
Hehr, Ute;
Uebe, Steffen;
Ekici, Arif B.;
Kraus, Cornelia;
Krumbiegel, Mandy;
Reis, André;
Thiel, Christian T.;
Popp, Bernt

Publication type:

journal article

Restrictive Dermopathy Due to ZMPSTE24 Mutation: A Case Report with a Novel Finding of Corpus Callosum Agenesis.

Published in:

Indian Journal of Dermatology, 2024, v. 69, n. 1, p. 95, doi. 10.4103/ijd.ijd_681_23

By:

Chiramel, Minu Jose;
Sathishkumar, Dharshini;
Santhanam, Sridhar;
Ponmudi, Nithya J.;
Telugu, Ramesh Babu;
Mohan, Sony;
Athiyarath, Rekha

Publication type:

Article

Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis.

Published in:

Neurogenetics, 2006, v. 7, n. 1, p. 39, doi. 10.1007/s10048-005-0014-0

By:

Poirier, K.;
Lacombe, D.;
Gilbert-Dussardier, B.;
Raynaud, M.;
Desportes, V.;
Brouwer, A.;
Moraine, C.;
Fryns, J.;
Ropers, H.;
Beldjord, C.;
Chelly, J.;
Bienvenu, T.

Publication type:

Article

Novel genetic tools facilitate the study of cortical neuron migration.

Published in:

Mammalian Genome, 2016, v. 27, n. 1/2, p. 8, doi. 10.1007/s00335-015-9615-6

By:

Cionni, Megan;
Menke, Chelsea;
Stottmann, Rolf

Publication type:

Article

A MODEL OF THE FORMATION OF THE CEREBRAL CORTEX THROUGH A MIXED APPROACH OF REACTION DIFFUSION EQUATIONS AND MECHANICAL STRAIN.

Published in:

Journal of Mechanics in Medicine & Biology, 2012, v. 12, n. 5, p. -1, doi. 10.1142/S021951941250090X

By:

GARZÓN-ALVARADO, DIEGO A

Publication type:

Article

A Case of Cecal Volvulus Presenting with Chronic Constipation in Lissencephaly.

Published in:

2013

By:

Eun-Kyung Lee;
Ji Eun Kim;
Yun-young Lee;
Saeyoon Kim;
Kwang Hea Choi

Publication type:

Case Study

A rare association of congenital melanocytic nevus and lissencephaly in childhood seizure.

Published in:

2016

By:

Kalwaniya, Sarita;
Choudhary, Pradeep;
Khokhar, Harsh Vardhan;
Yadav, Devendra

Publication type:

Case Study

RAIDD mutations underlie the pathogenesis of thin lissencephaly (TLIS).

Published in:

PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205042

By:

Ha, Hyun Ji;
Park, Hyun Ho

Publication type:

Article

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.

Published in:

PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185103

By:

González-Morón, Dolores;
Vishnopolska, Sebastián;
Consalvo, Damián;
Medina, Nancy;
Marti, Marcelo;
Córdoba, Marta;
Vazquez-Dusefante, Cecilia;
Claverie, Santiago;
Rodríguez-Quiroga, Sergio Alejandro;
Vega, Patricia;
Silva, Walter;
Kochen, Silvia;
Kauffman, Marcelo Andrés

Publication type:

Article

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

Published in:

Frontiers in Cellular Neuroscience, 2015, p. 1, doi. 10.3389/fnins.2015.00181

By:

Mitsuhiro Kato

Publication type:

Article

Missense mutations resulting in type 1 lissencephaly.

Published in:

Cellular & Molecular Life Sciences, 2005, v. 62, n. 4, p. 425, doi. 10.1007/s00018-004-4344-0

By:

Reiner, O.;
Coquelle, F. M.

Publication type:

Article

Lissencephaly in an adult Australian Kelpie.

