Exome-wide rare variant analysis in familial essential tremor.
Monica Diez-Fairen,Gabrielle Houle,Sara Ortega-Cubero,Sara Bandres-Ciga,Ignacio Alvarez,Maria Carcel,Laura Ibanez,Maria Victoria Fernandez,John P. Budde,Jean-Rémi Trotta,Raul Tonda,Jessica X. Chong,Michael J. Bamshad,Deborah A. Nickerson,Miquel Aguilar,Juan Pablo Tartari,Alexandre Gironell,Elena García-Martín,José A. G. Agúndez,Hortensia Alonso-Navarro,Félix Javier Jiménez-Jiménez,Manel Fernández,Francesc Valldeoriola,María José Martí,Eduard Tolosa,F. Coria,Maria A. Pastor,Carles Vilariño-Güell,Alex Rajput,Patrick A. Dion,Carlos Cruchaga,Guy A. Rouleau,Pau Pastor +32 more
TLDR
This study suggests that rare deleterious coding variants that markedly increase susceptibility to ET are likely to be found in many genes.About:
This article is published in Parkinsonism & Related Disorders.The article was published on 2021-01-01 and is currently open access. It has received 12 citations till now. The article focuses on the topics: Exome & Exome sequencing.read more
Citations
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Journal ArticleDOI
Coiled-Coil Domain-Containing (CCDC) Proteins: Functional Roles in General and Male Reproductive Physiology.
TL;DR: The coiled-coil domain-containing (CCDC) proteins have been implicated in a variety of physiological and pathological processes as discussed by the authors, such as gametogenesis, embryonic development, hematopoiesis, angiogenesis, and ciliary development.
Journal ArticleDOI
Genomic Markers for Essential Tremor.
Félix Javier Jiménez-Jiménez,Hortensia Alonso-Navarro,Elena García-Martín,Ignacio Alvarez,Pau Pastor,José A. G. Agúndez +5 more
TL;DR: The search for responsible genes for essential tremor (ET) is still ongoing as discussed by the authors, and the case-control association studies performed for candidate variants have not convincingly linked any gene with the risk for ET, suggesting that some can be private polymorphisms.
Journal ArticleDOI
Parkinsonism and tremor syndromes.
TL;DR: Jankovic et al. as discussed by the authors discussed the possibility of essential tremor subtypes associated with Parkinson's disease and other neurological disorders, including dystonia and ataxia.
Journal ArticleDOI
Parkinsonism and tremor syndromes
TL;DR: Jankovic et al. as mentioned in this paper discussed the possibility of essential tremor subtypes associated with Parkinson's disease and other neurological disorders, including dystonia and ataxia.
Journal Article
Familial Aggregation and Co-Aggregation of Essential Tremor and Parkinson’s Disease (P4.302)
TL;DR: Evidence is provided for the aggregation of ET in ET families and PD in PD families, and the familial co-aggregation of ET and PD.
References
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Journal ArticleDOI
Consensus statement of the Movement Disorder Society on tremor
TL;DR: The classification of tremor is based on the distinction between rest, postural, simple kinetic, and intention tremor (tremor during target-directed movements) as mentioned in this paper.
Journal ArticleDOI
Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease.
Kirk E. Lohmueller,Celeste Leigh Pearce,Malcolm C. Pike,Eric S. Lander,Joel N. Hirschhorn,Joel N. Hirschhorn +5 more
TL;DR: It is concluded that there are probably many common variants in the human genome with modest but real effects on common disease risk, and that studies using large samples will convincingly identify such variants.
Journal ArticleDOI
Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society
Kailash P. Bhatia,Peter G. Bain,Nin Bajaj,Rodger J. Elble,Mark Hallett,Elan D. Louis,Jan Raethjen,Maria Stamelou,Claudia M. Testa,Guenther Deuschl +9 more
TL;DR: Consensus criteria for classifying tremor disorders were published by the International Parkinson and Movement Disorder Society in 1998 but subsequent advances with regard to essential tremor, tremor associated with dystonia, and other monosymptomatic and indeterminate tremors make a significant revision necessary.
Journal ArticleDOI
How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor.
TL;DR: The worldwide prevalence of ET in population‐based epidemiological studies is reviewed, as precisely as possible an estimate of disease prevalence is derived, and trends and important differences across studies are examined.
Journal ArticleDOI
Demographic history and rare allele sharing among human populations
Simon Gravel,Brenna M. Henn,Ryan N. Gutenkunst,Amit Indap,Gabor T. Marth,Andrew G. Clark,Fuli Yu,Richard A. Gibbs,Carlos Bustamante +8 more
TL;DR: It is found that the majority of human genomic variable sites are rare and exhibit little sharing among diverged populations, emphasizing that replication of disease association for specific rare genetic variants across diverging populations must overcome both reduced statistical power because of rarity and higher population divergence.
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