Works matching Neurological disorders -- Genetic aspects

Results: 132

News Briefs.

Published in:: 2013
Publication type:: Journal Article

From the editors.

Published in:: Nature Reviews Genetics, 2010, v. 11, n. 4, p. 235, doi. 10.1038/nrg2780
Publication type:: Article

Animal models: Modifying MeCP2.

Published in:

Nature Reviews Genetics, 2008, v. 9, n. 11, p. 814, doi. 10.1038/nrg2475

By:

Swami, Meera

Publication type:

Article

Multifocal motor neuropathy is not associated with genetic variation in PTPN22, BANK1, Blk, FCGR2B, CD1A/E, and TAG-1 genes.

Published in:

Journal of the Peripheral Nervous System, 2011, v. 16, n. 3, p. 175, doi. 10.1111/j.1529-8027.2011.00354.x

By:

Vlam, Lotte;
Cats, Elisabeth A.;
Seelen, Meinie;
Van Vught, Paul W. J.;
Van Den Berg, Leonard H.;
Van Der Pol, W-Ludo

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

Functional Mechanisms of Microsatellite DNA in Eukaryotic Genomes.

Published in:

Genome Biology & Evolution, 2017, v. 9, n. 9, p. 2428, doi. 10.1093/gbe/evx164

By:

Bagshaw, Andrew T. M.

Publication type:

Article

Subjects at Risk for Genetic Late-Onset Neurological Diseases: Objective Knowledge.

Published in:

Public Health Genomics, 2017, v. 20, n. 3, p. 158, doi. 10.1159/000479292

By:

Leite, Ângela;
Leite, Fernanda;
Dinis, Maria alzira P.

Publication type:

Article

mitoLUHMES: An Engineered Neuronal Cell Line for the Analysis of the Motility of Mitochondria.

Published in:

Cellular & Molecular Neurobiology, 2017, v. 37, n. 6, p. 1055, doi. 10.1007/s10571-016-0438-0

By:

Stępkowski, Tomasz;
Męczyńska-Wielgosz, Sylwia;
Kruszewski, Marcin

Publication type:

Article

Morvan's syndrome and myasthenia gravis related to familial Mediterranean fever gene mutations.

Published in:

2016

By:

Junpei Koge;
Shintaro Hayashi;
Hiroyuki Murai;
Jun Yokoyama;
Yuri Mizuno;
Taira Uehara;
Naoyasu Ueda;
Osamu Watanabe;
Hiroshi Takashima;
Jun-ichi Kira;
Koge, Junpei;
Hayashi, Shintaro;
Murai, Hiroyuki;
Yokoyama, Jun;
Mizuno, Yuri;
Uehara, Taira;
Ueda, Naoyasu;
Watanabe, Osamu;
Takashima, Hiroshi;
Kira, Jun-Ichi

Publication type:

journal article

Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis.

Published in:

Journal of Neurology, 2000, v. 247, n. 7, p. 535, doi. 10.1007/s004150070153

By:

Vanopdenbosch, Ludo;
Dubois, Bénédicte;
D'Hooghe, Marie-Béatrice;
Meire, Françoise;
Carton, Herwig

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

Global and Site-Specific Changes in 5-Methylcytosine and 5-Hydroxymethylcytosine after Extended Post-mortem Interval.

Published in:

Frontiers in Genetics, 2016, p. 1, doi. 10.3389/fgene.2016.00120

By:

Gross, Jeffrey A.;
Nagy, Corina;
Lin, Li;
Bonneil, Éric;
Maheu, Marissa;
Thibault, Pierre;
Mechawar, Naguib;
Peng Jin;
Turecki, Gustavo

Publication type:

Article

Brain and retinal microglia in health and disease: An unrecognized target of the renin-angiotensin system.

