PMC Articles for MedGen (Select 334226) - PMC

Farid Radmanesh, Ahmet Okay Caglayan, Jennifer L. Silhavy, Cahide Yilmaz, Vincent Cantagrel, Tarek Omar, Başak Rosti, Hande Kaymakcalan, Stacey Gabriel, Mingfeng Li, Nenad Šestan, Kaya Bilguvar, William B. Dobyns, Maha S. Zaki, Murat Gunel, Joseph G. Gleeson

Am J Hum Genet. 2013 Mar 7; 92(3): 468–474. doi: 10.1016/j.ajhg.2013.02.005

PMCID:: PMC3591846

Abstract Article PDF–991K

Select item 67379055.

Laminin α2 controls mouse and human stem cell behaviour during midbrain dopaminergic neuron development

Maqsood Ahmed, Leandro N. Marziali, Ernest Arenas, M. Laura Feltri, Charles ffrench-Constant

Development. 2019 Aug 15; 146(16): dev172668. Published online 2019 Aug 29. doi: 10.1242/dev.172668

PMCID:: PMC6737905

Abstract Article

Select item 63690136.

Aldosterone-sensitive HSD2 neurons in mice

Silvia Gasparini, Jon M. Resch, Sowmya V. Narayan, Lila Peltekian, Gabrielle N. Iverson, Samyukta Karthik, Joel C. Geerling

Brain Struct Funct. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Brain Struct Funct. 2019 Jan; 224(1): 387–417. Published online 2018 Oct 20. doi: 10.1007/s00429-018-1778-y

PMCID:: PMC6369013

Abstract Article PDF–3.8M

Select item 42222687.

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Catherine Fallet-Bianco, Annie Laquerrière, Karine Poirier, Ferechte Razavi, Fabien Guimiot, Patricia Dias, Laurence Loeuillet, Karine Lascelles, Cherif Beldjord, Nathalie Carion, Aurélie Toussaint, Nicole Revencu, Marie-Claude Addor, Benoit Lhermitte, Marie Gonzales, Jelena Martinovich, Bettina Bessieres, Maryse Marcy-Bonnière, Frédérique Jossic, Pascale Marcorelles, Philippe Loget, Jamel Chelly, Nadia Bahi-Buisson

Acta Neuropathol Commun. 2014; 2: 69. Published online 2014 Jul 25. doi: 10.1186/2051-5960-2-69

PMCID:: PMC4222268

Abstract Article PDF–2.1M

Select item 42980338.

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

J Helen Cross, Ruchi Arora, Rolf A Heckemann, Roxana Gunny, Kling Chong, Lucinda Carr, Torsten Baldeweg, Ann-Marie Differ, Nicholas Lench, Sophie Varadkar, Tony Sirimanna, Evangeline Wassmer, Sally A Hulton, Milos Ognjanovic, Venkateswaran Ramesh, Sally Feather, Robert Kleta, Alexander Hammers, Detlef Bockenhauer

Dev Med Child Neurol. 2013 Sep; 55(9): 846–856. Published online 2013 Mar 14. doi: 10.1111/dmcn.12171

PMCID:: PMC4298033

Abstract Article PDF–728K

Select item 25622699.

Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome

Sean Dumars, Caroline Andrews, Wai-Man Chan, Elizabeth C. Engle, Joseph L. Demer

J AAPOS. Author manuscript; available in PMC 2009 Aug 1.

Published in final edited form as: J AAPOS. 2008 Aug; 12(4): 381–389. Published online 2008 May 2. doi: 10.1016/j.jaapos.2008.01.018

PMCID:: PMC2562269

Abstract Article PDF–1.9M

Select item 447052310.

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations

Nichola Z. Lax, Charlotte L. Alston, Katherine Schon, Soo-Mi Park, Deepa Krishnakumar, Langping He, Gavin Falkous, Amanda Ogilvy-Stuart, Christoph Lees, Rosalind H. King, Iain P. Hargreaves, Garry K. Brown, Robert McFarland, Andrew F. Dean, Robert W. Taylor

J Neuropathol Exp Neurol. 2015 Jul; 74(7): 688–703. Published online 2015 Jun 16. doi: 10.1097/NEN.0000000000000209

PMCID:: PMC4470523

Abstract Article PDF–36M

Select item 461470111.

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

Kristin D. Kernohan, Martine Tétreault, Urszula Liwak-Muir, Michael T. Geraghty, Wen Qin, Sunita Venkateswaran, Jorge Davila, Care4Rare Canada Consortium, Martin Holcik, Jacek Majewski, Julie Richer, Kym M. Boycott

Hum Mol Genet. 2015 Nov 15; 24(22): 6293–6300. Published online 2015 Aug 24. doi: 10.1093/hmg/ddv337

PMCID:: PMC4614701

Abstract Article PDF–357K

Select item 628842312.

