Works matching Neurological disorders -- Genetic aspects

Results: 130

Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.

Published in:

Acta Neuropathologica, 2019, v. 137, n. 1, p. 71, doi. 10.1007/s00401-018-1925-9

By:

Geier, Ethan G.;
Bourdenx, Mathieu;
Storm, Nadia J.;
Cochran, J. Nicholas;
Sirkis, Daniel W.;
Hwang, Ji-Hye;
Bonham, Luke W.;
Ramos, Eliana Marisa;
Diaz, Antonio;
Van Berlo, Victoria;
Dokuru, Deepika;
Nana, Alissa L.;
Karydas, Anna;
Balestra, Maureen E.;
Huang, Yadong;
Russo, Silvia P.;
Spina, Salvatore;
Grinberg, Lea T.;
Seeley, William W.;
Myers, Richard M.

Publication type:

Article

P01-182 - Genetic syndromes associated with autism

Published in:

2010

By:

Cozaru, C.G.;
Papari, C.-A.;
Papari, A.

Publication type:

Abstract

Reorganization and Stability for Motor and Language Areas Using Cortical Stimulation: Case Example and Review of the Literature.

Published in:

2013

By:

Serafini, Sandra;
Komisarow, Jordan M.;
Gallentine, William;
Mikati, Mohamad A.;
Bonner, Melanie J.;
Kranz, Peter G.;
Haglund, Michael M.;
Grant, Gerald

Publication type:

Case Study

The Ability of the Eating Assessment Tool-10 to Detect Aspiration in Patients With Neurological Disorders.

Published in:

Journal of Neurogastroenterology & Motility, 2017, v. 23, n. 4, p. 550, doi. 10.5056/jnm16165

By:

Arslan, Selen Serel;
Demir, Numan;
Kılınç, Hasan E.;
Karaduman, Aynur A.

Publication type:

Article

Clinical and Genetic Characteristics of Leukodystrophies in Africa.

Published in:

Journal of Neurosciences in Rural Practice, 2017, v. 8, p. 89, doi. 10.4103/jnrp.jnrp_511_16

By:

Amin, Mutaz;
Elsayed, Liena;
Ahmed, Ammar Eltahir

Publication type:

Article

Effects of STAT3 inhibitors on neural functional recovery after spinal cord injury in rats.

Published in:

BioScience Trends, 2016, v. 10, n. 6, p. 460, doi. 10.5582/bst.2016.01160

By:

Meng Cui;
Xinlong Ma;
Jie Sun;
Jinquan He;
Lin Shen;
Fangguo Li

Publication type:

Article

The Base Hit: Neurological Diseases and Genetic Susceptibilities to Pesticide Exposures.

Published in:

Environmental Health Perspectives, 2024, v. 132, n. 9, p. 094001-1, doi. 10.1289/EHP15412

By:

Arnold, Carrie

Publication type:

Article

Data-Driven Characterization of Genetic Variability in Disease Pathways and Pesticide-Induced Nervous System Disease in the United States Population.

Published in:

Environmental Health Perspectives, 2024, v. 132, n. 5, p. 057003-1, doi. 10.1289/EHP14108

By:

Kosnik, Marissa B.;
Antczak, Philipp;
Fantke, Peter

Publication type:

Article

Real-Time Imaging Reveals Augmentation of Glutamate-Induced Ca2+ Transients by the NO-cGMP Pathway in Cerebellar Granule Neurons.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 8, p. 2185, doi. 10.3390/ijms19082185

By:

Paolillo, Michael;
Peters, Stefanie;
Schramm, Andrea;
Schlossmann, Jens;
Feil, Robert

Publication type:

Article

P2X and P2Y Receptors--Role in the Pathophysiology of the Nervous System.

Published in:

International Journal of Molecular Sciences, 2014, v. 15, n. 12, p. 23772, doi. 10.3390/ijms151223672

By:

Puchałowicz, Kamila;
Tarnowski, Maciej;
Baranowska-Bosiacka, Irena;
Chlubek, Dariusz;
Dziedziejko, Violetta

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

Aberrant DNA methylation in lymphocytes of children with neurodevelopmental disorders.

