Publications by authors named "Sebahattin Cirak"

98Publications

Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.

Am J Med Genet A 2020 Oct 13. Epub 2020 Oct 13.

Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61917DOI Listing
October 2020

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.

J Hum Genet 2020 Nov 12;65(11):1003-1017. Epub 2020 Aug 12.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, Center for Molecular Medicine Cologne (CMMC), Center for Rare Diseases, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1038/s10038-020-0803-1DOI Listing
November 2020

Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.

Am J Med Genet A 2020 Oct 9;182(10):2450-2453. Epub 2020 Jul 9.

Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61762DOI Listing
October 2020

Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy.

Acta Neuropathol Commun 2019 12 18;7(1):211. Epub 2019 Dec 18.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937, Cologne, Germany.

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http://dx.doi.org/10.1186/s40478-019-0869-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6921565PMC
December 2019

Novel mutations in with benign course in hyperekplexia.

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany.

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http://dx.doi.org/10.1101/mcs.a004465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913151PMC
December 2019

Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.

Neuropediatrics 2019 12 18;50(6):378-381. Epub 2019 Jul 18.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1055/s-0039-1693143DOI Listing
December 2019

Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.

Hum Mol Genet 2019 09;28(17):2885-2899

Department of Chemistry, Institute for Biochemistry, University of Cologne, 50674 Cologne, Germany.

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http://dx.doi.org/10.1093/hmg/ddz109DOI Listing
September 2019

Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features.

Mol Cell Probes 2019 06 15;45:89-93. Epub 2019 Mar 15.

University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Division of Pediatric Neurology, Germany; University of Cologne, Medical Faculty, Center for Molecular Medicine Cologne (CMMC), Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2019.03.002DOI Listing
June 2019

Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia.

Turk J Pediatr 2019 ;61(6):931-936

Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University School of Medicine, İzmir.

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http://dx.doi.org/10.24953/turkjped.2019.06.015DOI Listing
August 2020

Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD.

Mol Ther Nucleic Acids 2018 Dec 10;13:534-542. Epub 2018 Oct 10.

Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne 50931, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2018.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6222172PMC
December 2018

ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.

Neuromuscul Disord 2018 09 30;28(9):741-749. Epub 2018 Jun 30.

Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.05.012DOI Listing
September 2018

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.

J Neurol Sci 2018 08 22;391:31-39. Epub 2018 May 22.

Département de Neurochirurgie, Centre Hospitalier Régional Montpellier, France; Unité de Recherche sur les Comportements et Mouvements Anormaux (URCMA), France; UMR 5203 CNRS-U1191 INSERM-UM-Institut de Génomique Fonctionnelle - IGF, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.05.018DOI Listing
August 2018

Vibration-Assisted Home Training Program for Children With Spinal Muscular Atrophy.

Child Neurol Open 2018 10;5:2329048X18780477. Epub 2018 Jun 10.

Children's and Adolescent's Hospital, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1177/2329048X18780477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6024344PMC
June 2018

A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation.

Brain Dev 2018 Jun 2;40(6):480-483. Epub 2018 Mar 2.

Center for Molecular Medicine Cologne, Cologne, Germany; Department of Pediatrics, University Hospital of Cologne, Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.02.008DOI Listing
June 2018

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2.

Turk J Pediatr 2017 ;59(3):338-341

Institut für Humangenetik am Universitätsklinikum, Köln, Germany.

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http://dx.doi.org/10.24953/turkjped.2017.03.018DOI Listing
December 2018

A boy with neck weakness.

Neuromuscul Disord 2018 03 5;28(3):236-237. Epub 2017 Dec 5.

Department of Pediatrics, University Hospital Cologne, Kerpener Str. 62, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany.

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http://dx.doi.org/10.1016/j.nmd.2017.11.016DOI Listing
March 2018

Late diagnosis of a truncating mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.

Cold Spring Harb Mol Case Stud 2018 02 1;4(1). Epub 2018 Feb 1.

Center for Molecular Medicine Cologne (CMMC), 50931 Cologne, Germany.

