PMC Articles for MedGen (Select 375921) - PMC

Select item 45863661.

A novel closed-body model of spinal cord injury caused by high-pressure air blasts produces extensive axonal injury and motor impairments

Nobel del Mar, Xinyu von Buttlar, Angela S. Yu, Natalie H. Guley, Anton Reiner, Marcia G. Honig

Exp Neurol. Author manuscript; available in PMC 2015 Sep 29.

Published in final edited form as: Exp Neurol. 2015 Sep; 271: 53–71. Published online 2015 May 7. doi: 10.1016/j.expneurol.2015.04.023

PMCID:: PMC4586366

Abstract Article PDF–2.3M

Select item 3791892.

Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

Eleonore Eymard-Pierre, Gaetan Lesca, Sandra Dollet, Filippo Maria Santorelli, Matteo di Capua, Enrico Bertini, Odile Boespflug-Tanguy

Am J Hum Genet. 2002 Sep; 71(3): 518–527. Published online 2002 Jul 26. doi: 10.1086/342359

PMCID:: PMC379189

Abstract Article PDF–270K

Select item 21330703.

Nervous System Defects of Ankyrin_B (−/−) Mice Suggest Functional Overlap between the Cell Adhesion Molecule L1 and 440-kD Ankyrin_Bin Premyelinated Axons

Paula Scotland, Daixing Zhou, Helene Benveniste, Vann Bennett

J Cell Biol. 1998 Nov 30; 143(5): 1305–1315. doi: 10.1083/jcb.143.5.1305

PMCID:: PMC2133070

Abstract Article PDF–1.6M

Select item 26564934.

Amyotrophic lateral sclerosis

Lokesh C Wijesekera, P Nigel Leigh

Orphanet J Rare Dis. 2009; 4: 3. Published online 2009 Feb 3. doi: 10.1186/1750-1172-4-3

PMCID:: PMC2656493

Abstract Article PDF–2.1M

Select item 27027635.

Amyotrophic Lateral Sclerosis–Plus Syndrome With TAR DNA-Binding Protein-43 Pathology

Leo F. McCluskey, Lauren B. Elman, Maria Martinez-Lage, Vivianna Van Deerlin, Wuxing Yuan, Dana Clay, Andrew Siderowf, John Q. Trojanowski

Arch Neurol. Author manuscript; available in PMC 2009 Jun 29.

Published in final edited form as: Arch Neurol. 2009 Jan; 66(1): 121–124. doi: 10.1001/archneur.66.1.121

PMCID:: PMC2702763

Abstract Article PDF–434K

Select item 27431716.

Pre-synaptic regulation of astroglial excitatory neurotransmitter transporter GLT1

Yongjie Yang, Oguz Gozen, Andrew Watkins, Ileana Lorenzini, Angelo Lepore, Yuanzheng Gao, Svetlana Vidensky, Jean Brennan, David Poulsen, Jeong Won Park, Noo Li Jeon, Michael B. Robinson, Jeffrey D. Rothstein

Neuron. Author manuscript; available in PMC 2010 Mar 26.

Published in final edited form as: Neuron. 2009 Mar 26; 61(6): 880–894. doi: 10.1016/j.neuron.2009.02.010

PMCID:: PMC2743171

Abstract Article PDF–3.4M

Select item 31340647.

Differential corticospinal tract degeneration in homozygous ‘D90A’ SOD-1 ALS and sporadic ALS

C R V Blain, S Brunton, V C Williams, A Leemans, M R Turner, P M Andersen, M Catani, B R Stanton, J Ganesalingham, D K Jones, S C R Williams, P N Leigh, A Simmons

J Neurol Neurosurg Psychiatry. 2011 Aug; 82(8): 843–849. Published online 2011 Apr 21. doi: 10.1136/jnnp.2010.236018

PMCID:: PMC3134064

Abstract Article PDF–400K

Select item 33615498.

TDP-43 Pathology in a Case of Hereditary Spastic Paraplegia with a NIPA1/SPG6 Mutation

Maria Martinez-Lage, Laura Molina-Porcel, Dana Falcone, Leo McCluskey, Virginia M.-Y. Lee, Vivianna M. Van Deerlin, John Q. Trojanowski

Acta Neuropathol. Author manuscript; available in PMC 2012 Sep 20.

Published in final edited form as: Acta Neuropathol. 2012 Aug; 124(2): 285–291. doi: 10.1007/s00401-012-0947-y

PMCID:: PMC3361549

Abstract Article PDF–1.3M

Select item 42974549.

Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

Takashi Ayaki, Hidefumi Ito, Hiroko Fukushima, Takeshi Inoue, Takayuki Kondo, Akito Ikemoto, Takeshi Asano, Akemi Shodai, Takuji Fujita, Satoshi Fukui, Hiroyuki Morino, Satoshi Nakano, Hirofumi Kusaka, Hirofumi Yamashita, Masafumi Ihara, Riki Matsumoto, Jun Kawamata, Makoto Urushitani, Hideshi Kawakami, Ryosuke Takahashi

Acta Neuropathol Commun. 2014; 2: 172. Published online 2014 Dec 10. doi: 10.1186/s40478-014-0172-0

PMCID:: PMC4297454

Abstract Article PDF–3.4M

Select item 1082924510.

Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation

Qiang Zhang, Qi Yang, Jingsi Luo, Xunzhao Zhou, Shang Yi, Shuyin Tan, Zailong Qin

BMC Med Genomics. 2024; 17: 44. Published online 2024 Jan 31. doi: 10.1186/s12920-024-01805-x

PMCID:: PMC10829245

Abstract Article PDF–1.3M

Select item 460756011.

Non-specific labeling limits the utility of Cre-Lox bred CST-YFP mice for studies of corticospinal tract regeneration

Rafer Willenberg, Oswald Steward

J Comp Neurol. Author manuscript; available in PMC 2016 Dec 15.

Published in final edited form as: J Comp Neurol. 2015 Dec 15; 523(18): 2665–2682. Published online 2015 Aug 10. doi: 10.1002/cne.23809

PMCID:: PMC4607560

Abstract Article PDF–3.8M

Select item 503901412.

A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration

Masataka Nakamura, Kevin F. Bieniek, Wen-Lang Lin, Neill R. Graff-Radford, Melissa E. Murray, Monica Castanedes-Casey, Pamela Desaro, Matthew C. Baker, Nicola J. Rutherford, Janice Robertson, Rosa Rademakers, Dennis W. Dickson, Kevin B. Boylan

Acta Neuropathol. Author manuscript; available in PMC 2016 Sep 27.

Published in final edited form as: Acta Neuropathol. 2015 Jul; 130(1): 145–157. Published online 2015 Apr 28. doi: 10.1007/s00401-015-1431-2

PMCID:: PMC5039014

Abstract Article PDF–1.8M

Select item 534961713.

Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers

Suzee E. Lee, Ana C. Sias, Maria Luisa Mandelli, Jesse A. Brown, Alainna B. Brown, Anna M. Khazenzon, Anna A. Vidovszky, Theodore P. Zanto, Anna M. Karydas, Mochtar Pribadi, Deepika Dokuru, Giovanni Coppola, Dan H. Geschwind, Rosa Rademakers, Maria Luisa Gorno-Tempini, Howard J. Rosen, Bruce L. Miller, William W. Seeley

Neuroimage Clin. 2017; 14: 286–297. Published online 2016 Dec 10. doi: 10.1016/j.nicl.2016.12.006

PMCID:: PMC5349617

Abstract Article PDF–1.2M

Select item 802906914.

Globular Glial Mixed Four Repeat Tau and TDP‐43 Proteinopathy with Motor Neuron Disease and Frontotemporal Dementia

Ryoko Takeuchi, Yasuko Toyoshima, Mari Tada, Hidetomo Tanaka, Hiroshi Shimizu, Atsushi Shiga, Takeshi Miura, Kenju Aoki, Akane Aikawa, Shin Ishizawa, Takeshi Ikeuchi, Masatoyo Nishizawa, Akiyoshi Kakita, Hitoshi Takahashi

Brain Pathol. 2016 Jan; 26(1): 82–94. Published online 2015 May 19. doi: 10.1111/bpa.12262

PMCID:: PMC8029069

Abstract Article PDF–1.8M

Select item 804389715.

Enrique Nogueira, Juana Alarcón, Carmen Garma, Cecilia Paredes

Neurol Sci. 2021; 42(5): 2091–2094. Published online 2021 Jan 7. doi: 10.1007/s10072-020-04899-0

PMCID:: PMC8043897

Abstract Article PDF–651K

Select item 980747916.

Widespread CNS pathology in amyotrophic lateral sclerosis homozygous for the D90A SOD1 mutation

Karin M. Forsberg, Karin S. Graffmo, Erica Stenvall, Naima Tabikh, Stefan L. Marklund, Thomas Brännström, Peter M. Andersen

Acta Neuropathol. 2023; 145(1): 13–28. Published online 2022 Nov 16. doi: 10.1007/s00401-022-02519-z

PMCID:: PMC9807479

Abstract Article PDF–2.7M

Select item 1032177517.

Traumatic axonopathy in spinal tracts after impact acceleration head injury: Ultrastructural observations and evidence of SARM1-dependent axonal degeneration

Athanasios S. Alexandris, Youngrim Lee, Mohamed Lehar, Zahra Alam, Pranav Samineni, Sunil J. Tripathi, Jiwon Ryu, Vassilis E. Koliatsos

Exp Neurol. Author manuscript; available in PMC 2023 Jul 5.

Published in final edited form as: Exp Neurol. 2023 Jan; 359: 114252. Published online 2022 Oct 13. doi: 10.1016/j.expneurol.2022.114252

PMCID:: PMC10321775

Abstract Article PDF–7.2M

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