Works matching DE "GENETICS of amyotrophic lateral sclerosis"

Results: 207

Genetic link between KIF1A mutations and amyotrophic lateral sclerosis: evidence from whole-exome sequencing.

Published in:

Frontiers in Aging Neuroscience, 2024, p. 1, doi. 10.3389/fnagi.2024.1421841

By:

Wei Zheng;
Ji He;
Lu Chen;
Weiyi Yu;
Nan Zhang;
Xiaoxuan Liu;
Dongsheng Fan

Publication type:

Article

Pathological Roles of Wild-Type Cu, Zn-Superoxide Dismutase in Amyotrophic Lateral Sclerosis.

Published in:

Neurology Research International, 2012, p. 1, doi. 10.1155/2012/323261

By:

Furukawa, Yoshiaki

Publication type:

Article

From Transcriptome to Noncoding RNAs: Implications in ALS Mechanism.

Published in:

Neurology Research International, 2012, p. 1, doi. 10.1155/2012/278725

By:

Gagliardi, Stella;
Milani, Pamela;
Sardone, Valentina;
Pansarasa, Orietta;
Cereda, Cristina

Publication type:

Article

Effects of epigallocatechin‑3‑gallate on iron metabolism in spinal cord motor neurons.

Published in:

Molecular Medicine Reports, 2017, v. 16, n. 3, p. 3010, doi. 10.3892/mmr.2017.6919

By:

FENGYUAN CHE;
GUANGYING WANG;
JIXU YU;
XIANJUN WANG;
YUCHENG LU;
QINGXI FU;
QUANPING SU;
JIANZHANG JIANG;
YIFENG DU

Publication type:

Article

Dynamic expression of the mouse orthologue of the human amyotropic lateral sclerosis associated gene C9orf72 during central nervous system development and neuronal differentiation.

Published in:

Journal of Anatomy, 2016, v. 229, n. 6, p. 871, doi. 10.1111/joa.12526

By:

Ferguson, Ross;
Serafeimidou‐Pouliou, Eleni;
Subramanian, Vasanta

Publication type:

Article

Selective Motor Neuron Resistance and Recovery in a New Inducible Mouse Model of TDP-43 Proteinopathy.

Published in:

Journal of Neuroscience, 2016, v. 36, n. 29, p. 7707, doi. 10.1523/JNEUROSCI.1457-16.2016

By:

Spiller, Krista J.;
Cheung, Claudia J.;
Restrepo, Clark R.;
Kwong, Linda K.;
Stieber, Anna M.;
Trojanowski, John Q.;
Lee, Virginia M.-Y.

Publication type:

Article

Ultrastructural features of aberrant glial cells isolated from the spinal cord of paralytic rats expressing the amyotrophic lateral sclerosis-linked SOD1G93A mutation.

Published in:

Cell & Tissue Research, 2017, v. 370, n. 3, p. 391, doi. 10.1007/s00441-017-2681-1

By:

Jiménez-Riani, Marcie;
Díaz-Amarilla, Pablo;
Isasi, Eugenia;
Casanova, Gabriela;
Barbeito, Luis;
Olivera-Bravo, Silvia

Publication type:

Article

Motor-neuron disease: Rogue gene in the family.

Published in:

Nature, 2009, v. 458, n. 7237, p. 415, doi. 10.1038/458415a

By:

Sleegers, Kristel;
Van Broeckhoven, Christine

Publication type:

Article

Motor neuron disease: The curious ways of ALS.

Published in:

Nature, 2008, v. 454, n. 7202, p. 284, doi. 10.1038/454284a

By:

Polymenidou, Magdalini;
Cleveland, Don W.

Publication type:

Article

Efficacy and long-term safety of CRISPR/Cas9 genome editing in the SOD1-linked mouse models of ALS.

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01942-4

By:

Deng, Han-Xiang;
Zhai, Hong;
Shi, Yong;
Liu, Guoxiang;
Lowry, Jessica;
Liu, Bin;
Ryan, Éanna B.;
Yan, Jianhua;
Yang, Yi;
Zhang, Nigel;
Yang, Zhihua;
Liu, Erdong;
Ma, Yongchao C.;
Siddique, Teepu

Publication type:

Article

A4T Mutation in the SOD1 Gene Causing Familial Amyotrophic Lateral Sclerosis.

