Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores
about
Pathogenic mechanisms in centronuclear myopathiesDeuterosome-mediated centriole biogenesisSwimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.Kelch proteins: emerging roles in skeletal muscle development and diseases.Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusThe transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle diseaseLeiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.Integrative data mining highlights candidate genes for monogenic myopathies.Arrest is a regulator of fiber-specific alternative splicing in the indirect flight muscles of DrosophilaTriadopathies: an emerging class of skeletal muscle diseases.Reverse genetic screening reveals poor correlation between morpholino-induced and mutant phenotypes in zebrafish.DNM2 mutations in a cohort of sporadic patients with centronuclear myopathyNext generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthAnalysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye.Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratoriesThe myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish.Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Myopathology in times of modern imaging.Next generation sequencing (NGS) strategies for the genetic testing of myopathies.Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal AbnormalitiesCongenital myopathies: clinical phenotypes and new diagnostic tools.Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.Centronuclear myopathies under attack: A plethora of therapeutic targets
P2860
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P2860
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores
description
2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին 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
Dominant mutation of CCDC78 in ...... rnal nuclei and atypical cores
@ast
Dominant mutation of CCDC78 in ...... rnal nuclei and atypical cores
@en
Dominant mutation of CCDC78 in ...... rnal nuclei and atypical cores
@en-gb
Dominant mutation of CCDC78 in ...... rnal nuclei and atypical cores
@nl
type
label
Dominant mutation of CCDC78 in ...... rnal nuclei and atypical cores
@ast
Dominant mutation of CCDC78 in ...... rnal nuclei and atypical cores
@en
Dominant mutation of CCDC78 in ...... rnal nuclei and atypical cores
@en-gb
Dominant mutation of CCDC78 in ...... rnal nuclei and atypical cores
@nl
prefLabel
Dominant mutation of CCDC78 in ...... rnal nuclei and atypical cores
@ast
Dominant mutation of CCDC78 in ...... rnal nuclei and atypical cores
@en
Dominant mutation of CCDC78 in ...... rnal nuclei and atypical cores
@en-gb
Dominant mutation of CCDC78 in ...... rnal nuclei and atypical cores
@nl
P2093
P2860
P1476
Dominant mutation of CCDC78 in ...... rnal nuclei and atypical cores
@en
P2093
Alan H Beggs
Ann E Davidson
James J Dowling
Karen Majczenko
Margit Burmeister
Pankaj B Agrawal
Richard A Manfready
Sandra Camelo-Piragua
P2860
P304
P356
10.1016/J.AJHG.2012.06.012
P407
P577
2012-08-10T00:00:00Z