U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 331

1.
Assessment of Affect Lability: Psychometric Properties of the ALS-18
Anna Contardi, Claudio Imperatori, Italia Amati, Michela Balsamo, Marco Innamorati
Front Psychol. 2018; 9: 427. Published online 2018 Mar 29. doi: 10.3389/fpsyg.2018.00427
PMCID:
PMC5885065
AbstractArticlePDF–889K
2.
Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree
Teodor Angelov, Teodora Chamova, Slavena Atemin, Tihomir Todorov, Slavko Ormandzhiev, Ivan Tourtourikov, Albena Todorova, David Devos, Ivailo Tournev
Front Neurol. 2023; 14: 1094234. Published online 2023 Feb 9. doi: 10.3389/fneur.2023.1094234
PMCID:
PMC9947785
AbstractArticlePDF–354K
3.
Psychometric properties of a short form of the Affective Lability Scale (ALS-18)
Amy E. Look, Janine D. Flory, Philip D. Harvey, Larry J. Siever
Pers Individ Dif. Author manuscript; available in PMC 2011 Aug 1.
Published in final edited form as: Pers Individ Dif. 2010 Aug 1; 49(3): 187–191. doi: 10.1016/j.paid.2010.03.030
PMCID:
PMC2893358
AbstractArticlePDF–320K
4.
Familial Amyotrophic Lateral Sclerosis-linked Mutations in Profilin 1 Exacerbate TDP-43-induced Degeneration in the Retina of Drosophila melanogaster through an Increase in the Cytoplasmic Localization of TDP-43
Koji Matsukawa, Tadafumi Hashimoto, Taisei Matsumoto, Ryoko Ihara, Takahiro Chihara, Masayuki Miura, Tomoko Wakabayashi, Takeshi Iwatsubo
J Biol Chem. 2016 Nov 4; 291(45): 23464–23476. Published online 2016 Sep 15. doi: 10.1074/jbc.M116.729152
PMCID:
PMC5095402
AbstractArticlePDF–3.7M
5.
Ventral Attention Network Correlates With High Traits of Emotion Dysregulation in Community Women — A Resting-State EEG Study
Francesca Fusina, Marco Marino, Chiara Spironelli, Alessandro Angrilli
Front Hum Neurosci. 2022; 16: 895034. Published online 2022 May 26. doi: 10.3389/fnhum.2022.895034
PMCID:
PMC9205637
AbstractArticlePDF–2.3M
6.
Affective Instability, Depression, and Anxiety Symptoms in a Community Sample of Pregnant and Postpartum Women: A Cross-Sectional Study
Hua Li
Int J Environ Res Public Health. 2022 Mar; 19(6): 3171. Published online 2022 Mar 8. doi: 10.3390/ijerph19063171
PMCID:
PMC8951286
AbstractArticlePDF–554K
7.
Disease progression in C9orf72 mutation carriers
Mary K. Floeter, Bryan J. Traynor, Jennifer Farren, Laura E. Braun, Michael Tierney, Edythe A. Wiggs, Tianxia Wu
Neurology. 2017 Jul 18; 89(3): 234–241. doi: 10.1212/WNL.0000000000004115
PMCID:
PMC5513817
AbstractArticlePDF–412K
8.
Longitudinal evaluation of cerebral and spinal cord damage in Amyotrophic Lateral Sclerosis
Milena de Albuquerque, Lucas Melo T Branco, Thiago Junqueira R. Rezende, Helen Maia Tavares de Andrade, Anamarli Nucci, Marcondes Cavalcante França Jr
Neuroimage Clin. 2017; 14: 269–276. Published online 2017 Jan 24. doi: 10.1016/j.nicl.2017.01.024
PMCID:
PMC5294732
AbstractArticlePDF–1.0M
9.
ATXN2 trinucleotide repeat length correlates with risk of ALS
William Sproviero, Aleksey Shatunov, Daniel Stahl, Maryam Shoai, Wouter van Rheenen, Ashley R. Jones, Safa Al-Sarraj, Peter M. Andersen, Nancy M. Bonini, Francesca L. Conforti, Philip Van Damme, Hussein Daoud, Maria Del Mar Amador, Isabella Fogh, Monica Forzan, Ben Gaastra, Cinzia Gellera, Aaron D. Gitler, John Hardy, Pietro Fratta, Vincenzo La Bella, Isabelle Le Ber, Tim Van Langenhove, Serena Lattante, Yi-Chung Lee, Andrea Malaspina, Vincent Meininger, Stéphanie Millecamps, Richard Orrell, Rosa Rademakers, Wim Robberecht, Guy Rouleau, Owen A. Ross, Francois Salachas, Katie Sidle, Bradley N. Smith, Bing-Wen Soong, Gianni Sorarù, Giovanni Stevanin, Edor Kabashi, Claire Troakes, Christine van Broeckhoven, Jan H. Veldink, Leonard H. van den Berg, Christopher E. Shaw, John F. Powell, Ammar Al-Chalabi
Neurobiol Aging. 2017 Mar; 51: 178.e1–178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010
PMCID:
PMC5302215
AbstractArticle
10.
Profilin1 biology and its mutation, actin(g) in disease
Duah Alkam, Ezra Z. Feldman, Awantika Singh, Mahmoud Kiaei
Cell Mol Life Sci. 2017 Mar; 74(6): 967–981. Published online 2016 Sep 26. doi: 10.1007/s00018-016-2372-1
PMCID:
PMC5311022
AbstractArticlePDF–1.3M
11.