Published in:

Neuroepidemiology, 2003, v. 22, n. 4, p. 235, doi. 10.1159/000070564

By:

Aksoy, Hatice;
Dean, Geoffrey;
Elian, Marta;
Deng, H. X.;
Deng, Gang;
Juneja, Tony;
Storey, Elsdon;
Gardner, R. J. McKinlay;
Jacob, Rebecca L.;
Laing, Nigel G.;
Siddique, Teepu

Publication type:

Article

Development of a rat model of amyotrophic lateral sclerosis expressing a human SOD1 transgene.

Published in:

Neuropathology, 2005, v. 25, n. 4, p. 365, doi. 10.1111/j.1440-1789.2005.00611.x

By:

Aoki, Masashi;
Kato, Shinsuke;
Nagai, Makiko;
Itoyama, Yasuto

Publication type:

Article

Compound heterozygote mutations in the SIGMAR1 gene in an oldest‐old patient with amyotrophic lateral sclerosis.

Published in:

Geriatrics & Gerontology International, 2018, v. 18, n. 10, p. 1519, doi. 10.1111/ggi.13506

By:

Izumi, Yuishin;
Morino, Hiroyuki;
Miyamoto, Ryosuke;
Matsuda, Yukiko;
Ohsawa, Ryosuke;
Kurashige, Takashi;
Shimatani, Yoshimitsu;
Kaji, Ryuji;
Kawakami, Hideshi

Publication type:

Article

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 3, p. 247, doi. 10.1038/jhg.2010.162

By:

Belzil, Véronique V;
St-Onge, Judith;
Daoud, Hussein;
Desjarlais, Anne;
Bouchard, Jean-Pierre;
Dupré, Nicolas;
Camu, William;
Dion, Patrick A;
Rouleau, Guy A

Publication type:

Article

Genetic analysis of ERBB4 gene in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature.

Published in:

Frontiers in Aging Neuroscience, 2025, p. 1, doi. 10.3389/fnagi.2025.1584541

By:

Shen, Dongchao;
Yang, Xunzhe;
He, Di;
Zhang, Kang;
Liu, Shuangwu;
Sun, Xiaohan;
Li, Jinyue;
Cai, Zhengyi;
Liu, Mingsheng;
Zhang, Xue;
Liu, Qing;
Cui, Liying

Publication type:

Article

Something old, something new: TBK1, a novel gene in known amyotrophic lateral sclerosis pathways.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 339, doi. 10.1111/cge.12624

By:

Farhan, S.M.K.

Publication type:

Article

Clinical and genetic heterogeneity of amyotrophic lateral sclerosis Clinical and genetic heterogeneity of amyotrophic lateral sclerosis.

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 408, doi. 10.1111/cge.12117

By:

Sabatelli, M;
Conte, A;
Zollino, M

Publication type:

Article

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 4, p. 492, doi. 10.1038/ejhg.2013.184

By:

Kwok, Chun T;
Morris, Alex;
de Belleroche, Jacqueline S

Publication type:

Article

Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 5, p. 599, doi. 10.1038/sj.ejhg.5200337

By:

Aguirre, Tania;
Matthijs, Gert;
Robberecht, Wim;
Tilkin, Petra;
Cassiman, Jean-Jacques

Publication type:

Article

Identification of Interacting Genes in Genome-Wide Association Studies Using a Model-Based Two-Stage Approach.

Published in:

Annals of Human Genetics, 2010, v. 74, n. 5, p. 406, doi. 10.1111/j.1469-1809.2010.00594.x

By:

Zhaogong Zhang;
Niu, Adan;
Qiuying Sha

Publication type:

Article

The ER mitochondria calcium cycle and ER stress response as therapeutic targets in amyotrophic lateral sclerosis.

Published in:

Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00147

By:

Tadic, Vedrana;
Prell, Tino;
Lautenschlaeger, Janin;
Grosskreutz, Julian

Publication type:

Article

Deregulated expression of cytoskeleton related genes in the spinal cord and sciatic nerve of presymptomatic SOD1G93A Amyotrophic Lateral Sclerosis mouse model.

Published in:

Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00148

By:

Maximino, Jessica R.;
de Oliveira, Gabriela P.;
Alves, Chrystian J.;
Chadi, Gerson

Publication type:

Article

The role of miRNA in motor neuron disease.

Published in:

Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00015

By:

Min Jeong Kye;
Gonçalves, Inês do Carmo G.

Publication type:

Article

Modeling the C9ORF72 repeat expansion mutation using human induced pluripotent stem cells.