Published in:

Clinical & Experimental Pharmacology & Physiology, 2013, v. 40, n. 8, p. 571, doi. 10.1111/1440-1681.12099

By:

McCarthy, Claudia A;
Widdop, Robert E;
Deliyanti, Devy;
Wilkinson‐Berka, Jennifer L

Publication type:

Article

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Published in:

PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0188869

By:

Ji, Haoran;
Li, Dongxiao;
Wu, Ye;
Zhang, Quanli;
Gu, Qiang;
Xie, Han;
Ji, Taoyun;
Wang, Huifang;
Zhao, Lu;
Zhao, Haijuan;
Yang, Yanling;
Feng, Hongchun;
Xiong, Hui;
Ji, Jinhua;
Yang, Zhixian;
Kou, Liping;
Li, Ming;
Bao, Xinhua;
Chang, Xingzhi;
Zhang, Yuehua

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

Gene expression profiles in neurological tissues during West Nile virus infection: a critical meta-analysis.

Published in:

BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-4914-4

By:

Kosch, Robin;
Delarocque, Julien;
Claus, Peter;
Becker, Stefanie C.;
Jung, Klaus

Publication type:

Article

N-terminal truncations of human bHLH transcription factor Twist1 leads to the formation of aggresomes.

Published in:

Molecular & Cellular Biochemistry, 2018, v. 439, n. 1/2, p. 75, doi. 10.1007/s11010-017-3137-3

By:

Govindarajalu, Gokulapriya;
Selvam, Murugan;
Palchamy, Elango;
Baluchamy, Sudhakar

Publication type:

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

Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta‐analyses.

Published in:

Pediatric Diabetes, 2022, v. 23, n. 6, p. 675, doi. 10.1111/pedi.13376

By:

de Gouveia Buff Passone, Caroline;
Giani, Elisa;
Vaivre‐Douret, Laurence;
Kariyawasam, Dulanjalee;
Berdugo, Marianne;
Garcin, Laure;
Beltrand, Jacques;
Bernardo, Wanderley Marques;
Polak, Michel

Publication type:

Article

Clinical 3-tesla FLAIR* MRI improves diagnostic accuracy in multiple sclerosis.

Published in:

Multiple Sclerosis Journal, 2016, v. 22, n. 12, p. 1578, doi. 10.1177/1352458515624975

By:

George, Ilena C.;
Sati, Pascal;
Absinta, Martina;
Cortese, Irene C. M.;
Sweeney, Elizabeth M.;
Shea, Colin D.;
Reich, Daniel S.

Publication type:

Article

Maternal polycystic ovary syndrome and risk of neuropsychiatric disorders in offspring: prenatal androgen exposure or genetic confounding?

Published in:

Psychological Medicine, 2020, v. 50, n. 4, p. 616, doi. 10.1017/S0033291719000424

By:

Cesta, Carolyn E.;
Öberg, Anna S.;
Ibrahimson, Abraham;
Yusuf, Ikram;
Larsson, Henrik;
Almqvist, Catarina;
D'Onofrio, Brian M.;
Bulik, Cynthia M.;
Fernández de la Cruz, Lorena;
Mataix-Cols, David;
Landén, Mikael;
Rosenqvist, Mina A.

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

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

Episodic neurological dysfunction in hereditary peripheral neuropathy.

Published in:

Annals of Indian Academy of Neurology, 2015, v. 18, n. 1, p. 111, doi. 10.4103/0972-2327.144314

By:

Kulkarni, Girish Baburao;
Mailankody, Pooja;
Isnwara, Pawanraj Palu;
Prasad, Chandrajit;
Mustare, Veerendrakumar

Publication type:

Article

The essential symbiosis of academic and clinical neurology.

Published in:

2018

By:

O'Callaghan, Finbar J.

Publication type:

Editorial

POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02024-5

By:

Florio, Caterina Angela;
Mirabella, Federica;
Prato, Adriana;
Longhitano, Andrea;
Barone, Rita;
Rizzo, Renata

Publication type:

Article

Isolated neurosarcoidosis in the medulla oblongata involving the fourth ventricle: a case report.

