| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | Laing NG | |
| Mastaglia FL | |||
| P2860 | cites work | Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum | Q24298974 |
| Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit | Q24306667 | ||
| Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy | Q24308817 | ||
| β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12 | Q24312878 | ||
| Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A | Q24314667 | ||
| Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy | Q24317622 | ||
| Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy | Q24317764 | ||
| Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity | Q24336919 | ||
| Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11 | Q24337855 | ||
| Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q | Q24670253 | ||
| Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD) | Q24670624 | ||
| Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families | Q24673082 | ||
| Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus | Q24678587 | ||
| Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events | Q56969142 | ||
| Congenital muscular dystrophies | Q57189673 | ||
| Development of a microsatellite genetic map spanning 5q31–q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9 | Q57278675 | ||
| An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region | Q57588514 | ||
| The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28 | Q58183828 | ||
| Scleromyxedema and inflammatory myopathy: a clinicopathologic study of three patients | Q58220648 | ||
| Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy | Q58911533 | ||
| Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies | Q59055292 | ||
| Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts | Q59242144 | ||
| Congenital muscular dystrophy with merosin deficiency | Q59281293 | ||
| A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage | Q63979954 | ||
| Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype | Q67484388 | ||
| Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy | Q67513917 | ||
| Transmission of de-novo mutation associated with facioscapulohumeral muscular dystrophy | Q67522065 | ||
| Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA | Q67580090 | ||
| Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis | Q68028978 | ||
| Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy | Q68137662 | ||
| Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA | Q68163377 | ||
| Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations | Q68170270 | ||
| The dropped head syndrome | Q68228840 | ||
| Differentiation of Becker muscular dystrophy from limb-girdle muscular dystrophy and Kugelberg-Welander disease using a cDNA probe | Q68626605 | ||
| Assignment of the gene for central core disease to chromosome 19 | Q68641306 | ||
| Mitochondrial myopathies. A clinico-pathological study of cases with and without extra-ocular muscle involvement | Q68736771 | ||
| Interleukin-1 alpha, interleukin-2, and soluble interleukin-2 receptors in polymyositis | Q68851663 | ||
| Distinction of Becker from limb-girdle muscular dystrophy by means of dystrophin cDNA probes | Q69367732 | ||
| Improved diagnosis of Becker muscular dystrophy by dystrophin testing | Q69527738 | ||
| Duchenne muscular dystrophy: detection of deletion carriers by spectrophotometric densitometry | Q69637382 | ||
| The exercise test in periodic paralysis | Q69670928 | ||
| Familial hypokalemic periodic paralysis | Q69781694 | ||
| Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels | Q69907065 | ||
| Detection of Duchenne muscular dystrophy carriers by dosage analysis using the DMD cDNA clone 8 | Q69939408 | ||
| Inclusion body myositis (IBM): Myopathy or neuropathy? | Q70160544 | ||
| 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 cells | Q70379552 | ||
| A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient | Q70485043 | ||
| Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy | Q70513160 | ||
| Idiopathic hyperCKemia | Q70789884 | ||
| A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis | Q70949079 | ||
| Inclusion body myositis | Q71020503 | ||
| Respiratory muscle function and ventilatory control. I in patients with motor neurone disease. II in patients with myotonic dystrophy | Q71616571 | ||
| Autosomal recessive generalized myotonia | Q71746995 | ||
| Adhalin gene mutations and autosomal recessive limb-girdle muscular dystrophy | Q72044072 | ||
| How to find all those mutations | Q72048164 | ||
| Hyperkalemic periodic paralysis with cardiac dysrhythmia: A novel sodium channel mutation? | Q72107364 | ||
| Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases | Q72161213 | ||
