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Items: 1 to 20 of 500

1.
Effect of foot–floor friction on the external moment about the body center of mass during shuffling gait: a pilot study
Takeshi Yamaguchi, Kei Shibata, Hiromi Wada, Hiroshi Kakehi, Kazuo Hokkirigawa
Sci Rep. 2021; 11: 12133. Published online 2021 Jun 9. doi: 10.1038/s41598-021-91683-5
PMCID:
PMC8190157
AbstractArticlePDF–1.8M
2.
MASA syndrome: new clinical features and linkage analysis using DNA probes.
C Schrander-Stumpel, E Legius, J P Fryns, J J Cassiman
J Med Genet. 1990 Nov; 27(11): 688–692. doi: 10.1136/jmg.27.11.688
PMCID:
PMC1017259
SummaryPage BrowsePDF–809K
3.
PRKN基因合并APOB基因突变的早发型帕金森病1例
邴 诗佳, 易 霞, 唐 湘祁
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2024 Apr 28; 49(4): 637–642. Chinese. doi: 10.11817/j.issn.1672-7347.2024.230438
PMCID:
PMC11255197
AbstractArticlePDF–1.3M
4.
The role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development
Yukiko Nakamura, Suni Lee, Candace L. Haddox, Eli J. Weaver, Vance P. Lemmon
J Comp Neurol. Author manuscript; available in PMC 2011 Aug 19.
Published in final edited form as: J Comp Neurol. 2010 Apr 1; 518(7): 1113–1132. doi: 10.1002/cne.22267
PMCID:
PMC3158433
AbstractArticlePDF–3.2M
5.
Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury
Haoyu Jiang, Anna O. Giarratana, Thomas Theis, Vini Nagaraj, Xiaofeng Zhou, Smita Thakker-Varia, Melitta Schachner, Janet Alder
Int J Mol Sci. 2024 Mar; 25(5): 3043. Published online 2024 Mar 6. doi: 10.3390/ijms25053043
PMCID:
PMC10932301
AbstractArticlePDF–3.2M
6.
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.
M Jouet, A Moncla, J Paterson, C McKeown, A Fryer, N Carpenter, E Holmberg, C Wadelius, S Kenwrick
Am J Hum Genet. 1995 Jun; 56(6): 1304–1314.
PMCID:
PMC1801103
SummaryPage BrowsePDF–2.2M
7.
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
Y Z Du, C Dickerson, A S Aylsworth, C E Schwartz
J Med Genet. 1998 Jun; 35(6): 456–462. doi: 10.1136/jmg.35.6.456
PMCID:
PMC1051338
SummaryPage BrowsePDF–1.7M
8.
Genetic basis of motoric cognitive risk syndrome in the Health and Retirement Study
Sanish Sathyan, Tao Wang, Emmeline Ayers, Joe Verghese
Neurology. 2019 Mar 26; 92(13): e1427–e1434. doi: 10.1212/WNL.0000000000007141
PMCID:
PMC6453764
AbstractArticlePDF–123K
9.
Dopamine D2 Long Receptor-Deficient Mice Display Alterations in Striatum-Dependent Functions
Yanyan Wang, Rong Xu, Toshikuni Sasaoka, Susumu Tonegawa, Mei-Ping Kung, Emma-Betty Sankoorikal
J Neurosci. 2000 Nov 15; 20(22): 8305–8314. doi: 10.1523/JNEUROSCI.20-22-08305.2000
PMCID:
PMC6773184
AbstractArticlePDF–258K
10.
Abnormal GABAA Receptor-Mediated Currents in Dorsal Root Ganglion Neurons Isolated from Na–K–2Cl Cotransporter Null Mice
Ki-Wug Sung, Michael Kirby, Michael P. McDonald, David M. Lovinger, Eric Delpire
J Neurosci. 2000 Oct 15; 20(20): 7531–7538. doi: 10.1523/JNEUROSCI.20-20-07531.2000
PMCID:
PMC6772871
AbstractArticlePDF–226K
11.
Loss of the Major GABAA Receptor Subtype in the Brain Is Not Lethal in Mice
Cyrille Sur, Keith A. Wafford, David S. Reynolds, Karen L. Hadingham, Frances Bromidge, Alison Macaulay, Neil Collinson, Gillian O'Meara, Owain Howell, Richard Newman, Janice Myers, John R. Atack, Gerard R. Dawson, Ruth M. McKernan, Paul J. Whiting, Thomas W. Rosahl
J Neurosci. 2001 May 15; 21(10): 3409–3418. doi: 10.1523/JNEUROSCI.21-10-03409.2001
PMCID:
PMC6762474
AbstractArticlePDF–687K
12.