Proposed association between the hexanucleotide repeat of C9orf72 and opposability index of the thumb
Zhongbo Chen, Kuang Lin, Jeffrey D. Macklis, Ammar Al-Chalabi
Amyotroph Lateral Scler Frontotemporal Degener. 2017 Apr 3; 18(3-4): 175–181. Published online 2016 Dec 23. doi: 10.1080/21678421.2016.1257024
PMCID:
PMC5425628
AbstractArticlePDF–585K
12.
Designer protein disaggregases to counter neurodegenerative disease
James Shorter
Curr Opin Genet Dev. Author manuscript; available in PMC 2018 Jun 1.
Published in final edited form as: Curr Opin Genet Dev. 2017 Jun; 44: 1–8. Published online 2017 Feb 14. doi: 10.1016/j.gde.2017.01.008
PMCID:
PMC5447488
AbstractArticlePDF–333K
13.
Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy
James B. Caress, Janel O. Johnson, Yevgeniya A. Abramzon, Gregory A. Hawkins, J. Raphael Gibbs, Elizabeth A. Sullivan, Chamanpreet S. Chahal, Bryan J. Traynor
Muscle Nerve. Author manuscript; available in PMC 2018 Nov 1.
Published in final edited form as: Muscle Nerve. 2017 Nov; 56(5): 1001–1005. Published online 2017 Mar 23. doi: 10.1002/mus.25550
PMCID:
PMC5494018
AbstractArticlePDF–529K
14.
Profilin 1 mutants form aggregates that induce accumulation of prion-like TDP-43
Yoshinori Tanaka, Masato Hasegawa
Prion. 2016; 10(4): 283–289. Published online 2016 Jul 18. doi: 10.1080/19336896.2016.1207033
PMCID:
PMC5082967
AbstractArticlePDF–160K
15.
Pyrimethamine significantly lowers cerebrospinal fluid Cu/Zn superoxide dismutase in amyotrophic lateral sclerosis patients with SOD1 mutations
Dale J. Lange, Mona Shahbazi, Vincenzo Silani, Albert C. Ludolph, Jochen H. Weishaupt, Senda Ajroud‐Driss, Kara G. Fields, Rahul Remanan, Stanley H. Appel, Claudia Morelli, Alberto Doretti, Luca Maderna, Stefano Messina, Ulrike Weiland, Stefan L. Marklund, Peter M. Andersen
Ann Neurol. 2017 Jun; 81(6): 837–848. Published online 2017 Jun 9. doi: 10.1002/ana.24950
PMCID:
PMC5518287
AbstractArticlePDF–368K
16.
Meta-analysis of the association between variants in MAPT and neurodegenerative diseases
Cheng-Cheng Zhang, Jun-Xia Zhu, Yu Wan, Lin Tan, Hui-Fu Wang, Jin-Tai Yu, Lan Tan
Oncotarget. 2017 Jul 4; 8(27): 44994–45007. Published online 2017 Mar 29. doi: 10.18632/oncotarget.16690
PMCID:
PMC5546535
AbstractArticlePDF–1.6M
17.
Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS
Anna Maria D’Erchia, Angela Gallo, Caterina Manzari, Susanna Raho, David S. Horner, Matteo Chiara, Alessio Valletti, Italia Aiello, Francesca Mastropasqua, Loredana Ciaccia, Franco Locatelli, Francesco Pisani, Grazia Paola Nicchia, Maria Svelto, Graziano Pesole, Ernesto Picardi
Sci Rep. 2017; 7: 10046. Published online 2017 Aug 30. doi: 10.1038/s41598-017-10488-7
PMCID:
PMC5577269
AbstractArticlePDF–2.6M
18.
Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials
Ruben P.A. van Eijk, Ashley R. Jones, William Sproviero, Aleksey Shatunov, Pamela J. Shaw, P. Nigel Leigh, Carolyn A. Young, Christopher E. Shaw, Gabriele Mora, Jessica Mandrioli, Giuseppe Borghero, Paolo Volanti, Frank P. Diekstra, Wouter van Rheenen, Esther Verstraete, Marinus J.C. Eijkemans, Jan H. Veldink, Adriano Chio, Ammar Al-Chalabi, Leonard H. van den Berg, Michael A. van Es, For UKMND-LiCALS and LITALS Study Group
Neurology. 2017 Oct 31; 89(18): 1915–1922. doi: 10.1212/WNL.0000000000004606
PMCID:
PMC5664299
AbstractArticlePDF–368K
19.
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese
Jacob Gratten, Qiongyi Zhao, Beben Benyamin, Fleur Garton, Ji He, Paul J. Leo, Marie Mangelsdorf, Lisa Anderson, Zong-Hong Zhang, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Janette Edson, Ying-Ying Han, Jessica Harris, Anjali K. Henders, Zi-Bing Jin, Zhongshan Li, Yong Lin, Xiaolu Liu, Mhairi Marshall, Bryan J. Mowry, Shu Ran, David C. Reutens, Sharon Song, Li-Jun Tan, Lu Tang, Robyn H. Wallace, Lawrie Wheeler, Jinyu Wu, Jian Yang, Huji Xu, Peter M. Visscher, Perry F. Bartlett, Matthew A. Brown, Naomi R. Wray, Dongsheng Fan
Genome Med. 2017; 9: 97. Published online 2017 Nov 17. doi: 10.1186/s13073-017-0487-0
PMCID:
PMC5693798
AbstractArticlePDF–986K
20.
Neuronal apoptosis inhibitory protein is implicated in amyotrophic lateral sclerosis symptoms
Osamu Kano, Kazunori Tanaka, Takuya Kanno, Yasuo Iwasaki, Joh-E Ikeda
Sci Rep. 2018; 8: 6. Published online 2018 Jan 8. doi: 10.1038/s41598-017-18627-w
PMCID:
PMC5758777
AbstractArticlePDF–1.2M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center