Literature DB >> 9689034

Mutations causing muscle weakness.

J Lindstrom1.   

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Year:  1998        PMID： 9689034      PMCID： PMC33876          DOI： 10.1073/pnas.95.16.9070

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  10 in total

1.  The mammalian gene of acetylcholinesterase-associated collagen.

Authors:  E Krejci; S Thomine; N Boschetti; C Legay; J Sketelj; J Massoulié
Journal:  J Biol Chem       Date:  1997-09-05       Impact factor: 5.157

2.  Atomic structure of acetylcholinesterase from Torpedo californica: a prototypic acetylcholine-binding protein.

Authors:  J L Sussman; M Harel; F Frolow; C Oefner; A Goldman; L Toker; I Silman
Journal:  Science       Date:  1991-08-23       Impact factor: 47.728

Review 3.  Toward a structural basis for the function of nicotinic acetylcholine receptors and their cousins.

Authors:  A Karlin; M H Akabas
Journal:  Neuron       Date:  1995-12       Impact factor: 17.173

Review 4.  Nicotinic acetylcholine receptors in health and disease.

Authors:  J Lindstrom
Journal:  Mol Neurobiol       Date:  1997-10       Impact factor: 5.590

Review 5.  Autoimmune and genetic disorders at the neuromuscular junction. The 1997 Ronnie Mac Keith lecture.

Authors:  J Newsom-Davis
Journal:  Dev Med Child Neurol       Date:  1998-03       Impact factor: 5.449

6.  End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.

Authors:  A G Engel; K Ohno; C Bouzat; S M Sine; R C Griggs
Journal:  Ann Neurol       Date:  1996-11       Impact factor: 10.422

7.  An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy.

Authors:  O K Steinlein; A Magnusson; J Stoodt; S Bertrand; S Weiland; S F Berkovic; K O Nakken; P Propping; D Bertrand
Journal:  Hum Mol Genet       Date:  1997-06       Impact factor: 6.150

8.  Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.

Authors:  R Shiang; S G Ryan; Y Z Zhu; A F Hahn; P O'Connell; J J Wasmuth
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

9.  Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.

Authors:  K Ohno; J Brengman; A Tsujino; A G Engel
Journal:  Proc Natl Acad Sci U S A       Date:  1998-08-04       Impact factor: 11.205

10.  Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits.

Authors:  S Camp; S Bon; Y Li; D K Getman; A G Engel; J Massoulié; P Taylor
Journal:  J Clin Invest       Date:  1995-01       Impact factor: 14.808
  10 in total
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1.  Surgical correction of blepharoptosis in patients with myasthenia gravis.

Authors:  E A Bradley; G B Bartley; K L Chapman; R R Waller
Journal:  Trans Am Ophthalmol Soc       Date:  2000

2.  Synaptogenesis and myopathy under acetylcholinesterase overexpression.

Authors:  E Lev-Lehman; T Evron; R S Broide; E Meshorer; I Ariel; S Seidman; H Soreq
Journal:  J Mol Neurosci       Date:  2000 Feb-Apr       Impact factor: 3.444
  2 in total

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