What's New

Last Posted: Aug 01, 2019

• Update on amyotrophic lateral sclerosis genetics.
  Brenner David et al. Current opinion in neurology 2019 Jul
• Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis.
  Ryan Marie et al. JAMA neurology 2019 Jul
• The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public.
  van der Spek Rick A A et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2019 Aug 20(5-6) 432-440
• Rare variants in MYH15 modify amyotrophic lateral sclerosis risk
  Kin H. et al. Human Molecular Genetics, Volume 28, Issue 14, 15 July 2019, Pages 2309?2318
• Adjusted Cost Analysis of Video Televisits for the Care of People with ALS.
  Paganoni Sabrina et al. Muscle & nerve 2019 May
• Nutritional counseling with or without mobile health technology: a randomized open-label standard-of-care-controlled trial in ALS.
  Wills Anne Marie et al. BMC neurology 2019 May 19(1) 104
• An update on genetic frontotemporal dementia.
  Greaves Caroline V et al. Journal of neurology 2019 May
• Next Generation Precision Medicine: CRISPR-mediated Genome Editing for the Treatment of Neurodegenerative Disorders.
  Raikwar Sudhanshu P et al. Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology 2019 Apr
• I have ALS. I wish a polygenic analysis had told me it was coming
  R Desikan, Stat News, April 30, 2019
• Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis.
  Dekker Annelot M et al. Scientific reports 2019 Apr 9(1) 5931
• Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.
  Giau Vo Van et al. International journal of molecular sciences 2019 Mar 20(6)
• Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients.
  Klepek Holly et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2019 Apr 1-6
• The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling.
  Crook Ashley et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2019 Mar 1-7
• Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
  Elert-Dobkowska Ewelina et al. Neurogenetics 2019 Feb
• Partitioning the genetic architecture of amyotrophic lateral sclerosis
  IJ Broce et al, BioRXIV, February 24, 2019