Literature DB >> 23571731

Genetic analysis in neurology: the next 10 years.

Alan Pittman1, John Hardy.   

Abstract

In recent years, neurogenetics research had made some remarkable advances owing to the advent of genotyping arrays and next-generation sequencing. These improvements to the technology have allowed us to determine the whole-genome structure and its variation and to examine its effect on phenotype in an unprecedented manner. The identification of rare disease-causing mutations has led to the identification of new biochemical pathways and has facilitated a greater understanding of the etiology of many neurological diseases. Furthermore, genome-wide association studies have provided information on how common genetic variability impacts on the risk for the development of various complex neurological diseases. Herein, we review how these technological advances have changed the approaches being used to study the genetic basis of neurological disease and how the research findings will be translated into clinical utility.

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Year:  2013        PMID: 23571731      PMCID: PMC4196640          DOI: 10.1001/jamaneurol.2013.2068

Source DB:  PubMed          Journal:  JAMA Neurol        ISSN: 2168-6149            Impact factor:   18.302


  29 in total

1.  alpha-Synuclein locus triplication causes Parkinson's disease.

Authors:  A B Singleton; M Farrer; J Johnson; A Singleton; S Hague; J Kachergus; M Hulihan; T Peuralinna; A Dutra; R Nussbaum; S Lincoln; A Crawley; M Hanson; D Maraganore; C Adler; M R Cookson; M Muenter; M Baptista; D Miller; J Blancato; J Hardy; K Gwinn-Hardy
Journal:  Science       Date:  2003-10-31       Impact factor: 47.728

Review 2.  Towards unveiling the genetics of neurodegenerative diseases.

Authors:  Christina M Lill; Lars Bertram
Journal:  Semin Neurol       Date:  2012-01-21       Impact factor: 3.420

Review 3.  Parkinson's disease.

Authors:  Bobby Thomas; M Flint Beal
Journal:  Hum Mol Genet       Date:  2007-10-15       Impact factor: 6.150

4.  Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.

Authors:  Vincenzo Bonifati; Patrizia Rizzu; Marijke J van Baren; Onno Schaap; Guido J Breedveld; Elmar Krieger; Marieke C J Dekker; Ferdinando Squitieri; Pablo Ibanez; Marijke Joosse; Jeroen W van Dongen; Nicola Vanacore; John C van Swieten; Alexis Brice; Giuseppe Meco; Cornelia M van Duijn; Ben A Oostra; Peter Heutink
Journal:  Science       Date:  2002-11-21       Impact factor: 47.728

5.  Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.

Authors:  Alexander Zimprich; Saskia Biskup; Petra Leitner; Peter Lichtner; Matthew Farrer; Sarah Lincoln; Jennifer Kachergus; Mary Hulihan; Ryan J Uitti; Donald B Calne; A Jon Stoessl; Ronald F Pfeiffer; Nadja Patenge; Iria Carballo Carbajal; Peter Vieregge; Friedrich Asmus; Bertram Müller-Myhsok; Dennis W Dickson; Thomas Meitinger; Tim M Strom; Zbigniew K Wszolek; Thomas Gasser
Journal:  Neuron       Date:  2004-11-18       Impact factor: 17.173

6.  VPS35 mutations in Parkinson disease.

Authors:  Carles Vilariño-Güell; Christian Wider; Owen A Ross; Justus C Dachsel; Jennifer M Kachergus; Sarah J Lincoln; Alexandra I Soto-Ortolaza; Stephanie A Cobb; Greggory J Wilhoite; Justin A Bacon; Bahareh Behrouz; Heather L Melrose; Emna Hentati; Andreas Puschmann; Daniel M Evans; Elizabeth Conibear; Wyeth W Wasserman; Jan O Aasly; Pierre R Burkhard; Ruth Djaldetti; Joseph Ghika; Faycal Hentati; Anna Krygowska-Wajs; Tim Lynch; Eldad Melamed; Alex Rajput; Ali H Rajput; Alessandra Solida; Ruey-Meei Wu; Ryan J Uitti; Zbigniew K Wszolek; François Vingerhoets; Matthew J Farrer
Journal:  Am J Hum Genet       Date:  2011-07-15       Impact factor: 11.025

