Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Neuhofer, Christiane M"'
Autor:
Neuhofer, Christiane M.1,2,3 (AUTHOR), Prokisch, Holger1,2 (AUTHOR) holger.prokisch@helmholtz-munich.de
Publikováno v:
International Journal of Molecular Sciences. May2024, Vol. 25 Issue 9, p4602. 16p.
Akademický článek
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Autor:
Blickhäuser, Beryll, Stenton, Sarah L, Neuhofer, Christiane M, Floride, Elisa, Nesbitt, Victoria, Fratter, Carl, Koch, Johannes, Kauffmann, Birgit, Catarino, Claudia, Schlieben, Lea Dewi, Kopajtich, Robert, Carelli, Valerio, Sadun, Alfredo A, McFarland, Robert, Fang, Fang, Morgia, Chiara La, Paquay, Stéphanie, Nassogne, Marie Cécile, Ghezzi, Daniele, Lamperti, Costanza
Publikováno v:
Brain: A Journal of Neurology; Jun2024, Vol. 147 Issue 6, p1967-1974, 8p
Autor:
Neuhofer, Christiane M., Catarino, Claudia B., Schmidt, Heinrich, Seelos, Klaus, Alhaddad, Bader, Haack, Tobias B., Klopstock, Thomas
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Objective Clinical, neuroimaging, and genetic characterization of 3 patients with LINS1-associated developmental regression, intellectual disability, dysmorphism, and further neurologic deficits. Methods Three affected brothers from a consanguineous
Akademický článek
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Autor:
Neuhofer, Christiane M., Funke, Rudolf, Wilken, Bernd, Knaus, alexej, altmüller, Janine, Nürnberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter, Pauli, Silke
Publikováno v:
Molecular Syndromology; 2020, Vol. 11 Issue 1, p30-37, 8p
Autor:
Neuhofer, Christiane M., Funke, Rudolf, Wilken, Bernd, Knaus, Alexej, Altmüller, Janine, Nürnberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter, Pauli, Silke
Publikováno v:
Molecular Syndromology; February 2020, Vol. 11 Issue: 1 p30-37, 8p
The dynamic exchange of subunits in Complex I is essential for its function in differentiated cells.
Autor:
Wittig, Ilka1 (AUTHOR) wittig@med.uni-frankfurt.de, Tamez, Paulina Castaneda1 (AUTHOR), Cabrera-Orefice, Alfredo1 (AUTHOR), Heidler, Juliana1 (AUTHOR), Giese, Heiko2 (AUTHOR), Neuhofer, Christiane M.3 (AUTHOR), Prokisch, Holger4,5 (AUTHOR), Brandes, Ralf P.1 (AUTHOR)
Publikováno v:
BBA - Bioenergetics. 2024 Supplement, Vol. 1865, pN.PAG-N.PAG. 1p.
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.
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).