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Gökhan Uyanik
Sigmund Freud University Vienna
MicrocephalyMutationGeneticsMedicineBiology
60Publications
19H-index
1,654Citations
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Publications 61
Newest
#1Bastian OpplH-Index: 6
#2Emma Husar-MemmerH-Index: 4
Last. Christian Datz (Paracelsus Private Medical University of Salzburg)H-Index: 39
view all 14 authors...
Objective Despite the high frequency of HFE gene mutations in Western Europe, widespread screening for HFE hemochromatosis is not recommended due to its variable phenotype. Joint pain and a premature osteoarthritis-like disease including the hip joints are the most frequent manifestation in patients with HFE hemochromatosis and iron overload. Therefore, screening of patients with severe osteoarthritis of the hip could identify patients with HFE hemochromatosis. Methods In this prospective cross-...
Source
#1Uluç YişH-Index: 19
1 Citations
#1K.M. Roetzer (Sigmund Freud University Vienna)H-Index: 1
#2Gökhan Uyanik (Sigmund Freud University Vienna)H-Index: 19
Last. K. KlaushoferH-Index: 22
view all 9 authors...
Abstract The Wnt signalling pathway is a critical regulator of bone mass and quality. Several heterozygous mutations in the LRP5 gene, a Wnt co-receptor, causing high bone mass (LRP5-HBM) have been described to date. The pathogenic mechanism is thought to be a gain-of-function caused by impaired inhibition of the canonical Wnt signalling pathway, thereby leading to increased bone formation. We report the cases of two affected family members, a 53-year-old mother and her 23-year-old daughter, wit...
3 CitationsSource
#1Uluç YişH-Index: 19
#2Kerstin BeckerH-Index: 9
Last. Andrew G. EngelH-Index: 91
view all 16 authors...
Source
#1Uluç Yiş (Dokuz Eylül University)H-Index: 19
#2Kerstin Becker (University of Cologne)H-Index: 9
Last. Andrew G. Engel (Mayo Clinic)H-Index: 91
view all 16 authors...
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, the authors report on cases with genetically proven congenital myasthenic syndromes from Turkey. The authors retrospectively reviewed their experience of all patients with congenital myasthenic syndromes, referred over a 5-year period (2011-20...
4 CitationsSource
#1Uluç Yiş (Dokuz Eylül University)H-Index: 19
#2Gökhan Uyanik (UHH: University of Hamburg)H-Index: 19
Last. Semra Hiz Kurul (Dokuz Eylül University)H-Index: 16
view all 8 authors...
BACKGROUND: To evaluate clinical, genetic, and radiologic features of our patients with muscle-eye-brain disease. METHODS: The data of patients who were diagnosed with muscle-eye-brain disease from a cohort of patients with congenital muscular dystrophy in the Division of Pediatric Neurology of Dokuz Eylul University School of Medicine and Gaziantep Children’s Hospital between 2005 and 2013 were analyzed retrospectively. RESULTS: From a cohort of 34 patients with congenital muscular dystrophy, 1...
9 CitationsSource
#1Ferah SönmezH-Index: 11
#2Güzünler-Şen MH-Index: 1
Last. Gökhan UyanikH-Index: 19
view all 7 authors...
3 Citations
#1M. Krieger (RWTH Aachen University)H-Index: 3
#2Andreas Roos (RWTH Aachen University)H-Index: 11
Last. Jan Senderek (LMU: Ludwig Maximilian University of Munich)H-Index: 40
view all 34 authors...
Marinesco-Sjogren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjogren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts an...
38 CitationsSource
#1Ute MoogH-Index: 29
#2Gökhan UyanikH-Index: 19
Last. Kerstin KutscheH-Index: 32
view all 3 authors...
4 Citations
#1Ute MoogH-Index: 29
#2Gökhan UyanikH-Index: 19
Last. Kerstin KutscheH-Index: 32
view all 3 authors...
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