| P50 | author | Kinji Ohno | Q37370712 |
| P2093 | author name string | A G Engel | |
| | D Selcen | |
| | E C Smith | |
| | V C Juel | |
| | A V Bite | |
| | D E Stickler | |
| | L D Hobson-Webb | |
| P2860 | cites work | Plectin deficiency results in muscular dystrophy with epidermolysis bullosa | Q24310411 |
| | Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy | Q24562137 |
| | A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency | Q24685930 |
| | Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency | Q28142098 |
| | Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations | Q28243587 |
| | Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization | Q28283989 |
| | Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy | Q28294894 |
| | Duchenne dystrophy: Electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber | Q30951467 |
| | Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature | Q33778080 |
| | Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms. | Q36660691 |
| | How myasthenia gravis alters the safety factor for neuromuscular transmission | Q37106516 |
| | A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy | Q37361311 |
| | Plectin gene defects lead to various forms of epidermolysis bullosa simplex | Q37640756 |
| | Plectin transcript diversity: identification and tissue distribution of variants with distinct first coding exons and rodless isoforms | Q38345907 |
| | Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases | Q38656431 |
| | Intracellular calcium accumulation in Duchenne dystrophy and other myopathies: a study of 567,000 muscle fibers in 114 biopsies | Q39486051 |
| | Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases | Q40869405 |
| | Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations. | Q41713746 |
| | Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy | Q42473106 |
| | Muscular integrity--a matter of interlinking distinct structures via plectin | Q43757073 |
| | Immune complexes (IgG and C3) at the motor end-plate in myasthenia gravis: ultrastructural and light microscopic localization and electrophysiologic correlations | Q43866400 |
| | Unusual 5' transcript complexity of plectin isoforms: novel tissue-specific exons modulate actin binding activity | Q47912980 |
| | Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. | Q51759505 |
| | Plectin defects in epidermolysis bullosa simplex with muscular dystrophy. | Q52573505 |
| | Amplification of neuromuscular transmission by postjunctional folds. | Q54188878 |
| | Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy | Q61894128 |
| | Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model | Q67011184 |
| | Na+ current densities and voltage dependence in human intercostal muscle fibres | Q67510285 |
| | Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy With Recessive Inheritance | Q68306730 |
| | Distribution of Na+ channels and ankyrin in neuromuscular junctions is complementary to that of acetylcholine receptors and the 43 kd protein | Q69364556 |
| | Ultrastructural localization of the terminal and lytic ninth complement component (C9) at the motor end-plate in myasthenia gravis | Q71188155 |
| | Effects of length changes on Na+ current amplitude and excitability near and far from the end-plate | Q71408469 |
| | Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis | Q72770827 |
| | A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel | Q72948642 |
| | Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests | Q77787195 |
| | PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy | Q82268969 |
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P1104 | number of pages | 10 | |
| P304 | page(s) | 327-336 | |
| P577 | publication date | 2011-01-01 | |
| P1433 | published in | Neurology | Q1161692 |
| P1476 | title | Myasthenic syndrome caused by plectinopathy | |
| P478 | volume | 76 | |