Laing, Nigel G.

Top Publications

Top Publications Authored or Co-Authored by "Laing, Nigel G."

• Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy

  American Journal of Human Genetics, Volume 93, No. 6, Year 2013, Citations 150
• Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity

  Human Molecular Genetics, Volume 3, No. 8, Year 1994, Citations 137
• Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

  Neurology, Volume 55, No. 9, Year 2000, Citations 74
• NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

  Nature Communications, Volume 11, No. 1, Article 4625, Year 2020, Citations 48
• A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

  Neuromuscular Disorders, Volume 21, No. 1, Year 2011, Citations 23