Works matching DE "GENETICS of amyotrophic lateral sclerosis"

Results: 205

Amyotrophic lateral sclerosis Donohue syndrome.

Published in:: Anaesthesiologie & Intensivmedizin, 2023, v. 64, p. S1
Publication type:: Article

SOD1 silencing in motoneurons or glia rescues neuromuscular function in ALS mice.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 2, p. 167, doi. 10.1002/acn3.162

By:

Dirren, Elisabeth;
Aebischer, Julianne;
Rochat, Cylia;
Towne, Christopher;
Schneider, Bernard L.;
Aebischer, Patrick

Publication type:

Article

A novel D90_K91insN mutation in exon 4 of the SOD1 gene caused familial amyotrophic lateral sclerosis in a Chinese pedigree.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018, v. 19, n. 7/8, p. 516, doi. 10.1080/21678421.2018.1457057

By:

Li, Yanran;
Sun, Bo;
Chen, Siyu;
Ren, Yuting;
Cui, Fang;
Yang, Fei;
Chen, Zhaohui;
Ling, Li;
Huang, Xusheng

Publication type:

Article

Prediagnostic body size and risk of amyotrophic lateral sclerosis death in 10 studies.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018, v. 19, n. 5/6, p. 396, doi. 10.1080/21678421.2018.1452944

By:

O'Reilly, Éilis J.;
Smith-Warner, Stephanie A.;
Daugherty, Sarah;
Freedman, D. Michal;
Schairer, Catherine;
English, Dallas R.;
Giles, Graham G.;
Håkansson, Niclas;
Wolk, Alicja;
Wang, Molin;
Buring, Julie;
Kurth, Tobias;
Adami, Hans-Olov;
Weiderpass, Elisabete;
Alonso, Alvaro;
Bernstein, Leslie;
Deapen, Dennis;
van den Brandt, Piet

Publication type:

Article

Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018, v. 19, n. 5/6, p. 426, doi. 10.1080/21678421.2018.1440407

By:

Corrado, Lucia;
Locci, Clarissa;
Bagarotti, Alessandra;
Barizzone, Nadia;
Cotella, Diego;
D'alfonso, Sandra;
Tiloca, Cinzia;
Colombrita, Claudia;
Ticozzi, Nicola;
Ratti, Antonia;
Silani, Vincenzo;
Hamzeiy, Hamid;
Nazli Basak, AYSE;
De marchi, Fabiola;
Mazzini, Letizia

Publication type:

Article

Mass spectrometry analysis of plasma from amyotrophic lateral sclerosis and control subjects.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018, v. 19, n. 5/6, p. 362, doi. 10.1080/21678421.2018.1433689

By:

Xu, Zhouwei;
Lee, Aven;
McCombe, Pamela Ann;
Nouwens, Amanda;
Henderson, Robert David

Publication type:

Article

An association study between SCFD1 rs10139154 variant and amyotrophic lateral sclerosis in a Chinese cohort.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018, v. 19, n. 5/6, p. 413, doi. 10.1080/21678421.2017.1418006

By:

Chen, Yongping;
Zhou, Qingqing;
Gu, Xiaojing;
Wei, Qianqian;
Cao, Bei;
Liu, Hui;
Hou, Yanbing;
Shang, Huifang

Publication type:

Article

Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018, v. 19, n. 5/6, p. 446, doi. 10.1080/21678421.2018.1431787

By:

Cassereau, Julien;
Codron, Philippe;
Veyrat-Durebex, Charlotte;
Kane, Selma;
Procaccio, Vincent;
Verny, Christophe;
Lenaers, Guy;
Reynier, Pascal;
Chevrollier, Arnaud;
Blasco, Hélène;
Letournel, Franck;
Vourc'h, Patrick

Publication type:

Article

Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018, v. 19, n. 5/6, p. 419, doi. 10.1080/21678421.2018.1432659

By:

Zhang, Hang;
Chen, Siyu;
Ren, Yuting;
Liu, Wenxiu;
Zhang, Xiaolan;
Huang, Xusheng;
Cai, Wanshi;
Liang, Jialong;
Sun, Zhongsheng;
Wang, Zhanjun

Publication type:

Article

ALSUntangled 42: Elysium health’s “basis”.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018, v. 19, n. 3/4, p. 317, doi. 10.1080/21678421.2017.1373978

By:

Bedlack, Richard;
The ALSUntangled Group

Publication type:

Article

Corrigendum.

Published in:: 2018
Publication type:: Correction Notice

Reconsidering the causality of TIA1 mutations in ALS.

