Hülya Gündeşli

A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

Yuji Hara, Burcu Balcı-Hayta, Takako Yoshida‐Moriguchi et al. · New England Journal of Medicine · 2011 · 283 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

Hülya Gündeşli, Beril Talim, Petek Korkusuz et al. · The American Journal of Human Genetics · 2010 · 126 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

Gulsum Kayman-Kurekci, Beril Talim, Petek Korkusuz et al. · Neuromuscular Disorders · 2014 · 81 citations · Full text

Medicine, Genetics, Molecular Genetics +13

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies

Nilgün Çetin, Burcu Balcı-Hayta, Hülya Gündeşli et al. · Journal of Medical Genetics · 2013 · 72 citations

Medicine, Genetics, Molecular Genetics +16

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H

Mireille Cossée, Clotilde Lagier‐Tourenne, Claire Seguela et al. · Neuromuscular Disorders · 2009 · 31 citations

Life Sciences, Genetics, Molecular Genetics +13