Works matching DE "GENETICS of amyotrophic lateral sclerosis"

Results: 205

ALS Care and Ventilation.

Published in:

RT: The Journal for Respiratory Care Practitioners, 2017, v. 30, n. 6, p. 12

By:

Hanlon, Phyllis

Publication type:

Article

Gene-reading defect linked to ALS.

Published in:: Patient Care (Print), 1998, v. 32, n. 18, p. 14
Publication type:: Article

Establishing mRNA and microRNA interactions driving disease heterogeneity in amyotrophic lateral sclerosis patient survival.

Published in:

Brain Communications, 2024, v. 6, n. 1, p. 1, doi. 10.1093/braincomms/fcad331

By:

Waller, Rachel;
Bury, Joanna J;
Appleby-Mallinder, Charlie;
Wyles, Matthew;
Loxley, George;
Babel, Aditi;
Shekari, Saleh;
Kazoka, Mbombe;
Wollff, Helen;
Al-Chalabi, Ammar;
Heath, Paul R;
Shaw, Pamela J;
Kirby, Janine

Publication type:

Article

Neurodegenerative disease: Expanding neurodegeneration modelling.

Published in:

Nature Reviews Neuroscience, 2015, v. 16, n. 7, p. 376, doi. 10.1038/nrn3982

By:

Lewis, Sian

Publication type:

Article

Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene.

Published in:

Acta Neuropathologica Communications, 2017, v. 5, p. 12, doi. 10.1186/s40478-017-0437-5

By:

Davidson, Yvonne S.;
Flood, Louis;
Robinson, Andrew C.;
Yoshihiro Nihei;
Mori, Kohji;
Rollinson, Sara;
Richardson, Anna;
Benson, Bridget C.;
Jones, Matthew;
Snowden, Julie S.;
Pickering-Brown, Stuart;
Haass, Christian;
Lashley, Tammaryn;
Mann, David M. A.

Publication type:

Article

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0235-x

By:

King, Andrew;
Troakes, Claire;
Smith, Bradley;
Nolan, Matthew;
Curran, Olimpia;
Vance, Caroline;
Shaw, Christopher E.;
Al-Sarraj, Safa

Publication type:

Article

Spread of pathology in amyotrophic lateral sclerosis: assessment of phosphorylated TDP-43 along axonal pathways.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0226-y

By:

Fatima, Manaal;
Tan, Rachel;
Halliday, Glenda M.;
Kril, Jillian J.

Publication type:

Article

GM604 regulates developmental neurogenesis pathways and the expression of genes associated with amyotrophic lateral sclerosis.

Published in:

Translational Neurodegeneration, 2018, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40035-018-0135-7

By:

Swindell, William R.;
Bojanowski, Krzysztof;
Kindy, Mark S.;
Chau, Raymond M. W.;
Ko, Dorothy

Publication type:

Article

Environmental insults: critical triggers for amyotrophic lateral sclerosis.

Published in:

Translational Neurodegeneration, 2017, v. 6, p. 1, doi. 10.1186/s40035-017-0087-3

By:

Bing Yu;
Pamphlett, Roger

Publication type:

Article

Genotype-phenotype correlations of amyotrophic lateral sclerosis.

Published in:

Translational Neurodegeneration, 2016, v. 5, p. 1, doi. 10.1186/s40035-016-0050-8

By:

Hong-Fu Li;
Zhi-Ying Wu

Publication type:

Article

Metabolic Changes Associated With Muscle Expression of SOD1<sup>G93A</sup>.

Published in:

Frontiers in Physiology, 2018, p. N.PAG, doi. 10.3389/fphys.2018.00831

By:

Dobrowolny, Gabriella;
Lepore, Elisa;
Martini, Martina;
Barberi, Laura;
Nunn, Abigail;
Scicchitano, Bianca Maria;
Musarò, Antonio

Publication type:

Article

Circadian Rhythm Dysfunction Accelerates Disease Progression in a Mouse Model With Amyotrophic Lateral Sclerosis.

Published in:

Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00218

By:

Huang, Zhilin;
Liu, Qiang;
Peng, Yu;
Dai, Jiaying;
Xie, Youna;
Chen, Weineng;
Long, Simei;
Pei, Zhong;
Su, Huanxing;
Yao, Xiaoli

Publication type:

Article

A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis.

Published in:

Frontiers in Aging Neuroscience, 2016, v. 8, p. 1, doi. 10.3389/fnagi.2016.00291

By:

Chujun Wu;
Dongsheng Fan

Publication type:

Article

Nucleocytoplasmic transport in C9orf72- mediated ALS/FTD.

