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Items: 1 to 20 of 283

1.
Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Stephen Ashwal, David Michelson, Lauren Plawner, William B. Dobyns
Neurology. 2009 Sep 15; 73(11): 887–897. doi: 10.1212/WNL.0b013e3181b783f7
PMCID:
PMC2744281
AbstractArticlePDF–1.9M
2.
Effect of storage time on gene expression data acquired from unfrozen archived newborn blood spots
Nhan T. Ho, Julia V. Busik, James H. Resau, Nigel Paneth, Sok Kean Khoo
Mol Genet Metab. Author manuscript; available in PMC 2017 Nov 1.
Published in final edited form as: Mol Genet Metab. 2016 Nov; 119(3): 207–213. Published online 2016 Aug 18. doi: 10.1016/j.ymgme.2016.08.001
PMCID:
PMC5083152
AbstractArticlePDF–714K
3.
Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation
Dietmar R. Thal, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle, Matthis Synofzik
Int J Mol Sci. 2015 Oct; 16(10): 25050–25066. Published online 2015 Oct 21. doi: 10.3390/ijms161025050
PMCID:
PMC4632789
AbstractArticlePDF–7.6M
4.
Joubert syndrome labeled as hypotonic cerebral palsy
Lubna H. Dekair, Hussein Kamel, Haitham O. El-Bashir
Neurosciences (Riyadh) 2014 Jul; 19(3): 233–235.
PMCID:
PMC4727659
AbstractArticlePDF–214K
5.
Systemic dendrimer-drug treatment of ischemia-induced neonatal white matter injury
Elizabeth Nance, Michael Porambo, Fan Zhang, Manoj K. Mishra, Markus Buelow, Rachel Getzenberg, Michael Johnston, Kannan Rangaramanujam, Ali Fatemi, Sujatha Kannan
J Control Release. Author manuscript; available in PMC 2016 Sep 28.
Published in final edited form as: J Control Release. 2015 Sep 28; 214: 112–120. Published online 2015 Jul 13. doi: 10.1016/j.jconrel.2015.07.009
PMCID:
PMC4732874
AbstractArticlePDF–2.8M
6.
Vasculitis, cerebral infarction and persistent Bartonella henselae infection in a child
Nandhakumar Balakrishnan, Marna Ericson, Ricardo Maggi, Edward B. Breitschwerdt
Parasit Vectors. 2016; 9: 254. Published online 2016 May 10. doi: 10.1186/s13071-016-1547-9
PMCID:
PMC4862072
AbstractArticlePDF–1.0M
7.
Phenotypic insights into ADCY5‐associated disease
Florence C.F. Chang, Ana Westenberger, Russell C. Dale, Martin Smith, Hardev S. Pall, Belen Perez‐Dueñas, Padraic Grattan‐Smith, Robert A. Ouvrier, Neil Mahant, Bernadette C. Hanna, Matthew Hunter, John A. Lawson, Christoph Max, Rani Sachdev, Esther Meyer, Dennis Crimmins, Donald Pryor, John G.L. Morris, Alex Münchau, Detelina Grozeva, Keren J. Carss, Lucy Raymond, Manju A. Kurian, Christine Klein, Victor S.C. Fung
Mov Disord. 2016 Jul; 31(7): 1033–1040. Published online 2016 Apr 8. doi: 10.1002/mds.26598
PMCID:
PMC4950003
AbstractArticlePDF–366K
8.
Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome
Encarna Pucheta-Martinez, Nicola D’Amelio, Moreno Lelli, Jorge L. Martinez-Torrecuadrada, Marius Sudol, Giorgio Saladino, Francesco Luigi Gervasio
Sci Rep. 2016; 6: 30293. Published online 2016 Jul 26. doi: 10.1038/srep30293
PMCID:
PMC4960638
AbstractArticlePDF–1.1M
9.
Neurodevelopmental Disorders or Early Death in Siblings of Children With Cerebral Palsy
Mette C. Tollånes, Allen J. Wilcox, Camilla Stoltenberg, Rolv T. Lie, Dag Moster
Pediatrics. 2016 Aug; 138(2): e20160269. doi: 10.1542/peds.2016-0269
PMCID:
PMC4960730
AbstractArticlePDF–543K
10.
The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report
Ali Al Kaissi, Jochen Hofstaetter, Gerlinde Weigel, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Medicine (Baltimore) 2016 Aug; 95(32): e4561. Published online 2016 Aug 12. doi: 10.1097/MD.0000000000004561
PMCID:
PMC4985337
AbstractArticlePDF–793K
11.
Decreased Yes-Associated Protein-1 (YAP1) Expression in Pediatric Hearts with Ventricular Septal Defects
Lincai Ye, Meng Yin, Yu Xia, Chuan Jiang, Haifa Hong, Jinfen Liu
PLoS One. 2015; 10(10): e0139712. Published online 2015 Oct 1. doi: 10.1371/journal.pone.0139712
PMCID:
PMC4591351
AbstractArticlePDF–3.3M
12.
Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities
Sumaiya Nazeen, Nathan P. Palmer, Bonnie Berger, Isaac S. Kohane
Genome Biol. 2016; 17: 228. Published online 2016 Nov 14. doi: 10.1186/s13059-016-1084-z
PMCID:
PMC5108086
AbstractArticlePDF–2.1M
13.
