De novo LMNA mutations cause a new form of congenital muscular dystrophy. - sprookjes - yvandenbroek - TriplyDB

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

http://www.wikidata.org/entity/Q46541952

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A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome Arthrogryposis: a review and update Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features When lamins go bad: nuclear structure and disease The nuclear envelope: an intriguing focal point for neurogenetic disease Laminopathies and the long strange trip from basic cell biology to therapy Congenital muscular dystrophies: a brief review The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease Diagnostic approach to the congenital muscular dystrophies.Axial myopathy: an overlooked feature of muscle diseases.Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.Diseases of the nuclear envelope.RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.Inner nuclear membrane proteins: impact on human disease.A laminopathic mutation disrupting lamin filament assembly causes disease-like phenotypes in Caenorhabditis elegans.LMNA cardiomyopathy: cell biology and genetics meet clinical medicine.Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody.A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.Muscle development, regeneration and laminopathies: how lamins or lamina-associated proteins can contribute to muscle development, regeneration and disease.Investigation of age-related changes in LMNA splicing and expression of progerin in human skeletal muscles.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Nuclear mechanics and mechanotransduction in health and disease.Defective skeletal muscle growth in lamin A/C-deficient mice is rescued by loss of Lap2α.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.Consensus statement on standard of care for congenital muscular dystrophies.The collagen VI-related myopathies: muscle meets its matrix.Novel insights into the disease etiology of laminopathies.Laminopathies: the molecular background of the disease and the prospects for its treatment.Clinical and genetic heterogeneity in laminopathies.The ever-expanding spectrum of congenital muscular dystrophies.Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Advances in basic and clinical research in laminopathies.Normal and aberrant splicing of LMNA.What Should the Cardiologist know about Lamin Disease?

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P2860

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

http://www.wikidata.org/entity/Q46541952

description

2008 nî lūn-bûn

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年學術文章

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2008年學術文章

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name

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

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De novo LMNA mutations cause a new form of congenital muscular dystrophy.

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type

label

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

@en

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

@nl

prefLabel

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

@en

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

@nl

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Annals of Neurology

P1476

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

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Ana Ferreiro

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Andrés Nascimento

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Annie Barois

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Blaise Mbieleu

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Brigitte Estournet

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Caroline A Sewry

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Carsten G Bönnemann

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Francesco Muntoni

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Helen Roper

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Jaume Colomer

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P2860

[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]

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177-186

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scholarly article

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10.1002/ANA.21417

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2

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64

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Pascale Guicheney

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2008-08-01T00:00:00Z

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5304437

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18551513

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