(Q44122955)

English

Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.

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scholarly article

1 reference

Europe PubMed Central

30 November 2017

Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. (English)

1 reference

Europe PubMed Central

30 November 2017

cerebellar hypoplasia

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congenital muscular dystrophy

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author name string

Th Voit

1

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Europe PubMed Central

30 November 2017

E Parano

2

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Europe PubMed Central

30 November 2017

V Straub

3

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Europe PubMed Central

30 November 2017

J M Schröder

4

1 reference

Europe PubMed Central

30 November 2017

J Schaper

5

1 reference

Europe PubMed Central

30 November 2017

P Pavone

6

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Europe PubMed Central

30 November 2017

R Falsaperla

7

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Europe PubMed Central

30 November 2017

L Pavone

8

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Europe PubMed Central

30 November 2017

R Herrmann

9

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30 November 2017

language of work or name

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publication date

1 October 2002

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30 November 2017

Neuromuscular Disorders

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30 November 2017

12

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30 November 2017

7-8

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30 November 2017

623-630

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30 November 2017

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%2FS0960-8966%2802%2900018-4

7 January 2021

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Congenital muscular dystrophies: 1997 update

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

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85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

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Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

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Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Congenital muscular dystrophy and cerebellar atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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The distal arthrogryposes: delineation of new entities--review and nosologic discussion

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

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Cranio-carpo-tarsal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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The MASA syndrome: A new heritable mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Congenital clasped thumb: a review of forty-three cases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Adducted thumb syndrome. Report of a new case and a diagnostic approach

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Myopathy with unique ultrastructural feature in Marinesco-Sjögren syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Limitation of eye movement in merosin-deficient congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Diagnostic criteria for Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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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%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

based on heuristic

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Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900018-4

7 January 2021

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Identifiers

10.1016/S0960-8966(02)00018-4

1 reference

Europe PubMed Central

30 November 2017

1 reference

Europe PubMed Central

30 November 2017

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