Merosin-positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families (Q73573252)

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5 November 2019

title

Merosin-positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10728208%20AND%20SRC:MED&resulttype=core&format=json

congenital muscular dystrophy

5 November 2019

main subject

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H Topaloğlu

1

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5 November 2019

M Yetük

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10728208%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

B Talim

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10728208%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Z Akçören

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10728208%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

M Cağlar

5

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5 November 2019

publication date

1 January 1997

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European Journal of Paediatric Neurology

5 November 2019

published in

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5 November 2019

volume

1

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5 November 2019

issue

4

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5 November 2019

page(s)

127-131

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Congenital Muscular Dystrophy: A Clinico-Pathological and Follow-Up Study of 15 Patients

5 November 2019

cites work

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Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

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Congenital muscular dystrophy: a clinicopathologic report of 24 cases

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Diagnostic criteria for Walker-Warburg syndrome

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Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis

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A case of Ullrich's disease (Kongenitale, Atonisch-Sklerotische Muskeldystrophie)

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7 January 2021

Lissencephaly and other malformations of cortical development: 1995 update

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7 January 2021

Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome?

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7 January 2021

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

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7 January 2021

Abnormal localization of laminin subunits in muscular dystrophies

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7 January 2021

Muscle-eye-brain disease: a neuropathological study

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7 January 2021

Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic

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7 January 2021

Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy

1 reference

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7 January 2021

Laminin-alpha 2 chain (merosin M) is preserved in the Walker-Warburg syndrome.

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7 January 2021

Analysis of "pure" congenital muscular dystrophies in thirty-eight cases. How different is the classical type 1 from the occidental type cerebromuscular dystrophy?

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7 January 2021

Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy

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7 January 2021

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.

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7 January 2021

Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status

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7 January 2021

Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities

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7 January 2021

Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families.

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7 January 2021

Expression of laminin subunits in congenital muscular dystrophy

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7 January 2021

Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal

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7 January 2021

Ocular findings in Fukuyama type congenital muscular dystrophy

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7 January 2021

Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: observations in fetal and pediatric cases.

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7 January 2021

MRI of the brain in muscle-eye-brain (MEB) disease

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7 January 2021

Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study.

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7 January 2021

Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome.

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7 January 2021

Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome: fine structural findings in skeletal muscle and conjunctiva

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7 January 2021

Muscle pathology in Marinesco-Sjogren syndrome: a unique ultrastructural feature

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7 January 2021

Congenital muscular dystrophy and cerebellar vermis agenesis in two brothers

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7 January 2021

Congenital Muscular Dystrophy with Cerebellar Atrophy

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7 January 2021

Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: new entity or variant of Walker-Warburg syndrome?

1 reference

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7 January 2021

10.1016/S1090-3798(97)80045-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10728208%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference