Recent advances in Cys-loop receptor structure and function
For the Cys-loop superfamily of receptors, recent structural data have catalysed a leap in understanding of the three steps of chemical-to-electrical transduction: neurotransmitter binding, communication between the binding site and the barrier to ions, and opening and closing of the barrier.
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
- A. Engel, X.-M. Shen, D. Selcen, S. Sine
- MedicineLancet Neurology
- 2015
Mutations in ZASP define a novel form of muscular dystrophy in humans
It is concluded that mutations in ZASP cause stereotyped MFM pathology; cardiomyopathy, distal more than proximal weakness, and neuropathy are in the spectrum of zaspopathy; and mutations inZASP define a novel form of autosomal dominant muscular dystrophy in humans.
Mutation in BAG3 causes severe dominant childhood muscular dystrophy
- D. Selcen, F. Muntoni, A. Engel
- BiologyAnnals of Neurology
- 9 December 2008
Myofibrillar myopathies (MFMs) are morphologically distinct but genetically heterogeneous muscular dystrophies in which disintegration of Z disks and then of myofibrils is followed by ectopic…
Congenital myasthenic syndromes.
- A. Engel
- MedicineEuropean journal of paediatric neurology
- 1 September 1985
Monoclonal antibody analysis of mononuclear cells in myopathies. I: Quantitation of subsets according to diagnosis and sites of accumulation and demonstration and counts of muscle fibers invaded by T…
- K. Arahata, A. Engel
- Medicine, BiologyAnnals of Neurology
- 1 August 1984
T‐B, T‐T, and T‐macrophage cooperativities are likely to exist in muscle in different myopathies and T cell‐mediated fiber injury plays a role in polymyositis and inclusion body myositis.
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
- K. Ohno, A. Tsujino, A. Engel
- BiologyProceedings of the National Academy of Sciences…
- 13 February 2001
It is reported that mutations in CHAT cause a congenital myasthenic syndrome associated with frequently fatal episodes of apnea (CMS-EA), and findings point to a defect in ACh resynthesis or vesicular filling and to CHAT as one of the candidate genes.
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
MFM is morphologically distinct but genetically heterogeneous, and advances in defining the molecular causes of MFM will probably come from linkage studies of informative kinships or from systematic search for mutations in proteins participating in the intricate network supporting the Z-disk.
Inclusion body myositis and myopathies
- R. Griggs, V. Askanas, L. Rowland
- Medicine, BiologyAnnals of Neurology
- 1 November 1995
Newest approaches to diagnosis and pathogenesis of sporadic inclusion-body myositis and hereditary inclusion- body myopathies, including molecular-pathologic similarities to Alzheimer disease are introduced.
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