The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
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Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle functionAltered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.Nebulin, a major player in muscle health and diseaseMutation update: the spectra of nebulin variants and associated myopathies.Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.The sarcomeric protein nebulin: another multifunctional giant in charge of muscle strength optimizationNext generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthDeleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.Myopathology in congenital myopathies.A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.NEB-related core-rod myopathy with distinct clinical and pathological features.Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy.An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders
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P2860
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 15 February 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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The exon 55 deletion in the ne ...... on with world-wide occurrence.
@en
The exon 55 deletion in the ne ...... on with world-wide occurrence.
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type
label
The exon 55 deletion in the ne ...... on with world-wide occurrence.
@en
The exon 55 deletion in the ne ...... on with world-wide occurrence.
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The exon 55 deletion in the ne ...... on with world-wide occurrence.
@en
The exon 55 deletion in the ne ...... on with world-wide occurrence.
@nl
P2093
P2860
P1476
The exon 55 deletion in the ne ...... on with world-wide occurrence.
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P2093
Alan H Beggs
Carina Wallgren-Pettersson
Elizabeth T DeChene
Katarina Pelin
Mutsumi Kellinsalmi
Nigel G Laing
Rebecca S Greenleaf
Vilma-Lotta Lehtokari
P2860
P304
P356
10.1016/J.NMD.2008.12.001
P577
2009-02-15T00:00:00Z