Myofibrillar myopathies: a clinical and myopathological guide.
about
The many faces of plectin and plectinopathies: pathology and mechanismsMyofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIbDiagnostic impact of myotonic discharges in myofibrillar myopathies.Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle.Myofibrillar myopathies: new developments.Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).A novel intronic single nucleotide polymorphism in the myosin heavy polypeptide 4 gene is responsible for the mini-muscle phenotype characterized by major reduction in hind-limb muscle mass in miceA knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts.Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathyTwo desmin gene mutations associated with myofibrillar myopathies in Polish familiesMutations in the N-terminal actin-binding domain of filamin C cause a distal myopathyUnusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.Novel recessive myotilin mutation causes severe myofibrillar myopathy.Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.Congenital myopathy caused by a novel missense mutation in the CFL2 gene.Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.Desminopathies: pathology and mechanisms.Knockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscleDownstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophyQuantitative Non-canonical Amino Acid Tagging (QuaNCAT) Proteomics Identifies Distinct Patterns of Protein Synthesis Rapidly Induced by Hypertrophic Agents in Cardiomyocytes, Revealing New Aspects of Metabolic Remodeling.A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.Filamin C-related myopathies: pathology and mechanisms.Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.Anesthetic considerations in myofibrillar myopathy.Biomechanical characterization of myofibrillar myopathies.Mitochondrial abnormalities in the myofibrillar myopathies.Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in miceRNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice.Immunoblot as a potential diagnostic tool for myofibrillar myopathies.Abnormal expression of RNA polymerase II-associated proteins in muscle of patients with myofibrillar myopathies.Genome engineering: a new approach to gene therapy for neuromuscular disorders.Intermediate filaments and cellular mechanics.Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.Vigor of survival determinism: subtle evolutionary gradualism interspersed with robust phylogenetic leaping.Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
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Myofibrillar myopathies: a clinical and myopathological guide.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on July 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Myofibrillar myopathies: a clinical and myopathological guide.
@en
Myofibrillar myopathies: a clinical and myopathological guide.
@nl
type
label
Myofibrillar myopathies: a clinical and myopathological guide.
@en
Myofibrillar myopathies: a clinical and myopathological guide.
@nl
prefLabel
Myofibrillar myopathies: a clinical and myopathological guide.
@en
Myofibrillar myopathies: a clinical and myopathological guide.
@nl
P1433
P1476
Myofibrillar myopathies: a clinical and myopathological guide
@en
P2093
Rolf Schröder
P2860
P304
P356
10.1111/J.1750-3639.2009.00289.X
P577
2009-07-01T00:00:00Z