Published in:

Australian Veterinary Journal, 2016, v. 94, n. 4, p. 107, doi. 10.1111/avj.12423

By:

Fraser, AR;
le Chevoir, MA;
Long, SN

Publication type:

Article

In this issue - April 2016.

Published in:

2016

By:

Cabral, Liliane

Publication type:

Editorial

Neuronal Migration Dynamics in the Developing Ferret Cortex.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 42, p. 14307, doi. 10.1523/JNEUROSCI.2198-15.2015

By:

Gertz, Caitlyn C.;
Kriegstein, Arnold R.

Publication type:

Article

Reelin Prevents Apical Neurite Retraction during Terminal Translocation and Dendrite Initiation.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 30, p. 10659, doi. 10.1523/JNEUROSCI.1629-15.2015

By:

O'Dell, Ryan S.;
Cameron, David A.;
Zipfel, Warren R.;
Olson, Eric C.

Publication type:

Article

DBZ Regulates Cortical Cell Positioning and Neurite Development by Sustaining the Anterograde Transport of Lis1 and DISC1 through Control of Ndel1 Dual-Phosphorylation.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 7, p. 2942, doi. 10.1523/JNEUROSCI.5029-13.2015

By:

Masayukiy Okamoto;
Tokuichi Iguchi;
Tsuyoshi Hattori;
Shinsuke Matsuzaki;
Yoshihisa Koyama;
Manabu Taniguchi;
Munekazu Komada;
Min-Jue Xie;
Hideshi Yagi;
Shoko Shimizu;
Yoshiyuki Konishi;
Minoru Omi;
Tomohiko Yoshimi;
Taro Tachibana;
Shigeharu Fujieda;
Taiichi Katayama;
Akira Ito;
Shinji Hirotsune;
Masaya Tohyama;
Makoto Sato

Publication type:

Article

Doublecortin (Dcx) Family Proteins Regulate Filamentous Actin Structure in Developing Neurons.

Published in:

Journal of Neuroscience, 2013, v. 33, n. 2, p. 709, doi. 10.1523/JNEUROSCI.4603-12.2013

By:

Xiaoqin Fu;
Brown, Kristy J.;
Chan Choo Yap;
Winckler, Bettina;
Jaiswal, Jyoti K.;
Liu, Judy S.

Publication type:

Article

LISI Deficiency Promotes Dysfunctional Synaptic Integration of Granule Cells Generated in the Developing and Adult Dentate Gyrus.

Published in:

Journal of Neuroscience, 2012, v. 32, n. 37, p. 12862, doi. 10.1523/JNEUROSCI.1286-12.2012

By:

Hunt, Robert F.;
Dinday, Matthew T.;
Hindle-Katel, William;
Baraban, Scott C.

Publication type:

Article

Doublecortin (DCX) Mediates Endocytosis of Neurofascin Independently of Microtubule Binding.

Published in:

Journal of Neuroscience, 2012, v. 32, n. 22, p. 7439, doi. 10.1523/JNEUROSCI.5318-11.2012

By:

Chan Choo Yap;
Vakulenko, Max;
Kruczek, Kamil;
Motamedi, Bashir;
Digilio, Laura;
Liu, Judy S.;
Winckler, Bettina

Publication type:

Article

Inhibition of PP2A by LIS1 increases HIV-1 gene expression.

Published in:

Retrovirology, 2006, v. 3, p. 65, doi. 10.1186/1742-4690-3-65

By:

Epie, Nicolas;
Ammosova, Tatyana;
Turner, Willie;
Nekhai, Sergei

Publication type:

Article

Malformations of Cortical Development: From Postnatal to Fetal Imaging.

Published in:

Canadian Journal of Neurological Sciences, 2016, v. 43, n. 5, p. 611, doi. 10.1017/cjn.2016.271

By:

Lerman-Sagie, Tally;
Leibovitz, Zvi

Publication type:

Article

Miller–Dieker syndrome, type 1 lissencephaly.