Published in:

2018

By:

van der Spek, Rick A.;
van Rheenen, Wouter;
Pulit, Sara L.;
Kenna, Kevin P.;
Ticozzi, Nicola;
Kooyman, Maarten;
Mclaughlin, Russell L.;
Moisse, Matthieu;
van Eijk, Kristel R.;
van Vugt, Joke J. F. A.;
Iacoangeli, Alfredo;
Andersen, Peter;
Nazli Basak, A.;
Blair, Ian;
de Carvalho, Mamede;
Chio, Adriano;
Corcia, Philippe;
Couratier, Phillipe;
Drory, Vivian E.;
Glass, Jonathan D.

Publication type:

Editorial

Poster Contents Page.

Published in:: 2017
Publication type:: Table of Contents

Theme 8 Imaging.

Published in:: 2017
Publication type:: Abstract

Theme 5 Epidemiology.

Published in:: 2017
Publication type:: Abstract

Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017, v. 18, n. 7/8, p. 475, doi. 10.1080/21678421.2017.1332079

By:

Crook, Ashley;
Williams, Kelly;
Adams, Lorel;
Blair, Ian;
Rowe, Dominic B.

Publication type:

Article

Theme 9 Clinical trials.

Published in:: 2017
Publication type:: Abstract

Theme 6 Biomarkers.

Published in:: 2017
Publication type:: Abstract

Theme 4 Human cell biology and pathology.

Published in:: 2017
Publication type:: Abstract

Theme 3 In vivo experimental models.

Published in:: 2017
Publication type:: Abstract

Theme 1 Genetics and genomics.

Published in:: 2017
Publication type:: Abstract

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017, v. 18, n. 3/4, p. 298, doi. 10.1080/21678421.2016.1265564

By:

Corcia, Philippe;
Danel, Veronique;
Lacour, Arnaud;
Beltran, Stephane;
Andres, Christian;
Couratier, Philippe;
Blasco, Helene;
Vourc'h, Patrick

Publication type:

Article

Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017, v. 18, n. 3/4, p. 249, doi. 10.1080/21678421.2016.1254245

By:

Chadi, Gerson;
Maximino, Jessica Ruivo;
Jorge, Frederico Mennucci de Haidar;
Borba, Fabrício Castro de;
Gilio, Joyce Meire;
Callegaro, Dagoberto;
Lopes, Camila Galvão;
Santos, Samantha Nakamura Dos;
Rebelo, Gabriela Natania Sales

Publication type:

Article

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016, v. 17, n. 7/8/2016, p. 593, doi. 10.1080/21678421.2016.1213852

By:

Gaastra, Benjamin;
Shatunov, Aleksey;
Pulit, Sara;
Jones, Ashley R.;
Sproviero, William;
Gillett, Alexandra;
Chen, Zhongbo;
Kirby, Janine;
Fogh, Isabella;
Powell, John F.;
Leigh, P. Nigel;
Morrison, Karen E.;
Shaw, Pamela J.;
Shaw, Christopher E.;
van den Berg, Leonard H.;
Veldink, Jan H.;
Lewis, Cathryn M.;
Al-Chalabi, Ammar

Publication type:

Article

H46R SOD1 mutation is consistently associated with a relatively benign form of amyotrophic lateral sclerosis with slow progression.

Published in:

2016

By:

Zou, Zhang-Yu;
Liu, Ming-Sheng;
Li, Xiao-Guang;
Cui, Li-Ying

Publication type:

Case Study

Neuropsychological assessment in different King's clinical stages of amyotrophic lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016, v. 17, n. 3/4, p. 228, doi. 10.3109/21678421.2016.1143513

By:

Trojsi, Francesca;
Santangelo, Gabriella;
Caiazzo, Giuseppina;
Siciliano, Mattia;
Ferrantino, Teresa;
Piccirillo, Giovanni;
Femiano, Cinzia;
Cristillo, Viviana;
Monsurrò, Maria Rosaria;
Esposito, Fabrizio;
Tedeschi, Gioacchino

Publication type:

Article

Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016, v. 17, n. 3/4, p. 249, doi. 10.3109/21678421.2016.1143012

By:

Zou, Zhang-Yu;
Liu, Ming-Sheng;
Li, Xiao-Guang;
Cui, Li-Ying

Publication type:

Article

Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia.

Published in:

2016

By:

Vázquez-Costa, Juan F.;
Beltrán, Eva;
Sopena, Pablo;
Sabater, Ana;
Cardona, Fernando;
Vilchez, Juan J.;
Pérez-Tur, Jordi;
Sevilla, Teresa

Publication type:

Case Study

ALSUntangled No. 32: Gluten-free diet.

Published in:: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016, v. 17, n. 3/4, p. 307, doi. 10.3109/21678421.2015.1096496
Publication type:: Article

TUBA4A may not be a significant genetic factor in Chinese ALS patients.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016, v. 17, n. 1/2, p. 148, doi. 10.3109/21678421.2015.1074705

By:

Li, Jiao;
He, Ji;
Tang, Lu;
Chen, Lu;
Xu, Lianping;
Ma, Yan;
Zhang, Nan;
Fan, Dongsheng

Publication type:

Article

Theme 9 Genetics.

