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Journal of Personalized Medicine|October 27, 2022
Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping ReviewSamantha Edwards, Nigel Laing
Journal of Inherited Metabolic Disease|April 23, 2022
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heardEdwin P Kirk, Martin B Delatycki, Nigel Laing
Neurology. Genetics|April 24, 2023
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype: A Case ReportCatherine Ashton, Mark Davis, Nigel Laing, et al.
Neuromuscular Disorders : NMD|March 23, 2007
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological studyIsabelle Pénisson-Besnier, Nicole Monnier, Annick Toutain, et al.
Biochemical and Biophysical Research Communications|August 7, 2002
Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathyP Anthony Akkari, Yuhua Song, Sarah Hitchcock-DeGregori, et al.
Muscle & Nerve|February 16, 2006
Intranuclear nemaline rod myopathyVassil Kaimaktchiev, Hans Goebel, Nigel Laing, et al.
Muscle & Nerve|September 13, 2006
Variable presentation of nemaline myopathy: novel mutation of alpha actin geneAnthony A Bouldin, Melissa A Parisi, Nigel Laing, et al.
European Journal of Human Genetics : EJHG|April 16, 2025
Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysisDeborah Schofield, Evelyn Lee, Jayamala Parmar, et al.
Medycyna Wieku Rozwojowego|August 4, 2009
[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected]Agata Bojdo, Ewa Obersztyn, Carina Wallgren-Pettersson, et al.
Neuromuscular Disorders : NMD|March 28, 2006
Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1Adrian Phillip Scott, Richard James Nigel Allcock, Frank Mastaglia, et al.
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