N. G. Laing

发表

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

F. Muntoni, N. Laing, V. Dubowitz, 2012, Neuromuscular Disorders.

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

S. Çırak, H. Jungbluth, C. Sewry, 2012, Neuromuscular Disorders.

Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy

F. Mastaglia, N. Laing, J. Hallmayer, 1999, Journal of neurology, neurosurgery, and psychiatry.

A splice-site mutation causing ovine McArdle's disease

N. Laing, S. Wilton, P. Akkari, 1997, Neuromuscular Disorders.

Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene.

G. B. Petersen, N. Laing, P. Ray, 1998, Gene.

Uva-dare (digital Academic Repository) Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (myh7) Cause Laing Early-onset Distal Myopathy (mpd1)

F. Mastaglia, P. Hedera, N. Laing, 2022 .

Adenovirus and adeno-associated virus-mediated delivery of human myophosphorylase cDNA and LacZ cDNA to muscle in the ovine model of McArdle’s disease: Expression and re-expression of glycogen phosphorylase

N. Laing, A. Everaardt, G. Karpati, 2008, Neuromuscular Disorders.

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation

G. Hankey, F. Mastaglia, N. Laing, 1998, Journal of neurology, neurosurgery, and psychiatry.

Investigation of muscle disease.

F. Mastaglia, N. Laing, N. G. Laing, 1996, Journal of neurology, neurosurgery, and psychiatry.

Neuromuscular Disorders

K. Pelin, V. Lehtokari, B. Udd, 2022 .

Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?

N. Laing, R. Johnsen, B. Kakulas, 1992, American journal of medical genetics.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2018, Annals of neurology.

Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn)

N. Laing, J. Schröder, H. Durling, 2004, Acta Neuropathologica.

Clinical course correlates poorly with muscle pathology in nemaline myopathy

U. de Girolami, B. Ilkovski, A. Beggs, 2003, Neurology.

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy

P. Gunning, N. Laing, C. Wallgren‐Pettersson, 2002, Neuromuscular Disorders.

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

F. Mastaglia, P. Hedera, N. Laing, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

Nemaline Myopathy with Exclusively Intranuclear Rods and a Novel Mutation in ACTA1 (Q139H)

B. Ilkovski, N. Laing, A. Koy, 2007, Neuropediatrics.

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.

P. Sham, J. Powell, A. Al-Chalabi, 1998, Human molecular genetics.