Published in:

Nucleus (1949-1034), 2016, v. 7, n. 2, p. 132, doi. 10.1080/19491034.2016.1172152

By:

Zhang, Ke;
Grima, Jonathan C.;
Rothstein, Jeffery D.;
Lloyd, Thomas E.

Publication type:

Article

SOD1 (L144F) ve C9orf72 Gen Mutasyonları Saptanan İki Aile ve Amiyotrofik Lateral Skleroza Genel Bakış.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2018, v. 24, n. 2, p. 159, doi. 10.4274/tnd.26214

By:

Bülbül, Nazlı Gamze;
Seçil, Yaprak;
Başak, Nazlı;
Beckmann, Yeşim;
Türe, Hatice Sabiha;
Tunca, Ceren;
Özoğuz, Aslıhan

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

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

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

CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?

Published in:

2018

By:

Project Mine Als Sequencing Consortium

Publication type:

journal article

Juvenile amyotrophic lateral sclerosis: Classical wine glass sign on magnetic resonance imaging.

Published in:

Journal of Pediatric Neurosciences, 2016, v. 11, n. 1, p. 56, doi. 10.4103/1817-1745.181251

By:

Kumar, Saurabh;
Aga, Pallavi;
Gupta, Aakansha;
Kohli, Neera

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

Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.

Published in:

Acta Neuropathologica, 2017, v. 134, n. 5, p. 715, doi. 10.1007/s00401-017-1760-4

By:

Ebbert, Mark;
Ross, Christian;
Pregent, Luc;
Lank, Rebecca;
Zhang, Cheng;
Katzman, Rebecca;
Jansen-West, Karen;
Song, Yuping;
Rocha, Edroaldo;
Palmucci, Carla;
Desaro, Pamela;
Robertson, Amelia;
Caputo, Ana;
Dickson, Dennis;
Boylan, Kevin;
Rademakers, Rosa;
Ordog, Tamas;
Li, Hu;
Belzil, Veronique

Publication type:

Article

ALS and FTD: an epigenetic perspective.

Published in:

Acta Neuropathologica, 2016, v. 132, n. 4, p. 487, doi. 10.1007/s00401-016-1587-4

By:

Belzil, Veronique;
Katzman, Rebecca;
Petrucelli, Leonard

Publication type:

Article

ALS mutant SOD1 interacts with G3BP1 and affects stress granule dynamics.

Published in:

Acta Neuropathologica, 2016, v. 132, n. 4, p. 563, doi. 10.1007/s00401-016-1601-x

By:

Gal, Jozsef;
Kuang, Lisha;
Barnett, Kelly;
Zhu, Brian;
Shissler, Susannah;
Korotkov, Konstantin;
Hayward, Lawrence;
Kasarskis, Edward;
Zhu, Haining

Publication type:

Article

Amyotrophic Lateral Sclerosis with a ‘Pseudo-Infarction’ Pattern on the Electrocardiograph.

Published in:

Cardiology, 2000, v. 93, n. 1/2, p. 133, doi. 10.1159/000007016

By:

Ai-Hsien Li, Beth;
Kwan-Lih Hsu;
Chiau-Suong Liau;
Yung-Zu Tseng;
Yuan-Teh Lee

Publication type:

Article

Proteomics analysis of FUS mutant human motoneurons reveals altered regulation of cytoskeleton and other ALS-linked proteins via 3′UTR binding.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68794-6

By:

Garone, Maria Giovanna;
Alfano, Vincenzo;
Salvatori, Beatrice;
Braccia, Clarissa;
Peruzzi, Giovanna;
Colantoni, Alessio;
Bozzoni, Irene;
Armirotti, Andrea;
Rosa, Alessandro

Publication type:

Article

RNA Dysregulation in Amyotrophic Lateral Sclerosis.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00712

By:

Butti, Zoe;
Patten, Shunmoogum A.

Publication type:

Article

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

Adeno Associated Viral Vector Delivered RNAi for Gene Therapy of SOD1 Amyotrophic Lateral Sclerosis.

Published in:

Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2016.00056

By:

Stoica, Lorelei;
Sena-Esteves, Miguel;
Sanyal, Subhabrata;
Ferraiuolo, Laura

Publication type:

Article

Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis.

Published in:

Journal of Genetic Counseling, 2025, v. 34, n. 1, p. 1, doi. 10.1002/jgc4.1890

By:

Steigerwald, Connolly G.;
Bertolini, Carina;
McElhiney, Martin;
Bergner, Amanda L.;
Harms, Matthew B.;
Harrington, Elizabeth A.

Publication type:

Article

The lived experience of reconstructing identity in response to genetic risk of frontotemporal degeneration and amyotrophic lateral sclerosis.

