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Items: 13

Select item 92093651.

SHANK3 deficiency leads to myelin defects in the central and peripheral nervous system

Mariagiovanna Malara, Anne-Kathrin Lutz, Berra Incearap, Helen Friedericke Bauer, Silvia Cursano, Katrin Volbracht, Joanna Janina Lerner, Rakshita Pandey, Jan Philipp Delling, Valentin Ioannidis, Andrea Pérez Arévalo, Jaime Eugenin von Bernhardi, Michael Schön, Jürgen Bockmann, Leda Dimou, Tobias M. Boeckers

Cell Mol Life Sci. 2022 Jul; 79(7): 371. Published online 2022 Jun 20. doi: 10.1007/s00018-022-04400-4

PMCID:: PMC9209365

Abstract Article PDF–8.0M

Select item 85521602.

Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy

Petya Bogdanova-Mihaylova, Patricia McNamara, Sarah Burton-Jones, Sinéad M Murphy

BMJ Case Rep. 2021; 14(10): e244641. Published online 2021 Oct 27. doi: 10.1136/bcr-2021-244641

PMCID:: PMC8552160

Abstract Article PDF–405K

Select item 81858343.

Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction

James A. Brunberg, Sebastien Jacquemont, Randi J. Hagerman, Elizabeth M. Berry-Kravis, Jim Grigsby, Maureen A. Leehey, Flora Tassone, W. Ted Brown, Claudia M. Greco, Paul J. Hagerman

AJNR Am J Neuroradiol. 2002 Nov; 23(10): 1757–1766.

PMCID:: PMC8185834

Abstract Article PDF–440K

Select item 55449364.

Genetic and Functional Analyses Identify DISC1 as a Novel Callosal Agenesis Candidate Gene

Nathan Osbun, Jiang Li, Mary C. O’Driscoll, Zoe Strominger, Mari Wakahiro, Eric Rider, Polina Bukshpun, Elena Boland, Cailyn H. Spurrell, Wendy Schackwitz, Len A. Pennacchio, William B. Dobyns, Graeme C.M. Black, Elliott H. Sherr

Am J Med Genet A. Author manuscript; available in PMC 2017 Aug 5.

Published in final edited form as: Am J Med Genet A. 2011 Aug; 155A(8): 1865–1876. Published online 2011 Jul 7. doi: 10.1002/ajmg.a.34081

PMCID:: PMC5544936

Abstract Article PDF–1.8M

Select item 49487705.

Repeated Closed Head Injury in Mice Results in Sustained Motor and Memory Deficits and Chronic Cellular Changes

Amanda N. Bolton Hall, Binoy Joseph, Jennifer M. Brelsfoard, Kathryn E. Saatman

PLoS One. 2016; 11(7): e0159442. Published online 2016 Jul 18. doi: 10.1371/journal.pone.0159442

PMCID:: PMC4948770

Abstract Article PDF–20M

Select item 49487446.

Novel pathologic findings in patients with Pelizaeus-Merzbacher disease

Jeremy J. Laukka, John Kamholz, Denise Bessert, Robert P. Skoff

Neurosci Lett. Author manuscript; available in PMC 2017 Aug 3.

Published in final edited form as: Neurosci Lett. 2016 Aug 3; 627: 222–232. Published online 2016 May 17. doi: 10.1016/j.neulet.2016.05.028

PMCID:: PMC4948744

Abstract Article PDF–917K

Select item 40280377.

Fragile X–Associated Tremor/Ataxia Syndrome: Influence of the FMR1 Gene on Motor Fiber Tracts in Males With Normal and Premutation Alleles

Jun Yi Wang, David Hessl, Andrea Schneider, Flora Tassone, Randi J. Hagerman, Susan M. Rivera

JAMA Neurol. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: JAMA Neurol. 2013 Aug; 70(8): 1022–1029. doi: 10.1001/jamaneurol.2013.2934

PMCID:: PMC4028037

Abstract Article PDF–689K

Select item 37115518.

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

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

J Neurosci. 2013 Jan 9; 33(2): 709–721. doi: 10.1523/JNEUROSCI.4603-12.2013

PMCID:: PMC3711551

Abstract Article PDF–3.8M

Select item 18021039.

Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome

Alexei M. C. Machado, Tony J. Simon, Vy Nguyen, Donna M. McDonald-McGinn, Elaine H. Zackai, James C. Gee

Brain Res. Author manuscript; available in PMC 2008 Feb 2.

Published in final edited form as: Brain Res. 2007 Feb 2; 1131(1): 197–210. Published online 2006 Dec 13. doi: 10.1016/j.brainres.2006.10.082

PMCID:: PMC1802103

Abstract Article PDF–745K

Select item 105103610.

Monozygotic twins discordant for Aicardi syndrome.

T Costa, W Greer, G Rysiecki, J R Buncic, P N Ray

J Med Genet. 1997 Aug; 34(8): 688–691. doi: 10.1136/jmg.34.8.688

PMCID:: PMC1051036

Summary Page Browse PDF–915K

Select item 48805911.

Morphometry of the corpus callosum in monozygotic twins discordant for schizophrenia: a magnetic resonance imaging study.

M F Casanova, R D Sanders, T E Goldberg, L B Bigelow, G Christison, E F Torrey, D R Weinberger

J Neurol Neurosurg Psychiatry. 1990 May; 53(5): 416–421. doi: 10.1136/jnnp.53.5.416

PMCID:: PMC488059

Summary Page Browse PDF–1.7M

Select item 676389312.

Changes in Cortical and Striatal Neurons Predict Behavioral and Electrophysiological Abnormalities in a Transgenic Murine Model of Huntington's Disease

Genevieve A. Laforet, Ellen Sapp, Kathryn Chase, Charmian McIntyre, Frederick M. Boyce, Mary Campbell, Beth A. Cadigan, Lori Warzecki, Danilo A. Tagle, P. Hemachandra Reddy, Carlos Cepeda, Christopher R. Calvert, Eve S. Jokel, Gloria J. Klapstein, Marjorie A. Ariano, Michael S. Levine, Marian DiFiglia, Neil Aronin

J Neurosci. 2001 Dec 1; 21(23): 9112–9123. doi: 10.1523/JNEUROSCI.21-23-09112.2001

PMCID:: PMC6763893

Abstract Article PDF–700K

Select item 313281013.

Peroxisome-Proliferator-Activated Receptor Gamma Coactivator 1 α Contributes to Dysmyelination in Experimental Models of Huntington's Disease

Zhongmin Xiang, Marta Valenza, Libin Cui, Valerio Leoni, Hyun-Kyung Jeong, Elisa Brilli, Jiangyang Zhang, Qi Peng, Wenzhen Duan, Steven A. Reeves, Elena Cattaneo, Dimitri Krainc

J Neurosci. 2011 Jun 29; 31(26): 9544–9553. doi: 10.1523/JNEUROSCI.1291-11.2011