Published in:

Russian Journal of Genetics, 2017, v. 53, n. 11, p. 1243, doi. 10.1134/S1022795417110072

By:

Naumova, O.;
Rychkov, S.;
Odintsova, V.;
Kornilov, S.;
Shabalina, E.;
Antsiferova, D.;
Zhukova, O.;
Grigorenko, E.

Publication type:

Article

RNAseq analysis for the diagnosis of muscular dystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2016, v. 3, n. 1, p. 55, doi. 10.1002/acn3.267

By:

Gonorazky, Hernan;
Liang, Minggao;
Cummings, Beryl;
Lek, Monkol;
Micallef, Johann;
Hawkins, Cynthia;
Basran, Raveen;
Cohn, Ronald;
Wilson, Michael D.;
MacArthur, Daniel;
Marshall, Christian R.;
Ray, Peter N.;
Dowling, James J.

Publication type:

Article

Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.

Published in:

Translational Neurodegeneration, 2017, v. 6, p. 1, doi. 10.1186/s40035-017-0079-3

By:

Guo-hua Zhao;
Xiao-min Liu

Publication type:

Article

CASE 2 DIAGNOSIS: DOPA-RESPONSIVE DYSTONIA DUE TO GTP CYCLOHYDROLASE 1 DEFICIENCY.

Published in:

2012

By:

Carter, Melissa T.;
Fehlings, Darcy

Publication type:

Case Study

Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders.

Published in:

Iranian Journal of Child Neurology, 2018, v. 12, n. 1, p. 7

By:

SHAKIBA, Marjan;
KERAMATIPOUR, Mohammad

Publication type:

Article

In Vivo Analysis of a Gain-of-Function Mutation Confirms Unc18/Munc18's Role in Priming.

Published in:

Journal of Neuroscience, 2018, v. 38, n. 5, p. 1055, doi. 10.1523/JNEUROSCI.3068-17.2017

By:

Parra, Leonardo A.

Publication type:

Article

Emerging Evidence for a Direct Link between EAAT-Associated Anion Channels and Neurological Disorders.

Published in:

Journal of Neuroscience, 2017, v. 37, n. 2, p. 241, doi. 10.1523/JNEUROSCI.2947-16.2017

By:

Gonzalez-Suarez, Aneysis D.;
Nash, Abigail I.;
Garcia-Olivares, Jennie;
Torres-Salazar, Delany

Publication type:

Article

miR-27b shapes the presynaptic transcriptome and influences neurotransmission by silencing the polycomb group protein Bmi1.

Published in:

BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3139-7

By:

Poon, Vivian Y.;
Minxia Gu;
Fang Ji;
VanDongen, Antonius M.;
Fivaz, Marc

Publication type:

Article

Psychoactive pharmaceuticals at environmental concentrations induce in vitro gene expression associated with neurological disorders.

Published in:

BMC Genomics, 2016, v. 17, p. 277, doi. 10.1186/s12864-016-2784-1

By:

Kaushik, Gaurav;
Yu Xia;
Luobin Yang;
Thomas, Michael A.

Publication type:

Article

Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia.

Published in:

2012

By:

Rance, Gary;
Corben, Louise;
Delatycki, Martin

Publication type:

Letter

A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.

Published in:

Journal of Neurology, 2008, v. 255, n. 9, p. 1417, doi. 10.1007/s00415-008-0896-5

By:

Zubair, S.;
Holland, N.;
Beson, B.;
Parke, J.;
Prodan, C.

Publication type:

Article

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease.

Published in:

Nature Reviews Neuroscience, 2012, v. 13, n. 7, p. 453, doi. 10.1038/nrn3271

By:

Bras, Jose;
Guerreiro, Rita;
Hardy, John

Publication type:

Article

Sustained expression of MCP-1 by low wall shear stress loading concomitant with turbulent flow on endothelial cells of intracranial aneurysm.

