Muscle fibrillin deficiency in Marfan's syndrome myopathy. - Wikidata - awgldk - TriplyDB

Muscle fibrillin deficiency in Marfan's syndrome myopathy.

Muscle fibrillin deficiency in Marfan's syndrome myopathy.

http://www.wikidata.org/entity/Q35473537

about

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.New therapeutic targets in rare genetic skeletal diseases.Skeletal dysplasias associated with mild myopathy-a clinical and molecular review.The neuromuscular differential diagnosis of joint hypermobility.Adolescent idiopathic scoliosis: evidence for intrinsic factors driving aetiology and progression.Abnormal heart rate recovery and deficient chronotropic response after submaximal exercise in young Marfan syndrome patients.Pupillary manifestations of Marfan syndrome: from the Marfan eye consortium of Chicago.Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit.

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P2860

Muscle fibrillin deficiency in Marfan's syndrome myopathy.

http://www.wikidata.org/entity/Q35473537

description

2003 nî lūn-bûn

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2003 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի մայիսին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

Muscle fibrillin deficiency in Marfan's syndrome myopathy.

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Muscle fibrillin deficiency in Marfan's syndrome myopathy.

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type

label

Muscle fibrillin deficiency in Marfan's syndrome myopathy.

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Muscle fibrillin deficiency in Marfan's syndrome myopathy.

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prefLabel

Muscle fibrillin deficiency in Marfan's syndrome myopathy.

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Muscle fibrillin deficiency in Marfan's syndrome myopathy.

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Journal of Neurology, Neurosurgery and Psychiatry

P1476

Muscle fibrillin deficiency in Marfan's syndrome myopathy.

@en

P2093

A H Child

http://www.w3.org/2001/XMLSchema#string

C Longman

http://www.w3.org/2001/XMLSchema#string

D G F Harriman

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M Boxer

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P Comeglio

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P Foskett

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R K H Petty

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W M H Behan

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P2860

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

The molecular genetics of Marfan syndrome and related microfibrillopathies

"New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896

Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils

The Marfan syndrome.

Revised diagnostic criteria for the Marfan syndrome.

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

The Marfan syndrome: diagnosis and management.

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633-638

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10.1136/JNNP.74.5.633

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5

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74

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10800908

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12700307

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1738457

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