about
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanMutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophyISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeMutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanExon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation studyLocal restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept studyEPMA-World Congress 2015CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationUnraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
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description
hulumtues
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onderzoeker
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researcher
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հետազոտող
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Sebahattin Cirak
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Sebahattin Cirak
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Sebahattin Cirak
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Sebahattin Cirak
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Sebahattin Cirak
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Sebahattin Cirak
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Sebahattin Cirak
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Sebahattin Cirak
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Sebahattin Cirak
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Sebahattin Cirak
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Sebahattin Cirak
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Sebahattin Cirak
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Sebahattin Cirak
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Sebahattin Cirak
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Sebahattin Cirak
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