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http://dx.doi.org/10.1101/mcs.a002139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793772PMC
February 2018

Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.

Neuromuscul Disord 2017 Sep 24;27(9):836-842. Epub 2017 May 24.

Department of Pediatrics, University Hospital Cologne, Kerpener Str. 62, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.05.014DOI Listing
September 2017

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.

Authors:
Rhea van den Bruck Patrick P Weil Thomas Ziegenhals Philipp Schreiner Stefan Juranek Daniel Gödde Silvia Vogel Frauke Schuster Valerie Orth Johannes Dörner Daniel Pembaur Meike Röper Stefan Störkel Hubert Zirngibl Stefan Wirth Andreas C W Jenke Jan Postberg Nikolas Boy Jana Heringer Gisela Haege Esther M Glahn Georg F Hoffmann Sven F Garbade Peter Burgard Stefan Kölker Cho-Ming Chao Faady Yahya Alena Moiseenko Amit Shrestha Negah Ahmadvand Jennifer Quantius Jochen Wilhelm Elie El-Agha Klaus-Peter Zimmer Saverio Bellusci Christian Staufner Stefan Kölker Holger Prokisch Georg F Hoffmann Stephan Seeliger Matthias Müller Andreas Hippe Henrik Steinkraus Roland Wauer Burkhard Lachmann Sigrun R Hofmann Christian M Hedrich Jakob Zierk Farhad Arzideh Rainer Haeckel Wolfgang Rascher Manfred Rauh Markus Metzler Sebastian Thieme Joanna Bandoła Cornelia Richter Martin Ryser Arshad Jamal Michelle P Ashton Malte von Bonin Matthias Kuhn Christian M Hedrich Ezio Bonifacio Reinhard Berner Sebastian Brenner Johanna Hammersen Cristina Has Nora Naumann-Bartsch Daniel Stachel Dimitra Kiritsi Stephan Söder Mathilde Tardieu Markus Metzler Leena Bruckner-Tuderman Holm Schneider F Bohne D Langer R Cencic T Eggermann U Zechner J Pelletier F Zepp T Enklaar D Prawitt Martin Pech Markus Weckmann Femke-Anouska Heinsen Andre Franke Christine Happle Anna-Maria Dittrich Gesine Hansen Oliver Fuchs Erika von Mutius Brian G Oliver Matthias V Kopp Claudia Paret Alexandra Russo Johanna Theruvath Bettina Keller Khalifa El Malki Nadine Lehmann Arthur Wingerter Marie A Neu Gerhold-Ay Aslihan Wolfgang Wagner Clemens Sommer Torsten Pietsch Larissa Seidmann Jörg Faber Felix Schreiner Merle Ackermann Michael Michalik Eva Rother Andras Bilkei-Gorzo Ildiko Racz Laura Bindila Beat Lutz Jörg Dötsch Andreas Zimmer Joachim Woelfle Hendrik S Fischer Tim L Ullrich Christoph Bührer Christoph Czernik Gerd Schmalisch Robert Stein Sigrun R Hofmann Judith Hagenbuchner Ursula Kiechl-Kohlendorfer Petra Obexer Michael J Ausserlechner Niki T Loges Adrien Tobias Frommer Julia Wallmeier Heymut Omran Soner Öner-Sieben Martina Gimpfl Jan Rozman Martin Irmler Johannes Beckers Martin Hrabe De Angelis Adelbert Roscher Eckhard Wolf Regina Ensenauer Karolina Nemes Michael Frühwald Martin Hasselblatt Reiner Siebert Uwe Kordes Marcel Kool Haicui Wang Holly Hardy Osama Refai Katy E S Barwick Holly H Zimmerman Joachim Weis Emma L Baple Andrew H Crosby Sebahattin Cirak C Hellmuth O Uhl M Standl J Heinrich E Thiering B Koletzko Lena Blümel Kornelius Kerl Daniel Picard Michael C Frühwald Max C Liebau Guido Reifenberger Arndt Borkhardt Martin Hasselblatt Marc Remke D Tews M Wabitsch P Fischer-Posovszky Mike-Andrew Westhoff Lisa Nonnenmacher Julia Langhans Lukas Schneele Nancy Trenkler Klaus-Michael Debatin

Mol Cell Pediatr 2017 May;4(Suppl 1)

Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.

