Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients
about
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatmentThe MuSK activator agrin has a separate role essential for postnatal maintenance of neuromuscular synapses.A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy.Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness.Defective N-linked protein glycosylation pathway in congenital myasthenic syndromesExpanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.Fatigue in Rapsyn-Deficient Zebrafish Reflects Defective Transmitter ReleaseA Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese FamilyNicotinic acetylcholine receptors in human genetic disease.Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.Copy number analysis reveals a novel multiexon deletion of the COLQ gene in congenital myasthenia.Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.Clinical and research strategies for limb-girdle congenital myasthenic syndromes.Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.Late presentations of congenital myasthenic syndromes: How many do we miss?Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.
P2860
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P2860
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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2012 nî lūn-bûn
@nan
2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Congenital myasthenic syndrome ...... ctice: a study of 680 patients
@ast
Congenital myasthenic syndrome ...... ctice: a study of 680 patients
@en
Congenital myasthenic syndrome ...... ctice: a study of 680 patients
@nl
type
label
Congenital myasthenic syndrome ...... ctice: a study of 680 patients
@ast
Congenital myasthenic syndrome ...... ctice: a study of 680 patients
@en
Congenital myasthenic syndrome ...... ctice: a study of 680 patients
@nl
prefLabel
Congenital myasthenic syndrome ...... ctice: a study of 680 patients
@ast
Congenital myasthenic syndrome ...... ctice: a study of 680 patients
@en
Congenital myasthenic syndrome ...... ctice: a study of 680 patients
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Congenital myasthenic syndrome ...... ctice: a study of 680 patients
@en
P2093
Adele Della Marina
Amina Chaouch
Angela Huebner
Constanze Gallenmüller
Eva Wibbeler
Juliane S Müller
Maja von der Hagen
Marina Dusl
Sybille Almaras
Ulrike Schara
P2860
P304
P3181
P356
10.1002/HUMU.22130
P407
P577
2012-10-01T00:00:00Z