Published in:

Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0318-3

By:

Tomohiro Aoki;
Kimiko Yamamoto;
Miyuki Fukuda;
Yuji Shimogonya;
Shunichi Fukuda;
Shuh Narumiya

Publication type:

Article

Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0225-z

By:

Malik, Anna R.;
Liszewska, Ewa;
Skalecka, Agnieszka;
Urbanska, Malgorzata;
Iyer, Anand M.;
Swiech, Lukasz J.;
Perycz, Malgorzata;
Parobczak, Kamil;
Pietruszka, Patrycja;
Zarebska, Malgorzata M.;
Macias, Matylda;
Kotulska, Katarzyna;
Borkowska, Julita;
Grajkowska, Wieslawa;
Tyburczy, Magdalena E.;
Jozwiak, Sergiusz;
Kwiatkowski, David J.;
Aronica, Eleonora;
Jaworski, Jacek

Publication type:

Article

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0

By:

Ruggieri, Alessandra;
Brancati, Francesco;
Zanotti, Simona;
Maggi, Lorenzo;
Pasanisi, Maria Barbara;
Saredi, Simona;
Terracciano, Chiara;
Antozzi, Carlo;
D'Apice, Maria Rosaria;
Sangiuolo, Federica;
Novelli, Giuseppe;
Marshall, Christian R.;
Scherer, Stephen W.;
Morandi, Lucia;
Federici, Luca;
Massa, Roberto;
Mora, Marina;
Minassian, Berge A.

Publication type:

Article

Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 18, p. 1867, doi. 10.1093/hmg/10.18.1867

By:

Lieuallen, Kimberly;
Pennacchio, Len A.;
Park, Morgan;
Myers, Richard M.;
Lennon, Gregory G.

Publication type:

Article

Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 107, doi. 10.1093/hmg/10.2.107

By:

Abel, Annette;
Walcott, Jessica;
Woods, JoAnne;
Duda, John;
Merry, Diane E.

Publication type:

Article

Fourteen and counting: unraveling trinucleotide repeat diseases.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 6, p. 909, doi. 10.1093/hmg/9.6.909

By:

Cummings, Christopher J.;
Zoghbi, Huda Y.

Publication type:

Article

French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1779, doi. 10.1093/hmg/8.9.1779

By:

Grewal, Raji P.;
Cancel, Geraldine;
Leeflang, Esther P.;
Durr, Alexandra;
McPeek, Mary Sara;
Draghinas, David;
Yao, Xiang;
Stevanin, Giovanni;
Alnot, Marie-Odile;
Brice, Alexis;
Arnheim, Norman

Publication type:

Article

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 7, p. 1245, doi. 10.1093/hmg/8.7.1245

By:

Warner, Laura E.;
Svaren, John;
Milbrandt, Jeffrey;
Lupski, James R.

Publication type:

Article

Adenovirus-mediated expression of mutant DRPLA proteins with expanded polyglutamine stretches in neuronally differentiated PC12 cells. Preferential intranuclear aggregate formation and apoptosis.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 6, p. 997, doi. 10.1093/hmg/8.6.997

By:

Sato, Aki;
Shimohata, Takayoshi;
Koide, Reiji;
Takano, Hiroki;
Sato, Toshiya;
Oyake, Mutsuo;
Igarashi, Shuichi;
Tanaka, Keiko;
Inuzuka, Takashi;
Nawa, Hiroyuki;
Tsuji, Shoji

Publication type:

Article

Functional Gait Disorders: Clinical presentations, Phenotypes and Implications for treatment.

Published in:

Brain Injury, 2023, v. 37, n. 5, p. 437, doi. 10.1080/02699052.2023.2165158

By:

Issak, Sara;
Kanaan, Richard;
Nielsen, Glenn;
Fini, Natalie A.;
Williams, Gavin

Publication type:

Article

Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review.

Published in:

Clinical Medicine Insights: Case Reports, 2020, v. 13, p. 1, doi. 10.1177/1179547620948666

By:

Elmas, Muhsin;
Gogus, Basak;
Solak, Mustafa

Publication type:

Article

Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review.

Published in:

Clinical Medicine Insights: Case Reports, 2020, p. 1, doi. 10.1177/1179547620948666

By:

Elmas, Muhsin;
Gogus, Basak;
Solak, Mustafa

Publication type:

Article

Immunotherapy targeting toll-like receptor 2 alleviates neurodegeneration in models of synucleinopathy by modulating α-synuclein transmission and neuroinflammation.

Published in:

Molecular Neurodegeneration, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13024-018-0276-2

By:

Kim, Changyoun;
Spencer, Brian;
Rockenstein, Edward;
Yamakado, Hodaka;
Mante, Michael;
Adame, Anthony;
Fields, Jerel Adam;
Masliah, Deborah;
Iba, Michiyo;
Lee, He-Jin;
Rissman, Robert A.;
Lee, Seung-Jae;
Masliah, Eliezer

Publication type:

Article

Nigral overexpression of alpha-synuclein in the absence of parkin enhances alpha-synuclein phosphorylation but does not modulate dopaminergic neurodegeneration.

