(Q44332198)

2 December 2017

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase (English)

1 reference

congenital myasthenic syndrome

2 December 2017

1 reference

12

1 reference

2 December 2017

2

Angela Abicht

1 reference

2 December 2017

Carolin Schmidt

1

1 reference

2 December 2017

Klaus Krampfl

3

1 reference

2 December 2017

Wolfgang Voss

4

1 reference

2 December 2017

Rolf Stucka

5

1 reference

2 December 2017

Gina Mildner

6

1 reference

2 December 2017

Sofia Petrova

7

1 reference

2 December 2017

Ulrike Schara

8

1 reference

2 December 2017

Wilhelm Mortier

9

1 reference

2 December 2017

Johannes Bufler

10

1 reference

2 December 2017

Angela Huebner

11

1 reference

2 December 2017

1 March 2003

1 reference

2 December 2017

Neuromuscular Disorders

1 reference

2 December 2017

13

1 reference

2 December 2017

3

1 reference

2 December 2017

245-251

1 reference

Congenital myasthenic syndromes. Studies of the AChR and other candidate genes.

2 December 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

73(rd) ENMC International Workshop: congenital myasthenic syndromes. 22-23 October, 1999, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

Molecular targets for autoimmune and genetic disorders of neuromuscular transmission

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

Congenital myasthenic syndromes: recent advances

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

Upstream sequencing and functional characterization of the human cholinergic gene locus

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

Human choline acetyltransferase gene: localization of alternative first exons

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900273-0

7 January 2021

10.1016/S0960-8966(02)00273-0

Identifiers

DOI

1 reference

2 December 2017

1 reference