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Person
ISNI: 
0000 0000 3636 1482
Name: 
Talbot, K.
Talbot, K A
Talbot, Kevin
Creation class: 
article
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author
Related names: 
ebrary, Inc
Marsden, Rachael
University of Oxford
Titles: 
Activation of mutant protein kinase C gamma leads to aberrant sequestration and impairment of its cellular function
Another gene for ALS: mutations in sporadic cases and the rare variant hypothesis.
Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27)
Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA
Characterization of a gene encoding Survival Motor Neuron (SMN)-related protein, a constituent of the spliceosome complex
Dismutase-competent SOD1 mutant accumulation in myelinating Schwann cells is not detrimental to normal or transgenic ALS model mice
Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype.
Gene deletions in spinal muscular atrophy.
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
Is good housekeeping the key to motor neuron survival?
molecular pathogenesis of autosomal recessive spinal muscular atrophy, The
Motor neuron disease: the bare essentials.
Motor neurone disease
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes., A
Neuromuscular disorders: therapeutic advances.
Primary angiitis of the CNS mimicking a spinal cord tumour.
Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease.
Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy.
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
Spinal muscular atrophy.
study of rare diseases: butterfly collecting or an entrée to understanding common conditions?, The
Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model.
What's new in the molecular genetics of spinal muscular atrophy?
Contributed to or performed: 
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
MEDICINE -ABINGDON-
Notes: 
Thesis (Ph.D.)
Sources: 
VIAF LC NKC NUKAT
BOWKER
JNAM
NTA
ZETO