Works matching Neurological disorders -- Genetic aspects

Results: 132

Genomic Medicine in Neurology.

Published in:

Apollo Medicine, 2023, v. 20, n. 2, p. 101, doi. 10.4103/am.am_57_23

By:

Menon, Kriti;
Agarwal, Divya;
Chaudhari, Dinesh;
Renjen, Pushpendra Nath

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

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

Molecular Basis of Generic Heterogeneity: Role of the Clinical Neurologist.

Published in:

Journal of Child Neurology, 1998, v. 13, n. 3, p. 122

By:

Rowland, Lewis P.

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

Epi4K: Gene discovery in 4,000 genomes.

Published in:: Epilepsia (Series 4), 2012, v. 53, n. 8, p. 1457, doi. 10.1111/j.1528-1167.2012.03511.x
Publication type:: Article

A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis.

Published in:

Clinical Genetics, 2016, v. 90, n. 6, p. 556, doi. 10.1111/cge.12851

By:

Wang, Y.;
Koh, K.;
Ichinose, Y.;
Yasumura, M.;
Ohtsuka, T.;
Takiyama, Y.

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

A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 873, doi. 10.1038/sj.ejhg.5200729

By:

del Giudice, Emanuele Miraglia;
Coppola, Giangennaro;
Bellini, Giulia;
Cirillo, Grazia;
Scuccimarra, Goffredo;
Pascotto, Antonio

Publication type:

Article

Gene Expression Profiling for Discovery of Novel Targets in Human Traumatic Brain Injury.

Published in:

2011

By:

Barr, Taura L.;
Alexander, Sheila;
Conley, Yvette

Publication type:

Journal Article

Transduced Wild-Type but Not P301S Mutated Human Tau Shows Hyperphosphorylation in Transgenic Mice Overexpressing A30P Mutated Human Alpha-Synuclein.

Published in:

Neurodegenerative Diseases, 2013, v. 12, n. 2, p. 91, doi. 10.1159/000341596

By:

Oksman, M.;
Wisman, L.a.;
Jiang, H.;
Miettinen, P.;
Kirik, D.;
Tanila, H.

Publication type:

Article

The Sequence-Specific Transcription Factor c-Jun Targets Cockayne Syndrome Protein B to Regulate Transcription and Chromatin Structure.

Published in:

PLoS Genetics, 2014, v. 10, n. 4, p. 1, doi. 10.1371/journal.pgen.1004284

By:

Lake, Robert J.;
Boetefuer, Erica L.;
Tsai, Pei-Fang;
Jeong, Jieun;
Choi, Inchan;
Won, Kyoung-Jae;
Fan, Hua-Ying

Publication type:

Article

Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.

Published in:

Journal of Clinical Investigation, 2013, v. 123, n. 5, p. 1964, doi. 10.1172/JCI66387

By:

Mahammad, Saleemulla;
Prasanna Murthy, S. N.;
Didonna, Alessandro;
Grin, Boris;
Israeli, Eitan;
Perrot, Rodolphe;
Bomont, Pascale;
Julien, Jean-Pierre;
Kuczmarski, Edward;
Opal, Puneet;
Goldman, Robert D.

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

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

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

Noncanonical splice‐site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies.

Published in:

Journal of the Peripheral Nervous System, 2023, v. 28, n. 3, p. 513, doi. 10.1111/jns.12558

By:

Kawamoto, Norifumi;
Hamada, Yuichi;
Kobayashi, Shunsuke;
Naruse, Hiroya;
Ishiura, Hiroyuki;
Matsukawa, Takashi;
Mitsui, Jun;
Tsuji, Shoji;
Sonoo, Masahiro;
Toda, Tatsushi

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

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

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

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

Síndrome de Moebius Informe de un caso clínico.

Published in:

Revista Medica del IMSS, 2013, v. 51, n. 5, p. 584

By:

Palmer-Morales, Yusvisaret;
Zárate-Márquez, Rosario Elena;
Prince-Vélez, Roberto;
González-Méndez, Roberto;
Zamarripa-Sandoval, Thania Ayerim;
Verdugo-Salazar, Nahim;
Torres-Félix, Victor Gabriel;
Salcido-Daniel, Remigio;
Valdez-Hernández, Pedro;
Morfín-Vela, Andrés

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

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

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

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

News Briefs.

Published in:: 2013
Publication type:: Journal 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

Family History of Mental and Neurological Disorders and Risk of Autism.

Published in:

JAMA Network Open, 2019, v. 2, n. 3, p. e190154, doi. 10.1001/jamanetworkopen.2019.0154

By:

Xie, Sherlly;
Karlsson, Håkan;
Dalman, Christina;
Widman, Linnea;
Rai, Dheeraj;
Gardner, Renee M.;
Magnusson, Cecilia;
Schendel, Diana E.;
Newschaffer, Craig J.;
Lee, Brian K.

Publication type:

Article

Complete mitochondrial genome sequence and mutations of the neuropathic pain model inbred C57BL/6 mice strain.

Published in:

Mitochondrial DNA. Part A, 2016, v. 27, n. 6, p. 4134, doi. 10.3109/19401736.2014.1003879

By:

Meng, Jian;
Tian, Haitao

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

Hospitalisation and mortality among privately insured individuals with COVID-19 in the United States: The role of intellectual disabilities and Neurogenetic disorders.

Published in:

Journal of Intellectual Disability Research, 2024, v. 68, n. 6, p. 573, doi. 10.1111/jir.13116

By:

Davis, A.;
Copeland-Linder, N.;
Phuong, K.;
Belcher, H.;
Eck, K. van

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

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

Arch neurol.

Published in:: 1995
Publication type:: Abstract

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