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http://dx.doi.org/10.1186/s40348-017-0071-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435609PMC
May 2017

Acanthocytosis and HyperCKemia

Turk J Haematol 2018 11 17;35(4):296-297. Epub 2017 May 17.

University Hospital Cologne, Department of Pediatrics, Cologne, Germany

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http://dx.doi.org/10.4274/tjh.2017.0142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6256827PMC
November 2018

Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation.

Neuromuscul Disord 2017 Mar 23;27(3):239-242. Epub 2016 Dec 23.

Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.12.008DOI Listing
March 2017

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

Brain Dev 2017 Apr 19;39(4):361-364. Epub 2016 Nov 19.

Children's National Medical Center, Research Center for Genetic Medicine, 20010 Washington DC, USA; University Children's Hospital Cologne, 50931 Cologne, Germany; Center for Molecular Medicine, 50931 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2016.11.002DOI Listing
April 2017

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

Am J Hum Genet 2016 Nov 27;99(5):1206-1216. Epub 2016 Oct 27.

Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097934PMC
November 2016

216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The Netherlands.

Neuromuscul Disord 2016 10 24;26(10):717-724. Epub 2016 Aug 24.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.nmd.2016.08.012DOI Listing
October 2016

Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice.

Neurology 2016 Aug 20;87(8):799-805. Epub 2016 Jul 20.

From the Department of Neurology (H.D., F.D., Y.P., P.S.-O.), Faculty of Medicine, Istanbul University; Department of Molecular Biology and Genetics (Ö.A., A.T.), Boğaziçi University, Istanbul, Turkey; Children's National Medical Center (S.Ç.), Research Center for Genetic Medicine, Washington, DC; Department of Pediatrics, Institute for Human Genetics, and Center for Molecular Medicine, University Hospital Cologne; Institute of Clinical Molecular Biology (A.F., G.H.-S.), Christian-Albrechts-University of Kiel; Institute of Biochemistry (N.E., S.H.), Institute of Neuropathology (F.C., R.S.), and Department of Ophthalmology (U.S.-S.), Friedrich-Alexander-University of Erlangen-Nuremberg; and Center for Biochemistry, Institute of Biochemistry I, Medical Faculty (C.S.C.), University of Cologne, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000003004DOI Listing
August 2016

DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.

Neurology 2016 07 24;87(4):401-9. Epub 2016 Jun 24.

From the Children's National Health System (L.B., L.P.M., H.G.-D., E.P.H., S.C.), Washington, DC; Department of Neuroscience (L.B.), University of Padova, Italy; University of California Davis Medical Center (C.M.M.), Sacramento; and Institute of Human Genetics (S.C.), University Children's Hospital, and Center of Molecular Medicine, University of Cologne, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000002891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977110PMC
July 2016

Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis.

Mol Cell Pediatr 2016 Dec 17;3(1):22. Epub 2016 Jun 17.

Department of Pediatrics, University Hospital Cologne, Kerpener Str. 62, 50937, Cologne, Germany.

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http://dx.doi.org/10.1186/s40348-016-0050-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912540PMC
December 2016

Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.

Neuropediatrics 2016 Aug 23;47(4):273-7. Epub 2016 May 23.

Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.

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http://dx.doi.org/10.1055/s-0036-1584084DOI Listing
August 2016

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.

Biomed Res Int 2016 31;2016:3128735. Epub 2016 Mar 31.

University Hospital of Cologne, Institute of Human Genetics, 50931 Cologne, Germany; University Hospital of Cologne, Department of Pediatrics, 50931 Cologne, Germany; Center for Molecular Medicine, 50931 Cologne, Germany.