Reduced skeletal muscle satellite cell number alters muscle morphology after chronic stretch but allows limited serial sarcomere addition
Matthew C. Kinney, Sudarshan Dayanidhi, Peter B. Dykstra, John J. McCarthy, Charlotte A. Peterson, Richard L. Lieber
Muscle Nerve. Author manuscript; available in PMC 2018 Mar 1.
Published in final edited form as: Muscle Nerve. 2017 Mar; 55(3): 384–392. Published online 2016 Nov 28. doi: 10.1002/mus.25227
PMCID:
PMC5183525
AbstractArticlePDF–1.1M
14.
Mutations in SLC5A6 associated with brain, immune, bone and intestinal dysfunction in a young child
Veedamali S. Subramanian, Alexandru R. Constantinescu, Paul J. Benke, Hamid M. Said
Hum Genet. Author manuscript; available in PMC 2018 Feb 1.
Published in final edited form as: Hum Genet. 2017 Feb; 136(2): 253–261. Published online 2016 Nov 30. doi: 10.1007/s00439-016-1751-x
PMCID:
PMC5263180
AbstractArticlePDF–1.6M
15.
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia
Helen M. Cooper, Yang Yang, Emil Ylikallio, Rafil Khairullin, Rosa Woldegebriel, Kai-Lan Lin, Liliya Euro, Eino Palin, Alexander Wolf, Ras Trokovic, Pirjo Isohanni, Seppo Kaakkola, Mari Auranen, Tuula Lönnqvist, Sjoerd Wanrooij, Henna Tyynismaa
Hum Mol Genet. 2017 Apr 15; 26(8): 1432–1443. Published online 2017 Jan 31. doi: 10.1093/hmg/ddx042
PMCID:
PMC5393146
AbstractArticlePDF–910K
16.
Systemic activation of Toll-like receptor 2 suppresses mitochondrial respiration and exacerbates hypoxic–ischemic injury in the developing brain
Amin Mottahedin, Pernilla Svedin, Syam Nair, Carl-Johan Mohn, Xiaoyang Wang, Henrik Hagberg, Joakim Ek, Carina Mallard
J Cereb Blood Flow Metab. 2017 Apr; 37(4): 1192–1198. Published online 2017 Jan 1. doi: 10.1177/0271678X17691292
PMCID:
PMC5453473
AbstractArticlePDF–266K
17.
A brain region-specific neural pathway regulating germinal matrix angiogenesis
Shang Ma, Devi Santhosh, T Peeyush Kumar, Zhen Huang
Dev Cell. Author manuscript; available in PMC 2018 May 22.
Published in final edited form as: Dev Cell. 2017 May 22; 41(4): 366–381.e4. doi: 10.1016/j.devcel.2017.04.014
PMCID:
PMC5492999
AbstractArticlePDF–2.8M
18.
Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy
Naomi Kouri, Owen A. Ross, Beth Dombroski, Curtis S. Younkin, Daniel J. Serie, Alexandra Soto-Ortolaza, Matthew Baker, Ni Cole A. Finch, Hyejin Yoon, Jungsu Kim, Shinsuke Fujioka, Catriona A. McLean, Bernardino Ghetti, Salvatore Spina, Laura B. Cantwell, Martin R. Farlow, Jordan Grafman, Edward D. Huey, Mi Ryung Han, Sherry Beecher, Evan T. Geller, Hans A. Kretzschmar, Sigrun Roeber, Marla Gearing, Jorge L. Juncos, Jean Paul G. Vonsattel, Vivianna M. Van Deerlin, Murray Grossman, Howard I. Hurtig, Rachel G. Gross, Steven E. Arnold, John Q. Trojanowski, Virginia M. Lee, Gregor K. Wenning, Charles L. White, Günter U. Höglinger, Ulrich Müller, Bernie Devlin, Lawrence I. Golbe, Julia Crook, Joseph E. Parisi, Bradley F. Boeve, Keith A. Josephs, Zbigniew K. Wszolek, Ryan J. Uitti, Neill R. Graff-Radford, Irene Litvan, Steven G. Younkin, Li-San Wang, Nilüfer Ertekin-Taner, Rosa Rademakers, Hakon Hakonarsen, Gerard D. Schellenberg, Dennis W. Dickson
Nat Commun. 2015; 6: 7247. Published online 2015 Jun 16. doi: 10.1038/ncomms8247
PMCID:
PMC4469997
AbstractArticlePDF–712K
19.
A Diagnostic Approach for Cerebral Palsy in the Genomic Era
Ryan W. Lee, Andrea Poretti, Julie S. Cohen, Eric Levey, Hilary Gwynn, Michael V. Johnston, Alexander H. Hoon, Ali Fatemi
Neuromolecular Med. Author manuscript; available in PMC 2015 Dec 1.
Published in final edited form as: Neuromolecular Med. 2014 Dec; 16(4): 821–844. Published online 2014 Oct 4. doi: 10.1007/s12017-014-8331-9
PMCID:
PMC4229412
AbstractArticlePDF–1.0M
20.
Pathophysiology of Muscle Contractures in Cerebral Palsy
Margie A. Mathewson, Richard L. Lieber
Phys Med Rehabil Clin N Am. Author manuscript; available in PMC 2016 Feb 1.
Published in final edited form as: Phys Med Rehabil Clin N Am. 2015 Feb; 26(1): 57–67. doi: 10.1016/j.pmr.2014.09.005
PMCID:
PMC4258234
ArticlePDF–1.9M

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