(Q28268445)

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Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients

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Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients (English)

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congenital disorder

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inferred from title

Velina Guergueltcheva

4

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Hanns Lochmüller

object named as

Hanns Lochmüller

14

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1

object named as

Angela Abicht

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Maja von der Hagen

10

object named as

Maja von der Hagen

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author name string

Marina Dusl

2

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Constanze Gallenmüller

3

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Ulrike Schara

5

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Adele Della Marina

6

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Eva Wibbeler

7

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Sybille Almaras

8

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Violeta Mihaylova

9

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Angela Huebner

11

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Amina Chaouch

12

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Juliane S Müller

13

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language of work or name

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publication date

October 2012

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33

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10

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1474-84

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A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome

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Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients

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

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Congenital myasthenic syndromes and the formation of the neuromuscular junction

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A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

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

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New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

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What have we learned from the congenital myasthenic syndromes

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Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

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Congenital myasthenic syndromes

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Congenital myasthenic syndromes in childhood: diagnostic and management challenges

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Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia

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

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Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

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Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

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The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder

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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

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Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients

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

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E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome

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The congenital myasthenic syndromes

1 reference

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Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes

1 reference

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The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

1 reference

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Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

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Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

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Therapeutic strategies in congenital myasthenic syndromes

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

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

1 reference

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Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

1 reference

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Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

1 reference

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DOK7 mutations presenting as a proximal myopathy in French Canadians

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Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis

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Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22130

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22130

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22130

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

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PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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