| Myotonic dystrophy with no trinucleotide repeat expansion | Q72280448 | ||
| Restriction endonuclease fingerprinting (REF): a sensitive method for screening mutations in long, contiguous segments of DNA | Q72308458 | ||
| Positional cloning moves from perditional to traditional | Q72345845 | ||
| Diabetic muscle infarction: magnetic resonance imaging (MRI) avoids the need for biopsy | Q72356509 | ||
| Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores | Q72427554 | ||
| Mitochondrial encephalomyopathies | Q72546384 | ||
| Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction | Q72586776 | ||
| Lack of imprinting of the ABL gene | Q72640300 | ||
| Protein truncation test (PTT) for rapid detection of translation-terminating mutations | Q72676656 | ||
| Complete mitochondrial genome amplification | Q72702971 | ||
| Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation | Q72809810 | ||
| Myotonia fluctuans. A third type of muscle sodium channel disease | Q72855968 | ||
| Computed tomography of the skeletal musculature in Becker-type muscular dystrophy and benign infantile spinal muscular atrophy | Q83941437 | ||
| Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy | Q28155823 | ||
| A calcium channel mutation causing hypokalemic periodic paralysis | Q28242375 | ||
| Dihydropyridine receptor mutations cause hypokalemic periodic paralysis | Q28243593 | ||
| A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p | Q28243860 | ||
| Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33 | Q28257920 | ||
| Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy | Q28284164 | ||
| Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene | Q28285882 | ||
| Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex | Q28290790 | ||
| Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy | Q28292821 | ||
| Deletions of mitochondrial DNA in Kearns-Sayre syndrome | Q28297900 | ||
| Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction | Q28298254 | ||
| A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy | Q28299243 | ||
| An autosomal locus predisposing to deletions of mitochondrial DNA | Q28300006 | ||
| Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14 | Q28300237 | ||
| A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis | Q28305953 | ||
| [21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction | Q29544077 | ||
| Identification and characterization of a spinal muscular atrophy-determining gene | Q29547495 | ||
| Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy | Q30039698 | ||
| Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals | Q30050310 | ||
| Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy | Q33590398 | ||
| Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene | Q33593859 | ||
| Minimal expression of myotonic dystrophy: a clinical and molecular analysis | Q33594628 | ||
| Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion | Q33734762 | ||
| Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect | Q33900269 | ||
| Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees | Q33965082 | ||
| Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients | Q34203571 | ||
| Improved diagnosis of Duchenne/Becker muscular dystrophy | Q34244158 | ||
| Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease | Q34302347 | ||
| Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features | Q34333434 | ||
| An unstable triplet repeat in a gene related to myotonic muscular dystrophy | Q34355359 | ||
| Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome | Q34722788 | ||
| Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII. | Q34804051 | ||
| Experience with screening newborns for Duchenne muscular dystrophy in Wales | Q35186224 | ||
| Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene | Q35194652 | ||
| Evidence for genetic heterogeneity of malignant hyperthermia susceptibility | Q35195427 | ||
| Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I | Q35199410 | ||
| Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction | Q35247229 | ||
| Autosomal dominant distal myopathy: linkage to chromosome 14. | Q35643179 | ||
| Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy. | Q36731351 | ||
| 3-Methylhistidine excretion as an index of myofibrillar protein catabolism in neuromuscular disease | Q36993708 | ||
| Phosphorus magnetic resonance spectroscopy (31P MRS) in neuromuscular disorders | Q37109907 | ||
| Mitochondrial DNA abnormalities in human disease | Q37719382 | ||
| Mitochondrial DNA mutations and neuromuscular disease | Q38622355 | ||
| Neuromuscular diseases associated with human immunodeficiency virus infection | Q39187345 | ||
| Drug-induced myopathies in man | Q39503351 | ||
