Literature DB >> 27893008

Use of Genetic Testing in Amyotrophic Lateral Sclerosis by Neurologists.

Karissa C Arthur1, Carly Doyle2, Adriano Chiò3, Bryan J Traynor1.   

Abstract

Entities:  

Mesh：

Year:  2017        PMID： 27893008      PMCID： PMC7112760          DOI： 10.1001/jamaneurol.2016.4540

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


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  3 in total

1.  Absence of consensus in diagnostic criteria for familial neurodegenerative diseases.

Authors:  Susan Byrne; Marwa Elamin; Peter Bede; Orla Hardiman
Journal:  J Neurol Neurosurg Psychiatry       Date:  2012-04       Impact factor: 10.154

Review 2.  Genetic counselling in ALS: facts, uncertainties and clinical suggestions.

Authors:  Adriano Chiò; Stefania Battistini; Andrea Calvo; Claudia Caponnetto; Francesca L Conforti; Massimo Corbo; Fabio Giannini; Jessica Mandrioli; Gabriele Mora; Mario Sabatelli; Clara Ajmone; Enza Mastro; Debora Pain; Paola Mandich; Silvana Penco; Gabriella Restagno; Marcella Zollino; Antonella Surbone
Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-07-06       Impact factor: 10.154

Review 3.  Presymptomatic ALS genetic counseling and testing: Experience and recommendations.

Authors:  Michael Benatar; Christine Stanislaw; Eliana Reyes; Sumaira Hussain; Anne Cooley; Maria Catalina Fernandez; Danielle D Dauphin; Sara-Claude Michon; Peter M Andersen; Joanne Wuu
Journal:  Neurology       Date:  2016-05-18       Impact factor: 9.910
  3 in total
  10 in total

1.  Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients.

Authors:  Holly Klepek; Haikady Nagaraja; Stephen A Goutman; Adam Quick; Stephen J Kolb; Jennifer Roggenbuck
Journal:  Amyotroph Lateral Scler Frontotemporal Degener       Date:  2019-04-01       Impact factor: 4.092

2.  Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson's Disease.

Authors:  Vittorio Mantero; Claudia Tarlarini; Angelo Aliprandi; Giuseppe Lauria; Andrea Rigamonti; Lucia Abate; Paola Origone; Paola Mandich; Silvana Penco; Andrea Salmaggi
Journal:  J Genet Couns       Date:  2017-03-01       Impact factor: 2.537

3.  Secular Trends of Amyotrophic Lateral Sclerosis: The Piemonte and Valle d'Aosta Register.

Authors:  Adriano Chiò; Gabriele Mora; Cristina Moglia; Umberto Manera; Antonio Canosa; Stefania Cammarosano; Antonio Ilardi; Davide Bertuzzo; Enrica Bersano; Paolo Cugnasco; Maurizio Grassano; Fabrizio Pisano; Letizia Mazzini; Andrea Calvo
Journal:  JAMA Neurol       Date:  2017-09-01       Impact factor: 18.302

4.  The NGS technology for the identification of genes associated with the ALS. A systematic review.

Authors:  Valentina Pecoraro; Jessica Mandrioli; Chiara Carone; Adriano Chiò; Bryan J Traynor; Tommaso Trenti
Journal:  Eur J Clin Invest       Date:  2020-05-19       Impact factor: 5.722

5.  Genetic screening in sporadic ALS and FTD.

Authors:  Martin R Turner; Ammar Al-Chalabi; Adriano Chio; Orla Hardiman; Matthew C Kiernan; Jonathan D Rohrer; James Rowe; William Seeley; Kevin Talbot
Journal:  J Neurol Neurosurg Psychiatry       Date:  2017-06-22       Impact factor: 10.154

6.  Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Authors:  Fleur C Garton; Beben Benyamin; Qiongyi Zhao; Zhijun Liu; Jacob Gratten; Anjali K Henders; Zong-Hong Zhang; Janette Edson; Sarah Furlong; Sarah Morgan; Susan Heggie; Kathryn Thorpe; Casey Pfluger; Karen A Mather; Perminder S Sachdev; Allan F McRae; Matthew R Robinson; Sonia Shah; Peter M Visscher; Marie Mangelsdorf; Robert D Henderson; Naomi R Wray; Pamela A McCombe
Journal:  Mol Genet Genomic Med       Date:  2017-06-12       Impact factor: 2.183

Review 7.  The role of de novo mutations in adult-onset neurodegenerative disorders.

Authors:  Gaël Nicolas; Joris A Veltman
Journal:  Acta Neuropathol       Date:  2018-11-26       Impact factor: 17.088

Review 8.  Genetic testing in motor neurone disease.

Authors:  Thanuja Dharmadasa; Jakub Scaber; Evan Edmond; Rachael Marsden; Alexander Thompson; Kevin Talbot; Martin R Turner
Journal:  Pract Neurol       Date:  2022-01-13

9.  The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis.

Authors:  Kristiana Salmon; Matthew C Kiernan; Seung H Kim; Peter M Andersen; Adriano Chio; Leonard H van den Berg; Philip Van Damme; Ammar Al-Chalabi; Patricia Lillo; Jinsy A Andrews; Angela Genge
Journal:  Brain       Date:  2022-05-24       Impact factor: 15.255

10.  Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.

Authors:  Maysen Mesaros; Steven Lenz; Woobeen Lim; Jordan Brown; Luke Drury; Jennifer Roggenbuck
Journal:  Genes (Basel)       Date:  2021-12-28       Impact factor: 4.096
  10 in total

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