Results 71 to 80 of about 13,805 (257)

Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study

American Journal of Neuroradiology, 2020
The authors retrospectively reviewed 50 patients (mean age, 8.3 years) with different polymicrogyria (n = 42) and lissencephaly (n = 8) subtypes. The fiber direction-encoded color maps and 6 different white matter tracts reconstructed from each patient ...
F. Arrigoni, D. Peruzzo, S. Mandelstam, Gabriele Amorosino, D. Redaelli, R. Romaniello, R. Leventer, R. Borgatti, M. Seal, J. Y. Yang   +9 more
semanticscholar   +1 more source

Lissencephaly and cerebellar hypoplasia in a goat

Ciência Rural, 2013
A case of lissencephaly and cerebellar hypoplasia was observed in a 30-day-old goat. The goat presented with sternal recumbence, absence of a menace response, intention tremors, ataxia, and nystagmus.
José Rômulo Soares dos Santos, Antônio Flavio Medeiros Dantas, Clarice Ricardo Macedo Pessoa, Tatiane Rodrigues Silva, Sara Vilar Dantas Simões, Franklin Riet Correa, Daniel Pedrosa   +6 more
doaj   +1 more source

Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome

Journal of Family Medicine and Primary Care, 2020
X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia are the classical features of XLAG syndrome and as of now very few cases have been reported in the literature.
Anjali Verma, Rashika Jain, Neha Babbar, Sudeep Kumar   +3 more
doaj   +1 more source

Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders [PDF]

, 2013
Prova tipográfica (uncorrected proof)Neurodevelopmental disorders such as epilepsy, intellectual disability (ID), and autism spectrum disorders (ASDs) occur in over 2 % of the population, as the result of genetic mutations, environmental factors, or ...
A Briancon-Marjollet, A Chauhan, A Gloria-Soria, A Kuhara, A Mohri, A Okazaki, A Rosenthal, A Teixeira-Castro, A Thorsell, A Ward, AA Beg, AB Vashlishan, AC Hart, AG Fraser, AG Wright, AJ Rodrigues, AJ Rodrigues, AK Fu, AM Bender, AM Koivisto, AM Leifer, Ana João Rodrigues, AY Hung, B Calamini, B Hsiao, BA Bamber, BA Bamber, BC Kraemer, BC Kraemer, BC Kraemer, C Aydin, C Caceres Ide, C Cardoso, C Fatouros, C Jee, C Joly, C Lenski, C Rogers, C Sala, C Sala, C Stigloher, Carlos Bessa, CD Beck, CD Link, CH Rankin, CI Bargmann, CJ Epstein, CJ Locke, CJ Locke, CL Gatto, CR Guthrie, D Castermans, D Kleine-Kohlbrecher, D Lee, D Lee, D Levitan, D Sato, D Sieburth, D Weinshenker, DC Soares, DD Shaye, DF Cully, DH Hall, DJ Clancy, DJ Picketts, DL Chase, DT Pilz, E Fransen, E Kabashi, E Yeh, EZ Macosko, F Calahorro, F Calahorro, F Guedj, F Laumonnier, F Laumonnier, F Piano, F Simmer, F Simmer, F Zhang, FF Hamdan, FS Alkuraya, G Esposito, G Jansen, G Kerjan, G Voer de, GE Morrison, GG Farias, GP Demyanenko, GP Demyanenko, GP Demyanenko, H Asada, H Khosravani, H Lubs, H Saitsu, H Sasakura, H Zhao, HG Kim, HK Shamloula, I Helbig, I Mori, I Topalidou, J Apfeld, J Bond, J Falk, J Higgins, J Ortiz-Abalia, J Park, J Pevsner, J Qiu, J Yan, JA Dent, JA Kearney, JA Zallen, JB Ackman, JB Palcoux, JE Chubb, JE Lee, JE Mellem, JE Richmond, JF Liewald, JG Culotti, JG White, JI Lee, JJ Fuentes, JK Rose, JK Rose, JL Noebels, JL Noebels, JM Bellanger, JM Kramer, JM McEwen, JM Wheeler, JN Pulvers, JN Stirman, JR Arron, JS Dittman, JW Hunter, JY Wen, K Evason, K Evason, K Gengyo-Ando, K Kitamura, K Nehrke, K Poirier, K Rijkers, K Schuske, K Sossey-Alaoui, K Volders, KD Kernohan, KD Kimura, L Avery, L Haklai-Topper, L Medrihan, L Timmons, LA Brown, LM Dibbens, M Artal-Sanz, M Ballivet, M Bono de, M Chalfie, M Chalfie, M Dierssen, M Galli, M Guipponi, M Hammarlund, M Holzenberger, M Jensen, M Jouet, M Katidou, M Marvanova, M Rachidi, M Rachidi, M Tatar, M Tucker, M Verhage, M Voet van der, M Zhen, MB Goodman, MD Bono, MH Willemsen, MK Monteilh-Zoller, ML Nonet, ML Nonet, MM Barr, MM Francis, MM Francis, MN Wu, N Souza de, N Tavernarakis, N Wittenburg, NP Mongan, O Hobert, OK Steinlein, OK Steinlein, P Cossette, P Gonczy, P Igarashi, P Strippoli, P Stromme, PA Filipek, Patrícia Maciel, PJ Brockie, PJ Brockie, PW Faber, Q Liu, Q Wu, R Baran, R Baumeister, R Gibbons, R Kerr, R Nass, R O'Hagan, R Pandey, R Pocock, RA Kumar, RB Forthun, RD Groth, RJ Gibbons, RK Choy, RK Choy, RK Hukema, RM Weimer, RY Lee, S Cao, S Hamamichi, S Harbinder, S Hirose, S Jamain, S Libert, S Lin, S Naisbitt, S Ramanathan, S Saeki, S Steidl, S Vartiainen, S-Y Chen, SB Pierce, SE Hong, SF Kash, SH Chung, SH Gerber, SH Satyal, SJ Kulkarni, SL Smart, SN Williams, SR Lockery, SR Wicks, SR Wicks, T Chae, T Karl, T Marui, T Melkman, T Miyasaka, T Nguyen, T Oeda, TC Kwok, TE Thorgeirsson, TG Smart, TH Lindsay, TM DeLorey, TM Stawicki, TW Abrams, V Castellani, V Schuler, VM Kalscheuer, W Li, W Li, WB Dobyns, WB Raich, WC Oh, WT Nickell, X Wang, X Wang, X Wang, X Zhang, XH Jaglin, Y Jin, Y Lu, Y Nishida, Y Sambongi, Y Zhang, YB Qi   +282 more
core   +1 more source