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

William B. Dobyns, Kimberly A. Aldinger, Gisele E. Ishak, Ghayda M. Mirzaa, Andrew E. Timms, Megan E. Grout, Marjolein H.G. Dremmen, Rachel Schot, Laura Vandervore, Marjon A. van Slegtenhorst, Martina Wilke, Esmee Kasteleijn, Arthur S. Lee, Brenda J. Barry, Katherine R. Chao, Krzysztof Szczałuba, Joyce Kobori, Andrea Hanson-Kahn, Jonathan A. Bernstein, Lucinda Carr, Felice D’Arco, Kaori Miyana, Tetsuya Okazaki, Yoshiaki Saito, Masayuki Sasaki, Soma Das, Marsha M. Wheeler, Michael J. Bamshad, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Elizabeth C. Engle, Frans W. Verheijen, Dan Doherty, Grazia M.S. Mancini

Am J Hum Genet. 2018 Dec 6; 103(6): 1009–1021. Published online 2018 Nov 21. doi: 10.1016/j.ajhg.2018.10.019

PMCID:: PMC6288423

Abstract Article PDF–3.0M

Select item 457571813.

Neuroimaging Features of San Luis Valley Syndrome

Matthew T. Whitehead, Bonmyong Lee

Case Rep Radiol. 2015; 2015: 748413. Published online 2015 Sep 6. doi: 10.1155/2015/748413

PMCID:: PMC4575718

Abstract Article PDF–2.5M

Select item 636488414.

Quantifying the contrast of the human locus coeruleus in vivo at 7 Tesla MRI

Klodiana-Daphne Tona, Matthias J. P. van Osch, Sander Nieuwenhuis, Max C. Keuken

PLoS One. 2019; 14(2): e0209842. Published online 2019 Feb 6. doi: 10.1371/journal.pone.0209842

PMCID:: PMC6364884

Abstract Article PDF–2.2M

Select item 207860215.

Neurochemical organization of the nucleus paramedianus dorsalis in the human

Joan S. Baizer, James F. Baker, Kristin Haas, Raquel Lima

Brain Res. Author manuscript; available in PMC 2008 Oct 24.

Published in final edited form as: Brain Res. 2007 Oct 24; 1176: 45–52. Published online 2007 Aug 14. doi: 10.1016/j.brainres.2007.08.017

PMCID:: PMC2078602

Abstract Article PDF–4.5M

Select item 564432016.

Horizontal gaze palsy with progressive scoliosis – A case report

P Shalini, Virna M Shah

Indian J Radiol Imaging. 2017 Jul-Sep; 27(3): 290–292. doi: 10.4103/ijri.IJRI_368_16

PMCID:: PMC5644320

Abstract Article PDF–621K

Select item 549111617.

Reconstructive endovascular treatment of vertebral artery dissecting aneurysms with the Low-profile Visualized Intraluminal Support (LVIS) device

Chuan-Chuan Wang, Yi-Bin Fang, Ping Zhang, Xuan Zhu, Bo Hong, Yi Xu, Jian-Min Liu, Qing-Hai Huang

PLoS One. 2017; 12(6): e0180079. Published online 2017 Jun 29. doi: 10.1371/journal.pone.0180079

PMCID:: PMC5491116

Abstract Article PDF–14M

Select item 643995718.

Association of Severe Hydrocephalus With Congenital Zika Syndrome

Vanessa van der Linden, Natacha Calheiros de Lima Petribu, Andre Pessoa, Igor Faquini, Alex R. Paciorkowski, Hélio van der Linden, Jr, Laura Silveira-Moriyama, Marli Tenório Cordeiro, Adriano Nassri Hazin, A. James Barkovich, Charles Raybaud, Marilia de Brito Abath, Erlane Ribeiro, Carlos Eduardo Barros Jucá, Maria de Fátima Viana Vasco Aragão, Patrícia Teresa Coelho Travassos, Patrícia Jungmann

JAMA Neurol. 2019 Feb; 76(2): 203–210. Published online 2018 Nov 19. doi: 10.1001/jamaneurol.2018.3553

PMCID:: PMC6439957

Abstract Article

Select item 425559819.

Pedunculopontine Nucleus Stimulation: Where are We Now and What Needs to be Done to Move the Field Forward?

Hokuto Morita, Chris J. Hass, Elena Moro, Atchar Sudhyadhom, Rajeev Kumar, Michael S. Okun

Front Neurol. 2014; 5: 243. Prepublished online 2014 Jul 1. Published online 2014 Dec 4. doi: 10.3389/fneur.2014.00243

PMCID:: PMC4255598

Abstract Article PDF–1.0M

Select item 395926720.

Pontine malformation, undecussated pyramidal tracts and regional polymicrogyria: a new syndrome

Kaori Irahara, Yoshiaki Saito, Kenji Sugai, Eiji Nakagawa, Takashi Saito, Hirofumi Komaki, Yasuhiro Nakata, Noriko Sato, Kazumi Baba, Toshiyuki Yamamoto, Wai-Man Chan, Caroline Andrews, Elizabeth C Engle, Masayuki Sasaki

Pediatr Neurol. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Pediatr Neurol. 2014 Apr; 50(4): 384–388. Published online 2013 Dec 17. doi: 10.1016/j.pediatrneurol.2013.12.013

PMCID:: PMC3959267

Abstract Article PDF–4.7M

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