Published in:

Brain Pathology, 2017, v. 27, n. 4, p. 518, doi. 10.1111/bpa.12520

By:

Selvaraj, Bhuvaneish T.;
Livesey, Matthew R.;
Chandran, Siddharthan

Publication type:

Article

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.

Published in:

Brain Pathology, 2016, v. 26, n. 2, p. 266, doi. 10.1111/bpa.12354

By:

Sabatelli, Mario;
Marangi, Giuseppe;
Conte, Amelia;
Tasca, Giorgio;
Zollino, Marcella;
Lattante, Serena

Publication type:

Article

Repeat expansion in ALS and FTD.

Published in:

Nature Genetics, 2011, v. 43, n. 11, p. 1053, doi. 10.1038/ng.1000

By:

Vogan, Kyle

Publication type:

Article

VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death.

Published in:

Nature Genetics, 2003, v. 34, n. 4, p. 383, doi. 10.1038/ng1211

By:

Lambrechts, Diether;
Storkebaum, Erik;
Morimoto, Masafumi;
Del-Favero, Jurgen;
Desmet, Frederik;
Marklund, Stefan L.;
Wyns, Sabine;
Thijs, Vincent;
Andersson, Jörgen;
van Marion, Ingrid;
Al-Chalabi, Ammar;
Bornes, Stephanie;
Musson, Rhiannon;
Hansen, Valerie;
Beckman, Lars;
Adolfsson, Rolf;
Pall, Hardev Singh;
Prats, Hervé;
Vermeire, Severine

Publication type:

Article

Hypoxia and Lou Gehrig.

Published in:

Nature Genetics, 2001, v. 28, n. 2, p. 107, doi. 10.1038/88805

By:

Skene, JH Pate;
Cleveland, Don W

Publication type:

Article

Differential gene expression in human spinal cord tissues from ALS patients.

Published in:

1999

By:

Dangond, Fernando;
Brown, Robert;
Gullans, Steven R.

Publication type:

Abstract

ALS-Associated FUS Mutations Result in Compromised FUS Alternative Splicing and Autoregulation.

Published in:

PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003895

By:

Zhou, Yueqin;
Liu, Songyan;
Liu, Guodong;
Öztürk, Arzu;
Hicks, Geoffrey G.

Publication type:

Article

Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice.

Published in:

Journal of Clinical Investigation, 2011, v. 121, n. 2, p. 726, doi. 10.1172/JCI44867

By:

Igaz, Lionel M.;
Kwong, Linda K.;
Lee, Edward B.;
Chen-Plotkin, Alice;
Swanson, Eric;
Unger, Travis;
Malunda, Joe;
Yan Xu;
Winton, Matthew J.;
Trojanowski, John Q.;
Lee, Virginia M.-Y.

Publication type:

Article

The Observatory: Genetics/Genomics.

Published in:: Medical Laboratory Observer (MLO), 2017, v. 49, n. 5, p. 6
Publication type:: Article

The Observatory. New Studies.

Published in:: Medical Laboratory Observer (MLO), 2016, v. 48, n. 9, p. 11
Publication type:: Article

Advances on the genetic mechanism of amyotrophic lateral sclerosis.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2023, v. 23, n. 3, p. 264, doi. 10.3969/j.issn.1672-6731.2023.03.017

By:

ZHAO Qian-qian;
LI Wan-zhen;
TANG Bei-sha;
WANG Jun-ling

Publication type:

Article

Familial amyotrophic lateral sclerosis with FUS gene mutation: one case report.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2021, v. 21, n. 6, p. 473, doi. 10.3969/j.issn.1672-6731.2021.06.008

By:

LI Xiang;
ZHANG Hui-yuan;
ZHANG Jian;
HE Zhi-yi

Publication type:

Article

The genetics of amyotrophic lateral sclerosis: current insights.

Published in:

Degenerative Neurological & Neuromuscular Disease, 2016, v. 6, p. 49, doi. 10.2147/DNND.S84956

By:

Alsultan, Afnan A.;
Waller, Rachel;
Heath, Paul R.;
Kirby, Janine

Publication type:

Article

Amyotrophic lateral sclerosis: update and new developments.

Published in:

Degenerative Neurological & Neuromuscular Disease, 2012, v. 2, p. 1, doi. 10.2147/DNND.S19803

By:

Pratt, Ashley J.;
Getzoff, Elizabeth D.;
Perry, J Jefferson P.

Publication type:

Article

Genetic Association between Amyotrophic Lateral Sclerosis and Cancer.