Anesthetic Management and Bispectral Index in a Child with Miller–Dieker Syndrome: A Case Report

Children, 2023
Miller–Dieker syndrome (MDS) is a genetic disorder characterized by classic lissencephaly, distinctive facial features, intellectual disability, seizures, and early death. The anesthetic management of patients with MDS should focus on airway manipulation
Sang Jin Park, Jongyoon Baek, Suyoun Chun, Eun Kyung Choi   +3 more
doaj   +1 more source

Lizensefali Tip 1'in eşlik ettiği dikkat eksikliği ve hiperaktivite bozukluğu

Sakarya Tıp Dergisi, 2012
Dikkat Eksikliği Hiperaktivite Bozukluğu (DEHB) dikkatsizlik, dikkat dağınıklığı, yerinde duramama,aşırı hareketlilik, dürtüsellik ile karakterizedir. DEHB'de beyinde yapısal ve fonksiyonel değişikliklerin olduğuna dair kanıtlar vardır.
Dilcan Kotan, İsmet Kırpınar, Tülin Fidan   +2 more
doaj   +1 more source

Lissencephaly-A Brain Flawed

International Journal of Medical Research and Review, 2016
We present a case report of a twelve-day old child suffering from seizures, in which magnetic resonance imaging (MRI) established the diagnosis of Lissencephaly. Although the causes of this disease entity are manifold, MRI can reveal stigmata of antenatal maternal infections in the child.
Saryu Gupta, Manoj Mathur
openaire   +3 more sources

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

Frontiers in Genetics, 2018
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred.
Sara M. Blazejewski, Sarah A. Bennison, Trevor H. Smith, Kazuhito Toyo-oka   +3 more
doaj   +1 more source

Congenital microcephaly [PDF]

, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha, Ahmad, Arai, Banin, Bettencourt-Dias, Bicknell, Bicknell, Bolanos-Garcia, Bond, Bongers, Buchman, Caldecott, Caldecott, Capo-Chichi, Carney, Casey, Cimprich, Cizmecioglu, Croteau, Dehay, Dehay, Deriano, Domchek, Fish, Gatz, Gellert, Genin, Gilmore, Gineau, Gorlin, Griffith, Gruber, Guernsey, Han, Hanks, Heldin, Hemerly, Herzog, Heyer, Hickson, Hinchcliffe, Hughes, Issa, Jaglin, Jamieson, Kang, Kee, Kerzendorfer, Kim, Kiyomitsu, Kiyomitsu, Koch, Kumagai, Kuo, Lancaster, Lavin, Lee, Lee, Lee, Lobrich, Loveday, Loveday, Mahmood, Maréchal, Matsumoto, Matsuoka, Matsuura, Meindl, Mimitou, Mirzaa, Miyoshi, Miyoshi, Moldovan, Morris-Rosendahl, Moshous, Moynahan, Murga, Murray, Musacchio, Mühlhans, Noguchi, Novorol, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Ogi, Orii, Pilaz, Poirier, Ponting, Qvist, Rakic, Rauch, Riballo, Romaniello, Roos, Rudner, Schneider, Shah, Shaheen, Shaheen, Shamseldin, Shen, Shiloh, Sir, Sirbu, Sokka, Spalding, Spassky, Stewart, Stiff, Stokes, Symington, Tan, Thornton, van der Burg, van der Lelij, Varon, Verloes, Walczak, Waltes, Weedon, Weinfeld, Woodbine, Woods, Wu, Zimmerman   +129 more
core   +1 more source

Midbrain–hindbrain involvement in lissencephalies [PDF]

Neurology, 2009
To determine the involvement of the midbrain and hindbrain (MHB) in the groups of classic (cLIS), variant (vLIS), and cobblestone complex (CBSC) lissencephalies and to determine whether a correlation exists between the cerebral malformation and the MHB abnormalities.MRI scans of 111 patients (aged 1 day to 32 years; mean 5 years 4 months) were ...
Jissendi Tchofo, Patrice, Kara, Simay, Barkovich, A James   +2 more
openaire   +4 more sources