The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleusPhenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the diseaseSIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradationA novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 diseaseRelationships between clinical data and quantitative EMG findings in facioscapulohumeral muscular dystrophy.Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survival.108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands.Spinal muscular atrophy: a delayed development hypothesis.The involvement of oxidative stress in determining the severity and progress of pathological processes in dystrophin-deficient muscles.Progeria: a laminopathy of special interest.Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del.A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene.Advances in basic and clinical research in laminopathies.Amyotrophic lateral sclerosis: a dying motor unit?Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.Evaluation of the complexity of motor unit potentials in anal sphincter electromyography.The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.A method for determination of muscle fiber diameter using single fiber potential (SFP) analysis.Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family.Motor unit potentials with satellites in dystrophinopathies.Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.Is the normal content of sulfhydryl groups attributable to sparing from dystrophic pathology in dystrophin-deficient muscles?Incidence of spinal muscular atrophy in Poland--more frequent than predicted?[Laminopathies: a common denominator of many disorders (a new chapter of neuromyology and beyond)].Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.Analysis of double discharges in amyotrophic lateral sclerosis.Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation.A novel desmin R355P mutation causes cardiac and skeletal myopathy.[Silver syndrome--case report].Correlating motor unit morphology with bioelectrical activity - A simulation study.Approximation of motor unit structure from the analysis of motor unit potential.The SIIR index--a non-linear combination of waveform size and irregularity parameters for classification of motor unit potentials.Between Prohibition and taboo: should there be limits to scientific inquisitiveness?Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation?Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy.An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene.Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up.
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