Amyotrophic lateral sclerosis || Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)



August 25, 2016

ALS

Last Updated: Aug 25, 2016

• ALS: A bucket of genes, environment, metabolism and unknown ingredients.
  Zufiría Mónica et al. Progress in neurobiology 2016 Jul 142104-29
• Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians
  Jennifer Roggenbuck et al, Genetics in Medicine, August 18, 2016
• Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians.
  Roggenbuck Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug
• Mutational analysis of CHCHD2 in Chinese patients with multiple system atrophy and amyotrophic lateral sclerosis.
  Yang Xinglong, et al. Journal of the neurological sciences 2016 9 389-91
• National ALS Registry Releases Updated Prevalence Estimates
  CDC press release, August 4, 2016
• Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
  van Rheenen Wouter, et al. Nature genetics 2016 7
• NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
  Kenna Kevin P, et al. Nature genetics 2016 7
• The ‘Ice Bucket Challenge’ Helped Scientists Discover a New Gene Tied to A.L.S.
  New York Times, July 27, 2016
• From animal models to human disease: a genetic approach for personalized medicine in ALS
  V Picher-Martel et al, Acta Neuropathologica CommunicationsNeuroscience of Disease20164:70
• Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
  W van Rheenen et al, Nature Genetics, July 25, 2016
• The role of the FTD-ALS associated C9orf72 expansion in suicide victims.
  Solje Eino, et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2016 7 1-4
• Distinct and shared functions of ALS-associated proteins TDP-43, FUS and TAF15 revealed by multisystem analyses.
  Kapeli Katannya, et al. Nature communications 2016 0 12143
• Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci.
  He Fang, et al. Neurology. Genetics 2016 6 (3) e71
• Screening of the TBK1 gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin.
  Shu Shi, et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2016 6 1-3
• Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
  Fogh Isabella, et al. JAMA neurology 2016 5

• CDC Information (6)
• CDC-Authored Pub (0)

• Human (16)
• Pathogen (0)

• Human (518)
• Pathogen (0)

• Human (6)
• Pathogen (0)

• Guidelines (0)
• Tier Table (0)
• Synthesis (1)

Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB