Congenital myotonic dystrophy in Britain. I. Clinical aspects.
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Molecular genetics and genetic testing in myotonic dystrophy type 1.Age of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1).Diaphragmatic hernia in the south-west of EnglandPresymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.Cardiac involvement in congenital myotonic dystrophyThe natural history of congenital myotonic dystrophy: mortality and long term clinical aspectsClinical evidence for heterogeneity in myotonic dystrophyRisk estimates for neonatal myotonic dystrophy.Paternal transmission of congenital myotonic dystrophyMild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence.Congenital myotonic dystrophy in a national registry.Do you shake hands with mothers of floppy babies?Neonatal form of dystrophia myotonica. Five cases in preterm babies and a review of earlier reportsThe Change of Grip Strength in a Patient with Congenital Myotonic Dystrophy Over a 4-year Period.Genetic risks for children of women with myotonic dystrophy.Left ventricular diastolic function in congenital myotonic dystrophy.Congenital myotonic dystrophy: respiratory function at birth determines survival.Myotonia dystrophica: unusual features in a Labrador familyApathy and hypersomnia are common features of myotonic dystrophy.Dystrophia myotonica and pregnancy--an instructive case.Arthrogryposis multiplex congenital in a child manifesting phenotypic features resembling dysosteosclerosis/osteosclerosis malformation complex; 3DCT scan analysis of the skull base.Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1.Clinical characteristics of pregnancies complicated by congenital myotonic dystrophy.Congenital myotonic dystrophy: ventriculomegaly and shunt considerations for the pediatric neurosurgeon.Anesthesia for pediatric neurological and neuromuscular diseases.New insights into the pathogenesis of congenital myopathies.Infant mortality in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective.Congenital myotonic dystrophy.CTG repeat size and histologic findings of skeletal muscle from patients with congenital myotonic dystrophy.Developmental changes in expression of myotonic dystrophy protein kinase in the rat central nervous system.Myotonic dystrophy type 1-associated CTG repeats disturb the expression and subcellular distribution of microtubule-associated proteins MAP1A, MAP2, and MAP6/STOP in PC12 cells.
P2860
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P2860
Congenital myotonic dystrophy in Britain. I. Clinical aspects.
description
1975 nî lūn-bûn
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1975 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1975 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1975年の論文
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1975年学术文章
@wuu
1975年学术文章
@zh-cn
1975年学术文章
@zh-hans
1975年学术文章
@zh-my
1975年学术文章
@zh-sg
1975年學術文章
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name
Congenital myotonic dystrophy in Britain. I. Clinical aspects.
@ast
Congenital myotonic dystrophy in Britain. I. Clinical aspects.
@en
Congenital myotonic dystrophy in Britain. I. Clinical aspects.
@nl
type
label
Congenital myotonic dystrophy in Britain. I. Clinical aspects.
@ast
Congenital myotonic dystrophy in Britain. I. Clinical aspects.
@en
Congenital myotonic dystrophy in Britain. I. Clinical aspects.
@nl
prefLabel
Congenital myotonic dystrophy in Britain. I. Clinical aspects.
@ast
Congenital myotonic dystrophy in Britain. I. Clinical aspects.
@en
Congenital myotonic dystrophy in Britain. I. Clinical aspects.
@nl
P2860
P356
P1476
Congenital myotonic dystrophy in Britain. I. Clinical aspects.
@en
P2093
P S Harper
P2860
P304
P356
10.1136/ADC.50.7.505
P407
P577
1975-07-01T00:00:00Z