Published in:

Journal of Genetic Counseling, 2024, v. 33, n. 3, p. 515, doi. 10.1002/jgc4.1749

By:

Dratch, Laynie;
Owczarzak, Jill;
Mu, Weiyi;
Cousins, Katheryn A. Q.;
Massimo, Lauren;
Grossman, Murray;
Erby, Lori

Publication type:

Article

Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences.

Published in:

Journal of Genetic Counseling, 2022, v. 31, n. 5, p. 1206, doi. 10.1002/jgc4.1591

By:

Crook, Ashley;
Jacobs, Chris;
Newton‐John, Toby;
McEwen, Alison

Publication type:

Article

Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing.

Published in:

Journal of Genetic Counseling, 2017, v. 26, n. 3, p. 604, doi. 10.1007/s10897-016-0034-y

By:

Wagner, Karin;
Nagaraja, Haikady;
Allain, Dawn;
Quick, Adam;
Kolb, Stephen;
Roggenbuck, Jennifer

Publication type:

Article

Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson's Disease.

Published in:

Journal of Genetic Counseling, 2017, v. 26, n. 3, p. 442, doi. 10.1007/s10897-017-0088-5

By:

Mantero, Vittorio;
Tarlarini, Claudia;
Aliprandi, Angelo;
Lauria, Giuseppe;
Rigamonti, Andrea;
Abate, Lucia;
Origone, Paola;
Mandich, Paola;
Penco, Silvana;
Salmaggi, Andrea

Publication type:

Article

Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results.

Published in:

Journal of Genetic Counseling, 2015, v. 24, n. 4, p. 553, doi. 10.1007/s10897-015-9831-y

By:

Mandich, Paola;
Mantero, Vittorio;
Verdiani, Simonetta;
Gotta, Fabio;
Caponnetto, Claudia;
Bellone, Emilia;
Ferrandes, Giovanna;
Origone, Paola

Publication type:

Article

Reduction in hSOD1 copy number significantly impacts ALS phenotype presentation in G37R (line 29) mice: implications for the assessment of putative therapeutic agents.

Published in:

Journal of Negative Results in Biomedicine, 2014, v. 13, n. 1, p. 1, doi. 10.1186/1477-5751-13-14

By:

Zwiegers, Pierre;
Lee, Grace;
Shaw, Christopher A.

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

Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution.

Published in:

Neuropathology & Applied Neurobiology, 2017, v. 43, n. 2, p. 133, doi. 10.1111/nan.12328

By:

De Marco, G.;
Lomartire, A.;
Calvo, A.;
Risso, A.;
De Luca, E.;
Mostert, M.;
Mandrioli, J.;
Caponnetto, C.;
Borghero, G.;
Manera, U.;
Canosa, A.;
Moglia, C.;
Restagno, G.;
Fini, N.;
Tarella, C.;
Giordana, M. T.;
Rinaudo, M. T.;
Chiò, A.

Publication type:

Article

C9ORF72 repeat-associated non- ATG-translated polypeptides are distributed independently of TDP-43 in a Japanese patient with c9 ALS.

Published in:

Neuropathology & Applied Neurobiology, 2014, v. 40, n. 6, p. 783, doi. 10.1111/nan.12157

By:

Konno, Takuya;
Tada, Mari;
Shiga, Atsushi;
Tsujino, Akira;
Eguchi, Hiroto;
Masuda‐Suzukake, Masami;
Hasegawa, Masato;
Nishizawa, Masatoyo;
Onodera, Osamu;
Kakita, Akiyoshi;
Takahashi, Hitoshi

Publication type:

Article

A mouse model of familial amyotrophic lateral sclerosis expressing a mutant superoxide dismutase 1 shows evidence of disordered transport in the vasopressin hypothalamo-neurohypophysial axis.

Published in:

European Journal of Neuroscience, 1999, v. 11, n. 12, p. 4179, doi. 10.1046/j.1460-9568.1999.00840.x

By:

de Aguilar, José‐Luis González;
Gordon, Jon W.;
René, Frédérique;
Lutz‐Bucher, Bernadette;
Kienlen‐Campard, Pascal;
Loeffler, Jean‐Philippe

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

Motor Neurone Disease (MND/ALS) among Maltese in Malta and Australia: many sporadic cases were related.

Published in:

Malta Medical Journal, 2014, v. 26, n. 4, p. 21

By:

Wyatt, H. V.

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

Profilin 1 Associates with Stress Granules and ALS-Linked Mutations Alter Stress Granule Dynamics.

Published in:

Journal of Neuroscience, 2014, v. 34, n. 24, p. 8083, doi. 10.1523/JNEUROSCI.0543-14.2014

By:

Figley, Matthew D.;
Bieri, Gregor;
Kolaitis, Regina-Maria;
Paul Taylor, J.;
Gitler, Aaron D.

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