Published in:

British Journal of Neurosurgery, 2013, v. 27, n. 3, p. 393, doi. 10.3109/02688697.2012.741736

By:

Lee, J. H.;
Takai, K.;
Ota, M.;
Shimizu, T.;
Komori, T.;
Taniguchi, M.

Publication type:

Article

Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation.

Published in:

Children, 2024, v. 11, n. 5, p. 541, doi. 10.3390/children11050541

By:

Cipriano, Lorenzo;
Piscopo, Raffaele;
Aiello, Chiara;
Novelli, Antonio;
Iolascon, Achille;
Piscopo, Carmelo

Publication type:

Article

Cnidarian Nerve Nets and Neuromuscular Efficiency.

Published in:

Integrative & Comparative Biology, 2015, v. 55, n. 6, p. 1050, doi. 10.1093/icb/icv067

By:

Satterlie, Richard A.

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

Tandem repeat disorders.

Published in:

Evolution, Medicine & Public Health, 2019, v. 2019, n. 1, p. 17, doi. 10.1093/emph/eoz005

By:

Ryan, Calen P

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

A Point Mutation in a Herpesvirus Co-Determines Neuropathogenicity and Viral Shedding.

Published in:

Viruses (1999-4915), 2017, v. 9, n. 1, p. 6, doi. 10.3390/v9010006

By:

Franz, Mathias;
Goodman, Laura B.;
Van de Walle, Gerlinde R.;
Osterrieder, Nikolaus;
Greenwood, Alex D.

Publication type:

Article

Novel human ABCC9/SUR2 brain-expressed transcripts and an eQTL relevant to hippocampal sclerosis of aging.

Published in:

Journal of Neurochemistry, 2015, v. 134, n. 6, p. 1026, doi. 10.1111/jnc.13202

By:

Nelson, Peter T.;
Wang, Wang‐Xia;
Wilfred, Bernard R.;
Wei, Angela;
Dimayuga, James;
Huang, Qingwei;
Ighodaro, Eseosa;
Artiushin, Sergey;
Fardo, David W.

Publication type:

Article

In this Issue.

Published in:: Journal of Neurochemistry, 2014, v. 128, n. 2, p. iii, doi. 10.1111/jnc.12535
Publication type:: Article

Neurexins, Neuroligins and LRRTMs: synaptic adhesion getting fishy.

Published in:

Journal of Neurochemistry, 2011, v. 117, n. 5, p. 765, doi. 10.1111/j.1471-4159.2010.07141.x

By:

Wright, Gavin J.;
Washbourne, Philip

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

Guillian-Barre syndrome and variants: Antiganglioside antibodies.

Published in:

2017

By:

Murthy, J. M. K.

Publication type:

journal article

The prognosis of self-reported paresthesia and weakness in disc-related sciatica.

Published in:

European Spine Journal, 2013, v. 22, n. 11, p. 2488, doi. 10.1007/s00586-013-2871-9

By:

Grøvle, L.;
Haugen, A. J.;
Natvig, B.;
Brox, J. I.;
Grotle, M.

Publication type:

Article

Twins and T-cell responses.

Published in:

Nature, 1993, v. 364, n. 6434, p. 187, doi. 10.1038/364187a0

By:

Kotzin, Brian L.

Publication type:

Article

Triplet repeats on the rise.

Published in:

Nature, 1993, v. 364, n. 6432, p. 88, doi. 10.1038/364088a0

By:

Davies, Kevin

Publication type:

Article

Alteration in a new gene encoding a putative membrane-organizing protein causes...

Published in:

Nature, 1993, v. 363, n. 6429, p. 515, doi. 10.1038/363515a0

By:

Rouleau, Guy A.;
Merel, Philippe

Publication type:

Article

A gene for neurofibromatosis 2.

Published in:

Nature, 1993, v. 363, n. 6429, p. 495, doi. 10.1038/363495a0

By:

Kinzler, Kenneth W.;
Vogelstein, Bert

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

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