7.  Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

Authors:  Chuong B Do; Joyce Y Tung; Elizabeth Dorfman; Amy K Kiefer; Emily M Drabant; Uta Francke; Joanna L Mountain; Samuel M Goldman; Caroline M Tanner; J William Langston; Anne Wojcicki; Nicholas Eriksson
Journal:  PLoS Genet       Date:  2011-06-23       Impact factor: 5.917

8.  A comparison of cataloged variation between International HapMap Consortium and 1000 Genomes Project data.

Authors:  Carrie C Buchanan; Eric S Torstenson; William S Bush; Marylyn D Ritchie
Journal:  J Am Med Inform Assoc       Date:  2012 Mar-Apr       Impact factor: 4.497

9.  Genome-wide association study reveals genetic risk underlying Parkinson's disease.

Authors:  Javier Simón-Sánchez; Claudia Schulte; Jose M Bras; Manu Sharma; J Raphael Gibbs; Daniela Berg; Coro Paisan-Ruiz; Peter Lichtner; Sonja W Scholz; Dena G Hernandez; Rejko Krüger; Monica Federoff; Christine Klein; Alison Goate; Joel Perlmutter; Michael Bonin; Michael A Nalls; Thomas Illig; Christian Gieger; Henry Houlden; Michael Steffens; Michael S Okun; Brad A Racette; Mark R Cookson; Kelly D Foote; Hubert H Fernandez; Bryan J Traynor; Stefan Schreiber; Sampath Arepalli; Ryan Zonozi; Katrina Gwinn; Marcel van der Brug; Grisel Lopez; Stephen J Chanock; Arthur Schatzkin; Yikyung Park; Albert Hollenbeck; Jianjun Gao; Xuemei Huang; Nick W Wood; Delia Lorenz; Günther Deuschl; Honglei Chen; Olaf Riess; John A Hardy; Andrew B Singleton; Thomas Gasser
Journal:  Nat Genet       Date:  2009-11-15       Impact factor: 38.330

10.  Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.

Authors:  Coro Paisán-Ruíz; Shushant Jain; E Whitney Evans; William P Gilks; Javier Simón; Marcel van der Brug; Adolfo López de Munain; Silvia Aparicio; Angel Martínez Gil; Naheed Khan; Janel Johnson; Javier Ruiz Martinez; David Nicholl; Itxaso Martí Carrera; Amets Saénz Pena; Rohan de Silva; Andrew Lees; José Félix Martí-Massó; Jordi Pérez-Tur; Nick W Wood; Andrew B Singleton
Journal:  Neuron       Date:  2004-11-18       Impact factor: 17.173

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  4 in total

Review 1.  Drosophila and experimental neurology in the post-genomic era.

Authors:  Joshua M Shulman
Journal:  Exp Neurol       Date:  2015-03-24       Impact factor: 5.330

2.  From the genetic code to neuromics.

Authors:  Roger N Rosenberg
Journal:  JAMA Neurol       Date:  2013-06       Impact factor: 18.302

Review 3.  Developing multidisciplinary clinics for neuromuscular care and research.

Authors:  Sabrina Paganoni; Katie Nicholson; Fawn Leigh; Kathryn Swoboda; David Chad; Kristin Drake; Kellen Haley; Merit Cudkowicz; James D Berry
Journal:  Muscle Nerve       Date:  2017-08-29       Impact factor: 3.217

4.  Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.

Authors:  Anke Hensiek; Stephen Kirker; Evan Reid
Journal:  J Neurol       Date:  2014-12-06       Impact factor: 4.849

  4 in total

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