102nd ENMC International Workshop on Schwartz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands. (Q53299464)

13 May 2018

title

102nd ENMC International Workshop on Schwartz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands. (English)

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13 May 2018

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2

Haluk Topaloglu

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13 May 2018

Sophie Nicole

1

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13 May 2018

Bertrand Fontaine

series ordinal

3

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13 May 2018

publication date

1 May 2003

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13 May 2018

published in

Neuromuscular Disorders

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13 May 2018

volume

13

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13 May 2018

issue

4

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13 May 2018

page(s)

347-351

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13 May 2018

Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping.

cites work

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900272-9

7 January 2021

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900272-9

7 January 2021

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

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7 January 2021

The myotonic dystrophies

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7 January 2021

Diseases caused by voltage-gated ion channels

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7 January 2021

Congenital blepharophimosis associated with a unique generalized myopathy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900272-9

7 January 2021

Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900272-9

7 January 2021

Chondrodystrophic myotonia: report of two cases. Myotonia, dwarfism, diffuse bone disease, and unusual ocular and facial abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900272-9

7 January 2021

Schwartz-Jampel syndrome (chondrodystrophic myotonia)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900272-9

7 January 2021

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900272-9

7 January 2021

Schwartz-Jampel syndrome. Clinical, electrophysiological and histopathological study of a severe variant

1 reference

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7 January 2021

Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates

1 reference

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7 January 2021

Congenital bowing of the long bones in two sisters

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900272-9

7 January 2021

Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900272-9

7 January 2021

Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900272-9

7 January 2021

Supramolecular assembly of basement membranes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900272-9

7 January 2021

Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900272-9

7 January 2021

10.1016/S0960-8966(02)00272-9

Identifiers

DOI

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13 May 2018

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13 May 2018