Publications by authors named "Andrea Dieckmann"

7Publications

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

The Clinical and Molecular Spectrum of GM1 Gangliosidosis.

J Pediatr 2019 12;215:152-157.e3

Villa Metabolica, Department of Pediatric and University Medical Center Mainz, Germany.

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http://dx.doi.org/10.1016/j.jpeds.2019.08.016DOI Listing
December 2019

Strain Ultrasound Elastography of Muscles in Healthy Children and Healthy Adults.

Rofo 2019 Dec 29;191(12):1091-1098. Epub 2019 Apr 29.

Section of Pediatric Radiology, Institute of Diagnostic and Interventional Radiology, University-Hospital Jena, Germany.

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http://dx.doi.org/10.1055/a-0889-8605DOI Listing
December 2019

Brain morphometry in Pontocerebellar Hypoplasia type 2.

Orphanet J Rare Dis 2016 07 19;11(1):100. Epub 2016 Jul 19.

Department of Child Neurology, Children's Hospital, University of Tübingen, Hoppe-Seyler-Str. 1, 72072, Tübingen, Germany.

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http://dx.doi.org/10.1186/s13023-016-0481-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4950429PMC
July 2016

Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography.

Pediatr Radiol 2005 Jan 6;35(1):85-90. Epub 2004 Oct 6.

Institute of Diagnostic and Interventional Radiology, Department of Pediatric Radiology, Friedrich-Schiller-University Jena, 07740 Jena, Germany.

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http://dx.doi.org/10.1007/s00247-004-1333-2DOI Listing
January 2005