Published in:: 2015
Publication type:: Abstract

A revision of the El Escorial criteria - 2015.

Published in:

2015

By:

Ludolph, Albert;
Drory, Vivian;
Hardiman, Orla;
Nakano, Imaharu;
Ravits, John;
Robberecht, Wim;
Shefner, Jeremy

Publication type:

Editorial

No evidence of association between polymorphisms in four genes and sporadic amyotrophic lateral sclerosis in Han Chinese.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2015, v. 16, n. 3/4, p. 245, doi. 10.3109/21678421.2014.999790

By:

An, Ran;
Xi, Jing;
Yang, Xinglong;
Yao, Xiaoli;
Xu, Yanming

Publication type:

Article

Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALS.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 7/8, p. 581, doi. 10.3109/21678421.2014.907319

By:

Kariya, Shingo;
Sampson, Jacinda B.;
Northrop, Lesley E.;
Luccarelli, Christopher M.;
Naini, Ali B.;
Re, Diane B.;
Hirano, Michio;
Mitsumoto, Hiroshi

Publication type:

Article

Lack of association between APOE gene polymorphisms and amyotrophic lateral sclerosis: A comprehensive meta-analysis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 7/8, p. 551, doi. 10.3109/21678421.2014.918149

By:

Govone, Flora;
Vacca, Alessandro;
Rubino, Elisa;
Gai, Annalisa;
Boschi, Silvia;
Gentile, Salvatore;
Orsi, Laura;
Pinessi, Lorenzo;
Rainero, Innocenzo

Publication type:

Article

A major QTL on mouse chromosome 17 resulting in lifespan variability in SOD1-G93A transgenic mouse models of amyotrophic lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 7/8, p. 588, doi. 10.3109/21678421.2014.932381

By:

Sher, Roger B.;
Heiman-Patterson, Terry D.;
Blankenhorn, Elizabeth A.;
Jiang, Juliann;
Alexander, Guillermo;
Deitch, Jeffrey S.;
Cox, Gregory A.

Publication type:

Article

An autopsy case of familial amyotrophic lateral sclerosis with FUS R521G mutation.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 3/4, p. 305, doi. 10.3109/21678421.2014.881500

By:

Mochizuki, Yoko;
Kawata, Akihiro;
Hashimoto, Tomoyo;
Akiyama, Haruhiko;
Kawakami, Hideshi;
Komori, Takashi;
Oyanagi, Kiyomitsu;
Mizutani, Toshio;
Matsubara, Shiro

Publication type:

Article

ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 3/4, p. 309, doi. 10.3109/21678421.2014.896926

By:

Ma, Yan;
Tang, Lu;
Chen, Lu;
Zhang, Bin;
Deng, Pan;
Wang, Jingran;
Yang, Yi;
Liu, Rong;
Yang, Yan;
Ye, Shan;
Liu, Xiaolu;
Zhang, Huagang;
Fan, Dongsheng

Publication type:

Article

Epidemiological features of amyotrophic lateral sclerosis in a large clinic-based African American population.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 5/6, p. 334, doi. 10.3109/21678421.2013.770030

By:

Kazamel, Mohamed;
Cutter, Gary;
Claussen, Gwendolyn;
Alsharabati, Mohammad;
Oh, Shin J.;
Lu, Liang;
King, Peter H.

Publication type:

Article

The FIG4 gene does not play a major role in causing ALS in Italian patients.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 3/4, p. 228, doi. 10.3109/21678421.2012.760605

By:

Verdiani, Simonetta;
Origone, Paola;
Geroldi, Alessandro;
Bandettini Di Poggio, Monica;
Mantero, Vittorio;
Bellone, Emilia;
Mancardi, Gianluigi;
Caponnetto, Claudia;
Mandich, Paola

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

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

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

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

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 plasma microRNAs as a biomarker of sporadic Amyotrophic Lateral Sclerosis.

Published in:

Molecular Brain, 2015, v. 8, p. 1, doi. 10.1186/s13041-015-0161-7

By:

Ikuko Takahashi;
Yuka Hama;
Masaaki Matsushima;
Makoto Hirotani;
Takahiro Kano;
Hideki Hohzen;
Ichiro Yabe;
Jun Utsumi;
Hidenao Sasaki

Publication type:

Article

Up-regulation of neural and cell cycle-related microRNAs in brain of amyotrophic lateral sclerosis mice at late disease stage.

Published in:

Molecular Brain, 2015, v. 8, n. 1, p. 104, doi. 10.1186/s13041-015-0095-0

By:

Marcuzzo, Stefania;
Bonanno, Silvia;
Kapetis, Dimos;
Barzago, Claudia;
Cavalcante, Paola;
D'Alessandro, Sara;
Mantegazza, Renato;
Bernasconi, Pia

Publication type:

Article