(Q41739772)

8 October 2017

1 reference

title

Congenital muscular dystrophies: 1997 update (English)

1 reference

8 October 2017

Voit T

1

1 reference

8 October 2017

1 March 1998

1 reference

8 October 2017

Brain and Development

1 reference

8 October 2017

20

1 reference

8 October 2017

65-74

1 reference

8 October 2017

2

1 reference

Arthrogryposis multiplex due to congenital muscular dystrophy

8 October 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Benign congenital muscular dystrophy: a special form of congenital hypotonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy. 22-24 April 1994, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

41st ENMC International Workshop on Congenital Muscular Dystrophy 8-10 March 1996, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Merosin/laminin-2 and muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

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.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Intracellular detection of laminin alpha 2 chain in skin by electron microscopy immunocytochemistry: comparison between normal and laminin alpha 2 chain deficient subjects

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Prenatal detection of merosin expression in human placenta

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Prenatal diagnosis in congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Abnormal localization of laminin subunits in muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Congenital muscular dystrophy as a disease of the central nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD).

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Ocular findings in Fukuyama type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

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

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

1 reference

7 January 2021

Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Walker-Warburg syndrome in a Japanese patient

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Diagnostic criteria for Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp. 182-91)

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Cortical dysplasia associated with massive ectopia of neurons and glial cells within the subarachnoid space

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Fetal type II lissencephaly: a case report

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

The prenatal diagnosis of the Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Walker-Warburg syndrome: prenatal ultrasound findings

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Changes of laminin beta 2 chain expression in congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Laminin 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebroocular dysplasia-muscular dystrophy)

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Cobblestone lissencephaly with normal eyes and muscle.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Muscle-eye-brain disease and Walker-Warburg syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Ophthalmological findings in a new syndrome with muscle, eye and brain involvement

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Lissencephaly and other malformations of cortical development: 1995 update

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Muscle-eye-brain disease: a neuropathological study

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Congenital Muscular Dystrophy Associated With Merosin Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Congenital muscular dystrophy and cerebellar vermis agenesis in two brothers

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Congenital Muscular Dystrophy with Cerebellar Atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Ullrich's congenital atonic sclerotic muscular dystrophy. A case report

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy)

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Congenital muscular dystrophy with syringomyelia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

Association of congenital muscular dystrophy with hypoplasia of the lateral abdominal wall musculature and hypoplasia of the external genitalia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900094-6

7 January 2021

10.1016/S0387-7604(97)00094-6

Identifiers

DOI

1 reference

8 October 2017

1 reference

PubMed ID

9545174