Literature DB >> 20955921

Neurogenetics: advancing the "next-generation" of brain research.

Huda Y Zoghbi1, Stephen T Warren.   

Abstract

There can be little doubt that genetics has transformed our understanding of mechanisms mediating brain disorders. The last two decades have brought tremendous progress in terms of accurate molecular diagnoses and knowledge of the genes and pathways that are involved in a large number of neurological and psychiatric disorders. Likewise, new methods and analytical approaches, including genome array studies and "next-generation" sequencing technologies, are bringing us deeper insights into the subtle complexities of the genetic architecture that determines our risks for these disorders. As we now seek to translate these discoveries back to clinical applications, a major challenge for the field will be in bridging the gap between genes and biology. In this Overview of Neuron's special review issue on neurogenetics, we reflect on progress made over the last two decades and highlight the challenges as well as the exciting opportunities for the future.
Copyright © 2010 Elsevier Inc. All rights reserved.

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Year:  2010        PMID: 20955921      PMCID: PMC2982747          DOI: 10.1016/j.neuron.2010.10.015

Source DB:  PubMed          Journal:  Neuron        ISSN: 0896-6273            Impact factor:   17.173


  87 in total

1.  Genome-wide analysis of DNA copy-number changes using cDNA microarrays.

Authors:  J R Pollack; C M Perou; A A Alizadeh; M B Eisen; A Pergamenschikov; C F Williams; S S Jeffrey; D Botstein; P O Brown
Journal:  Nat Genet       Date:  1999-09       Impact factor: 38.330

2.  Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease.

Authors:  A Yamamoto; J J Lucas; R Hen
Journal:  Cell       Date:  2000-03-31       Impact factor: 41.582

Review 3.  Shattuck lecture--neurodegenerative diseases and prions.

Authors:  S B Prusiner
Journal:  N Engl J Med       Date:  2001-05-17       Impact factor: 91.245

4.  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

Authors:  R E Amir; I B Van den Veyver; M Wan; C Q Tran; U Francke; H Y Zoghbi
Journal:  Nat Genet       Date:  1999-10       Impact factor: 38.330

5.  Altered synaptic plasticity in a mouse model of fragile X mental retardation.

Authors:  Kimberly M Huber; Sean M Gallagher; Stephen T Warren; Mark F Bear
Journal:  Proc Natl Acad Sci U S A       Date:  2002-05-28       Impact factor: 11.205

6.  Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

Authors:  Annachiara De Sandre-Giovannoli; Malika Chaouch; Serguei Kozlov; Jean-Michel Vallat; Meriem Tazir; Nadia Kassouri; Pierre Szepetowski; Tarik Hammadouche; Antoon Vandenberghe; Colin L Stewart; Djamel Grid; Nicolas Lévy
Journal:  Am J Hum Genet       Date:  2002-01-17       Impact factor: 11.025

7.  Identification of genes that modify ataxin-1-induced neurodegeneration.

Authors:  P Fernandez-Funez; M L Nino-Rosales; B de Gouyon; W C She; J M Luchak; P Martinez; E Turiegano; J Benito; M Capovilla; P J Skinner; A McCall; I Canal; H T Orr; H Y Zoghbi; J Botas
Journal:  Nature       Date:  2000-11-02       Impact factor: 49.962

8.  A forkhead-domain gene is mutated in a severe speech and language disorder.

Authors:  C S Lai; S E Fisher; J A Hurst; F Vargha-Khadem; A P Monaco
Journal:  Nature       Date:  2001-10-04       Impact factor: 49.962

9.  Mitochondrial pathology and apoptotic muscle degeneration in Drosophila parkin mutants.

Authors:  Jessica C Greene; Alexander J Whitworth; Isabella Kuo; Laurie A Andrews; Mel B Feany; Leo J Pallanck
Journal:  Proc Natl Acad Sci U S A       Date:  2003-03-17       Impact factor: 11.205

10.  Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

Authors:  G Bonne; M R Di Barletta; S Varnous; H M Bécane; E H Hammouda; L Merlini; F Muntoni; C R Greenberg; F Gary; J A Urtizberea; D Duboc; M Fardeau; D Toniolo; K Schwartz
Journal:  Nat Genet       Date:  1999-03       Impact factor: 38.330

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  22 in total

1.  Modular genetic control of sexually dimorphic behaviors.

Authors:  Xiaohong Xu; Jennifer K Coats; Cindy F Yang; Amy Wang; Osama M Ahmed; Maricruz Alvarado; Tetsuro Izumi; Nirao M Shah
Journal:  Cell       Date:  2012-02-03       Impact factor: 41.582

2.  SHC2 gene copy number in multiple system atrophy (MSA).

Authors:  Marcus C Ferguson; Emily M Garland; Lora Hedges; Bethany Womack-Nunley; Rizwan Hamid; John A Phillips; Cyndya A Shibao; Satish R Raj; Italo Biaggioni; David Robertson
Journal:  Clin Auton Res       Date:  2013-10-30       Impact factor: 4.435

3.  Oxidative stress in Rett syndrome: natural history, genotype, and variants.

Authors:  Silvia Leoncini; Claudio De Felice; Cinzia Signorini; Alessandra Pecorelli; Thierry Durand; Giuseppe Valacchi; Lucia Ciccoli; Joussef Hayek
Journal:  Redox Rep       Date:  2011       Impact factor: 4.412

Review 4.  Sleep as a translationally-relevant endpoint in studies of autism spectrum disorder (ASD).

Authors:  Galen Missig; Christopher J McDougle; William A Carlezon
Journal:  Neuropsychopharmacology       Date:  2019-05-06       Impact factor: 7.853

Review 5.  Drosophila as a model to study mitochondrial dysfunction in Parkinson's disease.

Authors:  Ming Guo
Journal:  Cold Spring Harb Perspect Med       Date:  2012-11-01       Impact factor: 6.915

6.  Education of a child neurologist: developmental neuroscience relevant to child neurology.

Authors:  Michael V Johnston
Journal:  Semin Pediatr Neurol       Date:  2011-06       Impact factor: 1.636

Review 7.  Genetic manipulations of mutant huntingtin in mice: new insights into Huntington's disease pathogenesis.

Authors:  C Y Daniel Lee; Jeffrey P Cantle; X William Yang
Journal:  FEBS J       Date:  2013-07-31       Impact factor: 5.542

8.  Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder.

Authors:  Mustafa Dogan; Kerem Teralı; Recep Eroz; Huseyin Demirci; Kenan Kocabay
Journal:  Mol Biol Rep       Date:  2021-01-03       Impact factor: 2.316

9.  Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.

Authors:  Tyler Mark Pierson; David A Adams; Thomas Markello; Gretchen Golas; Sandra Yang; Murat Sincan; Dimitre R Simeonov; Karin Fuentes Fajardo; Nancy F Hansen; Praveen F Cherukuri; Pedro Cruz; Jamie K Teer; James C Mullikin; Cornelius F Boerkoel; William A Gahl; Cynthia J Tifft
Journal:  Neurology       Date:  2012-06-06       Impact factor: 9.910

10.  CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Authors:  Claudia Soler-Alfonso; Claudia M B Carvalho; Jun Ge; Erin K Roney; Patricia I Bader; Katarzyna E Kolodziejska; Rachel M Miller; James R Lupski; Pawel Stankiewicz; Sau Wai Cheung; Weimin Bi; Christian P Schaaf
Journal:  Eur J Hum Genet       Date:  2014-01-15       Impact factor: 4.246

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