Výsledky vyhledávání - "Neuhofer, Christiane M."

Akademický článek

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Autor: Blickhäuser B; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany., Stenton SL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Neuhofer CM; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Floride E; Institute for Human Genetics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Nesbitt V; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK., Fratter C; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK., Koch J; University Children's Hospital, Department of Neuropediatrics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, 6525 Nijmegen, The Netherlands., Kauffmann B; Klinikum Bremen Mitte, Department of Pediatrics, Neuropediatrics, 28205 Bremen, Germany., Catarino C; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany., Schlieben LD; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Kopajtich R; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy., Sadun AA; Doheny Eye Institute, Pasadena, CA 91105, USA.; Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA 10833, USA., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE2 4HH, UK., Fang F; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy., Paquay S; Department of Neuropediatrics, University Hospital St Luc, UCLouvain, 1200 Bruxelles, Belgium., Nassogne MC; Department of Neuropediatrics, University Hospital St Luc, UCLouvain, 1200 Bruxelles, Belgium., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Wortmann S; University Children's Hospital, Department of Neuropediatrics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, 6525 Nijmegen, The Netherlands., Poulton J; Nuffield Department of Women's and Reproductive Health University of Oxford, The Women's Centre, Oxford, OX3 9DU, UK., Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany., Prokisch H; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Jun 03; Vol. 147 (6), pp. 1967-1974.

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Akademický článek

Somatic mosaicism in STAG2 -associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.

Autor: Schmidt J; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Dreha-Kulaczewski S; Department of Pediatics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany., Zafeiriou MP; Institute of Pharmacology and Toxicology, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany., Schreiber MK; Institute of Pharmacology and Toxicology, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany., Wilken B; Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany., Funke R; Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany., Neuhofer CM; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Munich, Germany.; Department of Neurology, Friedrich-Baur-Institute, LMU Hospital, Ludwig Maximilians University, Munich, Germany., Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany.; Berlin Institute of Health at Charité, Core Facility Genomics, Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany., Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany., Biskup S; CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany., Li Y; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Zimmermann WH; Institute of Pharmacology and Toxicology, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany., Kaulfuß S; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Göttingen, Göttingen, Germany., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.

Publikováno v: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2022 Nov 16; Vol. 10, pp. 1025332. Date of Electronic Publication: 2022 Nov 16 (Print Publication: 2022).

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