Polyglutamine-Expanded Ataxin-7 Promotes Non-Cell-Autonomous Purkinje Cell Degeneration and Displays Proteolytic Cleavage in Ataxic Transgenic Mice
Gwenn A. Garden, Randell T. Libby, Ying-Hui Fu, Yoshito Kinoshita, Jing Huang, Daniel E. Possin, Annette C. Smith, Refugio A. Martinez, Gabriel C. Fine, Sara K. Grote, Carol B. Ware, David D. Einum, Richard S. Morrison, Louis J. Ptacek, Bryce L. Sopher, Albert R. La Spada
J Neurosci. 2002 Jun 15; 22(12): 4897–4905. doi: 10.1523/JNEUROSCI.22-12-04897.2002
PMCID:
PMC6757746
AbstractArticlePDF–988K
13.
Unusual case of Juvenile Tay-Sachs disease
Huma A Cheema, Nadia Waheed, Anjum Saeed
BMJ Case Rep. 2019; 12(9): e230140. Published online 2019 Sep 12. doi: 10.1136/bcr-2019-230140
PMCID:
PMC6747916
AbstractArticlePDF–139K
14.
Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation
Nester Mitchell, Gaynel A. LaTouche, Beverly Nelson, Karla P. Figueroa, Ruth H. Walker, Andrew K. Sobering
Tremor Other Hyperkinet Mov (N Y) 2019; 9: 10.7916/tohm.v0.704. Published online 2019 Sep 13. doi: 10.7916/tohm.v0.704
PMCID:
PMC6744815
AbstractArticlePDF–1.1M
15.
A Novel Role of Lactosylceramide in the Regulation of Lipopolysaccharide/Interferon-γ-Mediated Inducible Nitric Oxide Synthase Gene Expression: Implications for Neuroinflammatory Diseases
Ravinder Pannu, Je-Seong Won, Mushfiquddin Khan, Avtar K. Singh, Inderjit Singh
J Neurosci. 2004 Jun 30; 24(26): 5942–5954. doi: 10.1523/JNEUROSCI.1271-04.2004
PMCID:
PMC6729229
AbstractArticlePDF–900K
16.
GABA Transporter Deficiency Causes Tremor, Ataxia, Nervousness, and Increased GABA-Induced Tonic Conductance in Cerebellum
Chi-Sung Chiu, Stephen Brickley, Kimmo Jensen, Amber Southwell, Sheri Mckinney, Stuart Cull-Candy, Istvan Mody, Henry A. Lester
J Neurosci. 2005 Mar 23; 25(12): 3234–3245. doi: 10.1523/JNEUROSCI.3364-04.2005
PMCID:
PMC6725086
AbstractArticlePDF–659K
17.
Targeted Deletion of a Single Sca8 Ataxia Locus Allele in Mice Causes Abnormal Gait, Progressive Loss of Motor Coordination, and Purkinje Cell Dendritic Deficits
Yungui He, Tao Zu, Kellie A. Benzow, Harry T. Orr, H. Brent Clark, Michael D. Koob
J Neurosci. 2006 Sep 27; 26(39): 9975–9982. doi: 10.1523/JNEUROSCI.2595-06.2006
PMCID:
PMC6674467
AbstractArticlePDF–500K
18.
A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus
Miaomiao Wang, Xinqing Zhang
Neurogenetics. 2019; 20(3): 155–160. Published online 2019 May 16. doi: 10.1007/s10048-019-00579-0
PMCID:
PMC6647879
AbstractArticlePDF–631K
19.
A Novel BACHD Transgenic Rat Exhibits Characteristic Neuropathological Features of Huntington Disease
Libo Yu-Taeger, Elisabeth Petrasch-Parwez, Alexander P. Osmand, Adriana Redensek, Silke Metzger, Laura E. Clemens, Larry Park, David Howland, Carsten Calaminus, Xiaofeng Gu, Bernd Pichler, X. William Yang, Olaf Riess, Huu Phuc Nguyen
J Neurosci. 2012 Oct 31; 32(44): 15426–15438. doi: 10.1523/JNEUROSCI.1148-12.2012
PMCID:
PMC6621569
AbstractArticlePDF–3.0M
20.
Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6
Lynn Rochester, Brook Galna, Sue Lord, Dadirayi Mhiripiri, Gail Eglon, Patrick F Chinnery
Mov Disord. Author manuscript; available in PMC 2019 Jun 5.
Published in final edited form as: Mov Disord. 2014 Feb 1; 29(2): 252–255. Published online 2013 Dec 3. doi: 10.1002/mds.25706
PMCID:
PMC6551218
AbstractArticlePDF–288K

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