| Analysis of transcription in the archaebacterium Sulfolobus indicates that archaebacterial promoters are homologous to eukaryotic pol II promoters | Q40536345 | ||
| Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases | Q40546537 | ||
| Treatment of inflammatory myopathies. | Q40739289 | ||
| Congenital myotonic dystrophy; a report on thirteen cases and a review of the literature | Q40744732 | ||
| The rapid detection of unknown mutations in nucleic acids. | Q40786087 | ||
| Neonatal screening for muscular dystrophy. Consensus recommendation of the 14th workshop sponsored by the European Neuromuscular Center (ENMC). | Q40860328 | ||
| Mitochondrial diseases: genotype versus phenotype | Q40919863 | ||
| Inherited disorders of contractile proteins in skeletal and cardiac muscle | Q40935248 | ||
| Discordance between phenotype and genotype in malignant hyperthermia | Q40935254 | ||
| Hereditary nondystrophic myotonias and periodic paralyses | Q40935259 | ||
| Adenosine 3',5'-monophosphate suppresses metastatic spread in nude mice of steroidogenic rat granulosa cells transformed by simian virus-40 and Ha-ras oncogene | Q41084537 | ||
| Evidence for genetic heterogeneity in malignant hyperthermia susceptibility | Q41146922 | ||
| Three years' experience with neonatal screening for Duchenne/Becker muscular dystrophy: gene analysis, gene expression, and phenotype prediction | Q41157826 | ||
| Distribution of 13 truncating mutations in the neurofibromatosis 1 gene | Q41340061 | ||
| Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients | Q42485320 | ||
| Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene | Q43422695 | ||
| Inflammatory myopathies: Part 1. | Q43762911 | ||
| Prenatal detection of an inherited Duchenne muscular dystrophy deletion allele | Q43951110 | ||
| Diagnosis of familial hypokalemic periodic paralysis: role of the potassium exercise test | Q44738353 | ||
| Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. | Q45057593 | ||
| Familial mitral valve prolapse and myotonic dystrophy | Q45246801 | ||
| Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies | Q46135180 | ||
| Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin | Q46313063 | ||
| Nonmetabolic fatigue in exercising human muscle | Q46347702 | ||
| Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. | Q46474359 | ||
| Quadriceps myopathy: forme fruste of Becker muscular dystrophy | Q46970147 | ||
| Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family | Q48086059 | ||
| Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy | Q48311793 | ||
| Ambulatory electrocardiographic recording in mild or moderate myotonic dystrophy and myotonia congenita (Thomsen's disease). | Q49097943 | ||
| Malignant hyperthermia in a patient with Becker muscular dystrophy: dystrophin analysis and caffeine contracture study. | Q51615764 | ||
| Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. | Q51739597 | ||
| Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. | Q51739604 | ||
| The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings. | Q52012592 | ||
| Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. | Q52508889 | ||
| Investigation of human skeletal muscle structure and composition by X-ray computerised tomography. | Q52700014 | ||
| Carrier diagnosis of Duchenne muscular dystrophy using restriction fragment length polymorphisms. | Q53790233 | ||
| Molecular diagnosis of familial adenomatous polyposis. | Q54646463 | ||
| A mutation in the human ryanodine receptor gene associated with central core disease | Q55670932 | ||
| Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia | Q55670933 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 256-274 | |
| P577 | publication date | 1996-03-01 | |
| P1433 | published in | Journal of Neurology, Neurosurgery and Psychiatry | Q1599804 |
| P1476 | title | Investigation of muscle disease | |
| P478 | volume | 60 |
| Q83327642 | A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient |
| Q51094544 | Dose response effect of cement dust on respiratory muscles competence in cement mill workers. |
| Q74291945 | Early onset chromosome 14-linked distal myopathy (Laing) |
| Q40911577 | Electrodiagnosis and muscle biopsy in asymptomatic hyperckemia |
| Q34543012 | Hoffman's syndrome: pseudohypertrophic myopathy as initial manifestation of hypothyroidism. Case report |
| Q64056174 | Hoffmann's Syndrome Secondary to Pendred Syndrome: A Rare Case |
| Q73520766 | Idiopathic inflammatory myopathies |
| Q82029932 | Muscle cramp syndromes |
| Q38134153 | Muscle disorders: the latest investigations |
| Q41740189 | The role of electromyography in neurology |
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