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http://dx.doi.org/10.1155/2016/3128735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830701PMC
January 2017

Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.

J Hum Genet 2016 Jun 18;61(6):571-3. Epub 2016 Feb 18.

Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.

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http://dx.doi.org/10.1038/jhg.2016.6DOI Listing
June 2016

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.

Neuromuscul Disord 2015 Sep 13;25(9):713-8. Epub 2015 Jul 13.

Department of Neurology, University Hospital Alexandrovska, Sofia Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.nmd.2015.07.004DOI Listing
September 2015

Development of end-stage renal disease at a young age in two cases with Joubert syndrome.

Turk J Pediatr 2014 Jul-Aug;56(4):458-61

Division of Pediatric Nephrology, Department of Pediatrics, Adnan Menderes University Faculty of Medicine, Aydın, Turkey.

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March 2016

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Neurology 2015 Feb 21;84(7):668-79. Epub 2015 Jan 21.

From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.

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http://www.neurology.org/content/84/7/668.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000126
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http://dx.doi.org/10.1212/WNL.0000000000001269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336105PMC
February 2015

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.

Pediatr Neurol 2015 Feb 5;52(2):239-44. Epub 2014 Oct 5.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC; Department of Neurology and Neurological Sciences, Stanford University Medical Center, Palo Alto, California. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351714PMC
February 2015

What Can We Learn From Clinical Trials of Exon Skipping for DMD?

Mol Ther Nucleic Acids 2014 Mar 11;3:e152. Epub 2014 Mar 11.

Center for Genetic Medicine, Children's National Medical Center, NW, Washington, DC, USA.

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http://dx.doi.org/10.1038/mtna.2014.6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027981PMC
March 2014

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

JAMA Neurol 2013 Dec;70(12):1556-61

Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, England13Department of Molecular Neuroscience, University College London Institute o.

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http://dx.doi.org/10.1001/jamaneurol.2013.3242DOI Listing
December 2013

Heterogeneity of Marinesco-Sjögren syndrome: report of two cases.

Pediatr Neurol 2011 Dec;45(6):409-11

Department of Pediatric Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.08.015DOI Listing
December 2011

Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies.

Hum Mol Genet 2011 May 11;20(9):1763-75. Epub 2011 Feb 11.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://dx.doi.org/10.1093/hmg/ddr059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071672PMC
May 2011

Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle.

PLoS One 2010 Dec 28;5(12):e14434. Epub 2010 Dec 28.

Dubowitz Neuromuscular Centre, University College London Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0014434PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3010994PMC
December 2010

Cockroach allergens Per a 3 are oligomers.

Dev Comp Immunol 2010 Jul 31;34(7):722-33. Epub 2010 Jan 31.

Institute for Molecular Biophysics, University of Mainz, Jakob Welder Weg 26, Mainz, Germany.

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http://dx.doi.org/10.1016/j.dci.2010.01.011DOI Listing
July 2010

Pitfall of identifying a disease locus by using low-resolution SNP arrays.

J Mol Genet Med 2010 22;5:264-5. Epub 2011 Nov 22.

Department of Medical Biology, Hacettepe University Faculty of Medicine, Sihhiye 06100, Ankara, Turkey.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234172PMC
October 2012

Evidence for dynamic interplay of different oligomeric states of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase by biophysical methods.

J Mol Biol 2007 Jun 21;369(3):746-58. Epub 2007 Mar 21.

Charité Universitätsmedizin Berlin, Campus Benjamin Franklin, Institut für Biochemie und Molekularbiologie, Arnimallee 22, 14195 Berlin-Dahlem, Germany.

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http://dx.doi.org/10.1016/j.jmb.2007.03.037DOI Listing
June 2007

Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.

Biochemistry 2006 Mar;45(9):2968-77

Charité-Universitätsmedizin Berlin, Campus Benjamin Franklin, Institut für Biochemie und Molekularbiologie, Arnimallee 22, 14195 Berlin-Dahlem, Germany.

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http://dx.doi.org/10.1021/bi0522504DOI Listing
March 2006