Published in:

Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0017-8

By:

Van Rompuy, Anne-Sophie;
Oliveras-Salvá, Marusela;
Van Der Perren, Anke;
Corti, Olga;
Van Den Haute, Chris;
Baekelandt, Veerle

Publication type:

Article

Connecting Synaptic Activity with Plasticity-Related Gene Expression: From Molecular Mechanisms to Neurological Disorders.

Published in:

Neural Plasticity, 2016, p. 1, doi. 10.1155/2016/7149527

By:

Muñoz, Pablo;
Aschrafi, Armaz;
Moya, Pablo R.

Publication type:

Article

News Briefs.

Published in:: 2013
Publication type:: Journal Article

Occurrence of six-amino-acid motifs in three eukaryotic proteomes.

Published in:

Molecular Biology, 2012, v. 46, n. 1, p. 168, doi. 10.1134/S0026893312010128

By:

Lobanov, M.;
Bogatyreva, N.;
Galzitskaya, O.

Publication type:

Article

Human Molecular Genetics: Research in Medical Genomics and Ethnogenomics.

Published in:

Molecular Biology, 2004, v. 38, n. 1, p. 100, doi. 10.1023/B:MBIL.0000015145.23714.70

By:

Limborska, S. A.

Publication type:

Article

Noncoding RNAs and Base Modifications: Epigenomic Players Implicated in Neurological Disorders and Tumorigenesis.

Published in:

International Journal of Genomics, 2018, p. 1, doi. 10.1155/2018/9016018

By:

Li, Yujing;
Park, Changwon;
Jiang, Hong;
Li, Xuekun;
Vellón, Luciano

Publication type:

Article

The Kaleidoscope of Microglial Phenotypes.

Published in:

Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01753

By:

Dubbelaar, Marissa L.;
Kracht, Laura;
Eggen, Bart J. L.;
Boddeke, Erik W. G. M.

Publication type:

Article

Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1468, doi. 10.1038/ejhg.2015.23

By:

Paneque, Milena;
Sequeiros, Jorge;
Skirton, Heather

Publication type:

Article

Common gene-network signature of different neurological disorders and their potential implications to neuroAIDS.

Published in:

PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0181642

By:

Sagar, Vidya;
Pilakka-Kanthikeel, S.;
Martinez, Paola C.;
Atluri, V. S. R.;
Nair, M.

Publication type:

Article

Gene expression patterns associated with neurological disease in human HIV infection.

Published in:

PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0175316

By:

Sanna, Pietro Paolo;
Repunte-Canonigo, Vez;
Masliah, Eliezer;
Lefebvre, Celine

Publication type:

Article

Bevacizumab Exacerbates Paclitaxel-Induced Neuropathy: A Retrospective Cohort Study.

Published in:

PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168707

By:

Matsuoka, Ayumu;
Maeda, Osamu;
Mizutani, Takefumi;
Nakano, Yasuyuki;
Tsunoda, Nobuyuki;
Kikumori, Toyone;
Goto, Hidemi;
Ando, Yuichi

Publication type:

Article

Cross-Species Analysis of Gene Expression and Function in Prefrontal Cortex, Hippocampus and Striatum.

Published in:

PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164295

By:

Chen, Wei;
Xia, Xiayu;
Song, Nan;
Wang, Ying;
Zhu, Hua;
Deng, Wei;
Kong, Qi;
Pan, Xianmin;
Qin, Chuan

Publication type:

Article

Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.

Published in:

PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157258

By:

Cao, Binbin;
Yan, Huifang;
Guo, Mangmang;
Xie, Han;
Wu, Ye;
Gu, Qiang;
Xiao, Jiangxi;
Shang, Jing;
Yang, Yanling;
Xiong, Hui;
Niu, Zhengping;
Wu, Xiru;
Jiang, Yuwu;
Wang, Jingmin

Publication type:

Article

The future of genetic research on neurodegeneration.

Published in:

2010

By:

Van Broeckhoven, Christine

Publication type:

Opinion