Publications by authors named "Jonas Denecke"

53Publications

The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation.

Neuropediatrics 2020 Aug 20. Epub 2020 Aug 20.

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1055/s-0040-1710588DOI Listing
August 2020

Defining and expanding the phenotype of -associated developmental epileptic encephalopathy.

Neurol Genet 2019 Dec 10;5(6):e373. Epub 2019 Dec 10.

Department of Epilepsy Genetics and Precision Medicine (K.J.M., E.G., G.R., R.S.M.), The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Institute for Regional Health Services (K.J.M., E.G., R.S.M.), University of Southern Denmark, Odense; Institute of Human Genetics (D.M., R. Jamra, A.F., J.R.L.), University of Leipzig Medical Center, Germany; Institute of Structural Biology (R. Janowski, D.N.), Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany; Department of Paediatric Radiology (C.R.), University of Leipzig Medical Center, Germany; Department of Epilepsy, Sleep and Pediatric Neurophysiology (J.T.), Lyon University Hospital, France; Neuropediatric Unit (A.-L.P., D.M.V., G.L.), Lyon University Hospital, France; Department of Medical Genetics (N.C., G.L.), Lyon University Hospital, France; GenDev Team (N.C.), CNRS UMR 5292, INSERM U1028, CNRL and University of Lyon, France; Department of Genetics (E.B.), University Medical Center Utrecht, The Netherlands; Department of Child Neurology (K.G.), Brain Center Rudolf Magnus, University Medical Center Utrecht, The Netherlands; Department of Paediatrics (A.P.B.), Copenhagen University Hospital Rigshospitalet, Denmark; Baylor College of Medicine (S.M., K.N.), Children's Hospital of San Antonio; Undiagnosed Diseases Program (G.B., C.P.), Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth; Western Australian Register of Developmental Anomalies (G.B., D.G.), Australia; Telethon Kids Institute and the School of Paediatrics and Child Health (G.B.), University of Western Australia, Perth; Linear Clinical Research (L.D.), WA, Australia; Center of Human Genetics (S.S), Jena University Hospital, Germany; Department of Neuropediatrics (A.D.), Jena University Hospital, Germany; Division of Neurology (K.L.H.), Children's Hospital of Philadelphia, PA; Division of Neuropediatrics (A.M.), University of Leipzig Medical Center, Germany; Amplexa Genetics (H.H.), Odense, Denmark; Clinic for Children (H.H.), Værløse, Denmark; Center for Integrative Brain Research (G.M.), Seattle Children's Research Institute, WA; Department of Pediatrics (G.M.), University of Washington, Seattle; Medical Genetics Unit (F.B.), Department of Life, Health and Environmental Sciences, University of L'Aquila, Italy; Istituto Dermopatico dell'Immacolata (F.B.), IDI-IRCCS, Rome, Italy; Institute of Human Genetics (T.B., M.H.), University Medical Center Hamburg-Eppendorf, Germany; Childrens Hospital (J.D.), University Medical Center Hamburg-Eppendorf, Germany; University of Copenhagen (G.R.), Denmark; Institute for Human Genetics (P.M.), University Hospital Magdeburg, Germany; Children's Hospital A. Meyer (R.G., A.V.), University of Florence, Italy; and Institute of Pharmaceutical Biotechnology (D.N.), Ulm University, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927360PMC
December 2019

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Exome Sequencing in Children.

Dtsch Arztebl Int 2019 03;116(12):197-204

*Joint last authors; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf; Department of Pediatrics, University Medical Center Hamburg-Eppendorf; Institute of Human Genetics, Klinikum Rechts der Isar, TUM, Munich; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen; Institute of Human Genetics, Helmholtz Center Munich; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE).

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http://dx.doi.org/10.3238/arztebl.2019.0197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514384PMC
March 2019

A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia.

J Neurol Sci 2019 01 22;396:199-201. Epub 2018 Nov 22.

Institute of Neurogenetics, University of Lübeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.11.024DOI Listing
January 2019

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Am J Hum Genet 2018 10;103(4):579-591

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174322PMC
October 2018

[The Need for Psychosocial Support in Parents of Chronically Ill Children].

Prax Kinderpsychol Kinderpsychiatr 2017 Nov;66(9):687-701

Universitätsklinikum Hamburg-Eppendorf Klinik für Kinder- und Jugendpsychiatrie, -psychotherapie und -psychosomatik Martinistraße 52 20246 Hamburg Deutschland UKE - Kinder- und Jugendpsychiatrie.