Published in:

Genes, 2017, v. 8, n. 10, p. 243, doi. 10.3390/genes8100243

By:

Taguchi, Y.-h.;
Hsiuying Wang

Publication type:

Article

Ataxin-2: From RNA Control to Human Health and Disease.

Published in:

Genes, 2017, v. 8, n. 6, p. 157, doi. 10.3390/genes8060157

By:

Ostrowski, Lauren A.;
Hall, Amanda C.;
Mekhail, Karim

Publication type:

Article

Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72.

Published in:

Journal of Central Nervous System Disease, 2015, n. 7, p. 15, doi. 10.4137/JCNSD.S24317

By:

Shouta Kitano;
Yoshihiro Kino;
Yoji Yamamoto;
Mika Takitani;
Junko Miyoshi;
Tsuyoshi Ishida;
Yuko Saito;
Kunimasa Arima;
Jun-ichi Satoh

Publication type:

Article

A Comprehensive Profile of ChIP-Seq-Based Olig2 Target Genes in Motor Neuron Progenitor Cells Suggests the Possible Involvement of Olig2 in the Pathogenesis of Amyotrophic Lateral Sclerosis.

Published in:

Journal of Central Nervous System Disease, 2015, n. 7, p. 1, doi. 10.4137/JCNSD.S23210

By:

Jun-ichi Satoh;
Naohiro Asahina;
Shouta Kitano;
Yoshihiro Kino

Publication type:

Article

Gene Linked to ALS.

Published in:

JAMA: Journal of the American Medical Association, 2007, v. 298, n. 17, p. 1998, doi. 10.1001/jama.298.17.1998-d

By:

Hampton, Tracy

Publication type:

Article

No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population.

Published in:

PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170943

By:

Huang, Xiao;
Shen, Shen;
Fan, Dongsheng

Publication type:

Article

MicroNeurotrophins Improve Survival in Motor Neuron-Astrocyte Co-Cultures but Do Not Improve Disease Phenotypes in a Mutant SOD1 Mouse Model of Amyotrophic Lateral Sclerosis.

Published in:

PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164103

By:

Glajch, Kelly E.;
Ferraiuolo, Laura;
Mueller, Kaly A.;
Stopford, Matthew J.;
Prabhkar, Varsha;
Gravanis, Achille;
Shaw, Pamela J.;
Sadri-Vakili, Ghazaleh

Publication type:

Article

Wnt Signaling Alteration in the Spinal Cord of Amyotrophic Lateral Sclerosis Transgenic Mice: Special Focus on Frizzled-5 Cellular Expression Pattern.

Published in:

PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155867

By:

González-Fernández, Carlos;
Mancuso, Renzo;
del Valle, Jaume;
Navarro, Xavier;
Rodríguez, Francisco Javier

Publication type:

Article

Amyotrophic Lateral Sclerosis.

Published in:

Radiologic Technology, 2025, v. 96, n. 6, p. 441

By:

Weber, Daria

Publication type:

Article

Cytoplasmic mislocalization of RNA splicing factors and aberrant neuronal gene splicing in TDP-43 transgenic pig brain.

Published in:

Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0036-5

By:

Guohao Wang;
Huaqiang Yang;
Sen Yan;
Chuan-En Wang;
Xudong Liu;
Bentian Zhao;
Zhen Ouyang;
Peng Yin;
Zhaoming Liu;
Yu Zhao;
Tao Liu;
Nana Fan;
Lin Guo;
Shihua Li;
Xiao-Jiang Li;
Liangxue Lai

Publication type:

Article

Genetics of amyotrophic lateral sclerosis: an update.

Published in:

Molecular Neurodegeneration, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1326-8-28

By:

Sheng Chen;
Sayana, Pavani;
Xiaojie Zhang;
Weidong Le

Publication type:

Article

as a cause of familial Amyotrophic lateral sclerosis, a case report in a pregnant patient.

Published in:

2022

By:

Bazán-Rodríguez, Lisette;
Ruíz-Avalos, Jesús A.;
Bernal-López, Oscar;
Benitez-Alonso, Edmar O.;
Villaseñor-Sánchez, Jesica;
Fernandez-Valverde, Francisca;
Vargas-Cañas, Steven

Publication type:

journal article

Expression of Carbonic Anhydrase I in Motor Neurons and Alterations in ALS.

Published in:

International Journal of Molecular Sciences, 2016, v. 17, n. 11, p. 1820, doi. 10.3390/ijms17111820

By:

Xiaochen Liu;
Deyi Lu;
Bowser, Robert;
Jian Liu

Publication type:

Article