Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes (Q46819149)

25 December 2017

title

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes (English)

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25 December 2017

author

Enrico Bertini

7

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Hanns Lochmüller

21

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Juan J. Vílchez

Juan J Vilchez

3

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Adele D'Amico

Adele D'Amico

6

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Mustafa A. Salih

Mustafa A Salih

4

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Angela Abicht

20

Angela Abicht

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author name string

Violeta Mihaylova

1

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Juliane S Müller

2

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Mohammad M Kabiraj

5

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Joachim Wölfle

8

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Felix Schreiner

9

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Gerhard Kurlemann

10

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Vedrana Milic Rasic

11

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Dana Siskova

12

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Jaume Colomer

13

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Agnes Herczegfalvi

14

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Katarina Fabriciova

15

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Bernhard Weschke

16

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Rosana Scola

17

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Friederike Hoellen

18

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Ulrike Schara

19

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language of work or name

English

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publication date

7 January 2008

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25 December 2017

published in

Brain

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25 December 2017

volume

131

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issue

Pt 3

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25 December 2017

page(s)

747-759

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25 December 2017

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

cites work

1 reference

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Dok-7 mutations underlie a neuromuscular junction synaptopathy

21 January 2018

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Congenital endplate acetylcholinesterase deficiency responsive to ephedrine

21 January 2018

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Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine

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Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes

21 January 2018

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Two different heparin-binding domains in the triple-helical domain of ColQ, the collagen tail subunit of synaptic acetylcholinesterase

21 January 2018

1 reference

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

21 January 2018

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A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release

21 January 2018

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Congenital myasthenic syndromes: progress over the past decade.

21 January 2018

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Sleuthing molecular targets for neurological diseases at the neuromuscular junction

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Current understanding of congenital myasthenic syndromes

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Acetylcholinesterase and molecular interactions at the neuromuscular junction

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Congenital endplate acetylcholinesterase deficiency

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Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

21 January 2018

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C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse

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The mammalian gene of acetylcholinesterase-associated collagen.

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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

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Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission

21 January 2018

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Synaptic Congenital Myasthenic Syndrome in Three Patients due to a Novel Missense Mutation (T441A) of theCOLQGene

21 January 2018

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

21 January 2018

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Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

21 January 2018

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Clinical features of the DOK7 neuromuscular junction synaptopathy

21 January 2018

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Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.

21 January 2018

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Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWM325

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25 December 2017

PubMed ID

18180250

1 reference

25 December 2017