Articles with public access mandates - Sebahattin CirakLearn more
Not available anywhere: 16
Review
SEPN1-related myopathies: Clinical course in a large cohort of patients
M Scoto, S Cirak, R Mein, L Feng, AY Manzur, S Robb, AM Childs, ...
Neurology 76 (24), 2073-2078, 2011
Mandates: US National Institutes of Health
Review
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy
J Penner, LR Mantey, S Elgavish, D Ghaderi, S Cirak, M Berger, S Krause, ...
Biochemistry 45 (9), 2968-2977, 2006
Mandates: German Research Foundation
Review
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement
T Cullup, PJ Lamont, S Cirak, MS Damian, W Wallefeld, R Gooding, ...
Neuromuscular Disorders 22 (12), 1096-1104, 2012
Mandates: National Health and Medical Research Council, Australia
Review
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia
A Koy, S Cirak, V Gonzalez, K Becker, T Roujeau, C Milesi, J Baleine, ...
Journal of the Neurological Sciences 391, 31-39, 2018
Mandates: German Research Foundation
Review
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation
D Bamborschke, M Pergande, K Becker, F Koerber, J Dötsch, A Vierzig, ...
Brain and Development 40 (6), 480-483, 2018
Mandates: German Research Foundation
Review
Evidence for dynamic interplay of different oligomeric states of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase by biophysical methods
D Ghaderi, HM Strauss, S Reinke, S Cirak, W Reutter, L Lucka, ...
Journal of molecular biology 369 (3), 746-758, 2007
Mandates: German Research Foundation
Review
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype
R Quinlivan, S Mitsuahashi, C Sewry, S Cirak, C Aoyama, D Mooore, ...
Neuromuscular Disorders 23 (7), 549-556, 2013
Mandates: UK Medical Research Council
Review
PNPT1 mutations may cause Aicardi-Goutières-Syndrome
D Bamborschke, M Kreutzer, A Koy, F Koerber, N Lucas, C Huenseler, ...
Brain and Development 43 (2), 320-324, 2021
Mandates: German Research Foundation
Review
Novel mutations in the nonselective sodium leak channel (NALCN) lead to distal arthrogryposis with increased muscle tone
M Karakaya, R Heller, V Kunde, KP Zimmer, CM Chao, P Nürnberg, ...
Neuropediatrics 47 (04), 273-277, 2016
Mandates: German Research Foundation
Review
Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA
P Karaoglu, N Quizon, M Pergande, H Wang, AI Polat, A Ersen, E Özer, ...
Brain and Development 39 (4), 361-364, 2017
Mandates: German Research Foundation
Review
Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation
D Ardicli, R Gocmen, B Talim, R Sprute, G Haliloglu, S Cirak, H Topaloglu
Neuromuscular Disorders 27 (3), 239-242, 2017
Mandates: German Research Foundation
Review
Use of whole exome sequencing in the NICU: case of an extremely low birth weight infant with syndromic features
B Kuehne, E Heine, HS Dafsari, R Irwin, R Heller, U Bangen, ...
Molecular and cellular probes 45, 89-93, 2019
Mandates: German Research Foundation
Review
Cleft palate as distinguishing feature in a patient with GABRB3 epileptic encephalopathy
D Bamborschke, M Pergande, HS Daimagueler, E Mangold, J Doetsch, ...
Neuropediatrics 50 (06), 378-381, 2019
Mandates: German Research Foundation
Review
Genomic profiling in neuronal dyneinopathies and updated classifications
HS Dafsari, LL Becker, M von der Hagen, S Cirak
American Journal of Medical Genetics Part A 185 (8), 2607-2610, 2021
Mandates: German Research Foundation
Review
Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies
C Paketci, M Karakaya, P Edem, E Bayram, N Keller, HS Daimagüler, ...
Revue Neurologique 176 (10), 846-855, 2020
Mandates: Research Foundation (Flanders), German Research Foundation
Review
A boy with neck weakness
U Yiş, K Becker, S Çırak
Neuromuscular Disorders 28 (3), 236-237, 2018
Mandates: German Research Foundation
Available somewhere: 89
Review
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
Mandates: Swiss National Science Foundation, US National Institutes of Health, US …
Review
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2 …
S Cirak, V Arechavala-Gomeza, M Guglieri, L Feng, S Torelli, K Anthony, ...
The Lancet 378 (9791), 595-605, 2011
Mandates: British Heart Foundation
Review
The UK10K project identifies rare variants in health and disease
Statistics group Ciampi Antonio 8 Greenwood Celia MT (co-chair) 7 8 14 19 ...
Nature 526 (7571), 82-90, 2015
Mandates: UK Biotechnology and Biological Sciences Research Council, British Heart …
Review
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ...
Nature communications 6 (1), 8111, 2015
Mandates: Canadian Institutes of Health Research, Fonds de recherche du Québec - Santé …
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