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http://dx.doi.org/10.13109/prkk.2017.66.9.687DOI Listing
November 2017

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Am J Med Genet A 2017 Nov 8;173(11):3098-3103. Epub 2017 Sep 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659324PMC
November 2017

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

Eur J Med Genet 2017 Sep 4;60(9):494-498. Epub 2017 Jul 4.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173016
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http://dx.doi.org/10.1016/j.ejmg.2017.07.001DOI Listing
September 2017

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy.

Bone 2017 Oct 1;103:136-143. Epub 2017 Jul 1.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529 Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2017.06.025DOI Listing
October 2017

Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins.

Pediatr Neonatol 2017 10 22;58(5):458-459. Epub 2016 Nov 22.

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1016/j.pedneo.2016.05.007DOI Listing
October 2017

Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease.

Neuropediatrics 2016 Jun 4;47(3):194-6. Epub 2016 Apr 4.

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1055/s-0036-1579784DOI Listing
June 2016

Brainstem disconnection: two additional patients and expansion of the phenotype.

Neuropediatrics 2015 Apr 11;46(2):139-44. Epub 2015 Feb 11.

Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1055/s-0034-1544127DOI Listing
April 2015

Testing for hyperhomocysteinemia in subjects with a history of thromboembolic events using HPLC technique.

Authors:
Jonas Denecke

Methods Mol Biol 2013 ;992:383-6

Department of Paediatrics, University Hospital Hamburg-Eppendorf, Hamburg-Eppendorf, Germany.

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http://link.springer.com/10.1007/978-1-62703-339-8_31
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http://dx.doi.org/10.1007/978-1-62703-339-8_31DOI Listing
September 2013

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.

Nephrol Dial Transplant 2011 Jan 5;26(1):136-43. Epub 2010 Jul 5.

Division of Pediatric Nephrology, University Children’s Hospital, University of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1093/ndt/gfq400DOI Listing
January 2011

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.

Mol Genet Metab 2009 Nov 24;98(3):305-9. Epub 2009 Jun 24.

Klinik für Kinder- und Jugendmedizin, Münster, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2009.06.010DOI Listing
November 2009

Biomarkers and diagnosis of congenital disorders of glycosylation.

Authors:
Jonas Denecke

Expert Opin Med Diagn 2009 Jul;3(4):395-409

Department of Pediatrics, Rembrandtstraße 16/17, 18057 Rostock, Germany +00 49 381 4947060 ; +00 49 381 4947051 ;

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http://dx.doi.org/10.1517/17530050902878023DOI Listing
July 2009

Hypoglycosylation due to dolichol metabolism defects.

Biochim Biophys Acta 2009 Sep 3;1792(9):888-95. Epub 2009 Feb 3.

Department of Pediatrics, University Hospital of Rostock, Rembrandtstrabetae 16/17, 18057 Rostock, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S092544390900028
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http://dx.doi.org/10.1016/j.bbadis.2009.01.013DOI Listing
September 2009

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?

Biochim Biophys Acta 2009 Sep 25;1792(9):915-20. Epub 2008 Dec 25.

University Hospital of Rostock, Department of Pediatrics, Rembrandtstrabetae 16/17, 18057 Rostock, Germany.

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http://dx.doi.org/10.1016/j.bbadis.2008.12.005DOI Listing
September 2009

Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter.

Blood 2006 May 2;107(10):3959-66. Epub 2006 Feb 2.

Max Planck Institute of Molecular Biomedicine and Institute of Cell Biology, ZMBE, University of Münster, Von-Esmarch-Strasse 56, 48149 Münster, Germany.

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http://dx.doi.org/10.1182/blood-2005-08-3334DOI Listing
May 2006

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.

Ann Neurol 2005 Jan;57(1):148-51

Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany.

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http://dx.doi.org/10.1002/ana.20359DOI Listing
January 2005

Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.

Blood 2003 Dec 21;102(13):4576-81. Epub 2003 Aug 21.

Abteilung Innere Medizin III (Hematology/Oncology) der Universität Ulm, Robert Koch Str 8, D-89081 Ulm, Germany.

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http://dx.doi.org/10.1182/blood-2003-02-0613DOI Listing
December 2003