Published in:

2008

By:

Herman, T. E.;
Siegel, M. J.

Publication type:

Case Study

Epidemiology, treatment and outcome of patients after severe traumatic brain injury in European regions with different economic status.

Published in:

European Journal of Public Health, 2008, v. 18, n. 6, p. 575, doi. 10.1093/eurpub/ckn079

By:

Mauritz, Walter;
Wilbacher, Ingrid;
Majdan, Marek;
Leitgeb, Johannes;
Janciak, Ivan;
Brazinova, Alexandra;
Martin Rusnak!!

Publication type:

Article

Postnatal Gene Therapy Improves Spatial Learning Despite the Presence of Neuronal Ectopia in a Model of Neuronal Migration Disorder.

Published in:

Genes, 2016, v. 7, n. 12, p. 105, doi. 10.3390/genes7120105

By:

Huaiyu Hu;
Yu Liu;
Kevin Bampoe;
Yonglin He;
Miao Yu

Publication type:

Article

Simple carbohydrate metabolism & disease: exploring the regulatory mechanisms.

Published in:: Clinical Chemistry & Laboratory Medicine, 2008, v. 46, p. S343, doi. 10.1515/CCLM.2008.409
Publication type:: Article

Insights into the gyrification of developing ferret brain by magnetic resonance imaging.

Published in:

Journal of Anatomy, 2007, v. 210, n. 1, p. 66, doi. 10.1111/j.1469-7580.2006.00674.x

By:

Neal, Jason;
Takahashi, Masaya;
Silva, Matthew;
Tiao, Grace;
Walsh, Christopher A.;
Sheen, Volney L.

Publication type:

Article

Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs.

Published in:

BMC Veterinary Research, 2013, v. 9, n. 1, p. 1, doi. 10.1186/1746-6148-9-156

By:

Pérez, Valentín;
Suárez-Vega, Aroa;
Fuertes, Miguel;
Benavides, Julio;
Delgado, Laetitia;
Ferreras, M Carmen;
Arranz, Juan José

Publication type:

Article

Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy.

Published in:

Annals of Indian Academy of Neurology, 2021, v. 24, n. 2, p. 198, doi. 10.4103/aian.AIAN_18_20

By:

Mhatre, Radhika;
Sekar, Deepha;
Ponmalar, Jessiena;
Nagappa, Madhu;
Veeramani, Preethish-Kumar;
Polavarapu, Kiran;
Vengalil, Seena;
Atchayaram, Nalini;
Narayanappa, Gayathri

Publication type:

Article

A Cdk5-Dependent Switch Regulates Lis1/Ndel1/ Dynein-Driven Organelle Transport in Adult Axons.

Published in:

Journal of Neuroscience, 2011, v. 31, n. 47, p. 17207, doi. 10.1523/JNEUROSCI.4108-11.2011

By:

Pandey, Jai P.;
Smith, Deanna S.

Publication type:

Article

Toward Behavioral Benchmarks for Whisker-Related Sensory Processing.

Published in:

Journal of Neuroscience, 2010, v. 30, n. 14, p. 4827, doi. 10.1523/JNEUROSCI.0713-10.2010

By:

Stüttgen, Maik C.

Publication type:

Article

Arx Is a Direct Target of Dlx2 and Thereby Contributes to the Tangential Migration of GABAergic Interneurons.

Published in:

Journal of Neuroscience, 2008, v. 28, n. 42, p. 10674, doi. 10.1523/JNEUROSCI.1283-08.2008

By:

Colasante, Gaia;
Collombat, Patrick;
Raimondi, Valentina;
Bonanomi, Dario;
Ferrai, Carmelo;
Maira, Mario;
Yoshikawa, Kazuaki;
Mansouri, Ahmed;
Valtorta, Flavia;
Rubenstein, John L. R.;
Broccoli, Vania

Publication type:

Article