Zobrazeno 1 - 10
of 252
pro vyhledávání: '"Moorwood C"'
Publikováno v:
Hormone research in paediatrics [Horm Res Paediatr] 2024 Jan 31. Date of Electronic Publication: 2024 Jan 31.
Autor:
Poggio E; Department of Biology, University of Padua, Padua, Italy., Barazzuol L; Department of Biomedical Sciences, University of Padua, Padua, Italy., Salmaso A; Department of Biology, University of Padua, Padua, Italy., Milani C; Department of Biology, University of Padua, Padua, Italy., Deligiannopoulou A; Department of Biomedical Sciences, University of Padua, Padua, Italy., Cazorla ÁG; European Reference Network for Hereditary Metabolic Diseases (MetabERN), Madrid, Spain; Neurometabolic Unit and Synaptic Metabolism Laboratory, Neurology Department Sant Joan de Déu Hospital, IPR, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Jang SS; Seoul National University (SNU) College of Medicine, Seoul, South Korea., Juliá-Palacios N; Neurology Department, Neurometabolic Unit, Institut de Recerca, CIBERER and MetabERN, Hospital Sant Joan de Déu, Barcelona, Spain., Keren B; APHP.Sorbonne Université, Department of Medical Genetics, Pitié-Salpêtrière University Hospital, and Centre de Référence Maladies Rares Déficiences Intellectuelles de Causes Rares, Paris, France., Kopajtich R; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Lynch SA; Department of Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland., Mignot C; APHP.Sorbonne Université, Department of Medical Genetics, Pitié-Salpêtrière University Hospital, and Centre de Référence Maladies Rares Déficiences Intellectuelles de Causes Rares, Paris, France., Moorwood C; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Neuhofer C; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Nigro V; Department of Precision Medicine, University of Campania, Luigi Vanvitelli, Napoli, Italy., Oostra A; Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium., Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Saillour V; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France., Schuermans N; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium., Torella A; Department of Precision Medicine, University of Campania, Luigi Vanvitelli, Napoli, Italy., Verloo P; Department of Pediatric Neurology, Center for Inherited Metabolic Disorders and metabERN, University Hospital Ghent, Ghent, Belgium., Yazbeck E; Pediatric Neurology Department, Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires Paris Saclay, Bicêtre Hospital, Le Kremlin Bicêtre, France., Zollino M; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Jech R; Department of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Necpal J; 2nd Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia., Calì T; Department of Biomedical Sciences, University of Padua, Padua, Italy; Centro Studi per la Neurodegenerazione (CESNE), University of Padua, Padua, Italy; Neuroscience Center (PNC), University of Padua, Padua, Italy., Brini M; Department of Biology, University of Padua, Padua, Italy; Centro Studi per la Neurodegenerazione (CESNE), University of Padua, Padua, Italy., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Institute for Advanced Study, Technical University of Munich, Garching, Germany. Electronic address: michael.zech@mri.tum.de.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Dec; Vol. 25 (12), pp. 100971. Date of Electronic Publication: 2023 Sep 04.
Autor:
Dias KR; Neuroscience Research Australia, Sydney, New South Wales, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia., Carlston CM; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Blok LER; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., De Hayr L; School of Health and Behavioural Sciences, University of the Sunshine Coast, Maroochydore, Queensland, Australia; Sunshine Coast Health Institute, Birtinya, Queensland, Australia., Nawaz U; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Evans CA; Neuroscience Research Australia, Sydney, New South Wales, Australia; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia., Bayrak-Toydemir P; Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT; Molecular Genomics, ARUP Laboratories, University of Utah School of Medicine, University of Utah, Salt Lake City, UT., Htun S; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA., Zhu Y; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia., Ma A; Department of Clinical Genetics, Children's Hospital Westmead, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia; Specialty of Genomic Medicine, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia., Lynch SA; Department of Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland., Moorwood C; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Stals K; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Bainbridge MN; Rady Children's Institute of Genomic Medicine, Rady Children's Hospital, San Diego, CA., Friedman J; Rady Children's Institute of Genomic Medicine, Rady Children's Hospital, San Diego, CA; Departments of Neurosciences and Pediatrics, University of California San Diego, San Diego, CA., Pappas JG; Department of Pediatrics, Clinical Genetic Services, NYU Grossman School of Medicine, NYU Langone Health, New York, NY., Rabin R; Department of Pediatrics, Clinical Genetic Services, NYU Grossman School of Medicine, NYU Langone Health, New York, NY., Nowak CB; The Feingold Center for Children, Boston Children's Hospital, Harvard Medical School, Boston, MA., Douglas J; The Feingold Center for Children, Boston Children's Hospital, Harvard Medical School, Boston, MA., Wilson TE; Department of Medical & Molecular Genetics, Indiana University School of Medicine, Riley Hospital for Children at Indiana University Health, Indianapolis, IN., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD., Mullegama SV; GeneDx, Gaithersburg, MD., Palculict TB; GeneDx, Gaithersburg, MD., Kirk EP; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia., Pinner JR; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia., Edwards M; Hunter Genetics, Hunter New England Health, New Lambton, New South Wales, Australia; School of Medicine, Western Sydney University, Penrith, New South Wales, Australia., Montanari F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Graziano C; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Pippucci T; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Dingmann B; Medical Genetics Department, Seattle Children's Hospital, Seattle, WA., Glass I; Medical Genetics Department, Seattle Children's Hospital, Seattle, WA., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Research, St. Jude Children's Hospital, Memphis, TN., Shimoji T; Department of Neurosurgery, Okinawa Pref. Nanbu Medical Center and Children's Medical Center, Okinawa, Japan; Okinawa Central Hospital, Okinawa, Japan., Suzuki T; Department of Neurodevelopmental Disorder Genetics, Institute of Brain Sciences, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan., Yamakawa K; Department of Neurodevelopmental Disorder Genetics, Institute of Brain Sciences, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Institute of Human Genetics, Heidelberg University, Heidelberg University Hospital, Heidelberg, Germany., Slavotinek AM; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA., Voineagu I; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia., Carey JC; Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, UT., Buckley MF; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia., Schenck A; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Harvey RJ; School of Health and Behavioural Sciences, University of the Sunshine Coast, Maroochydore, Queensland, Australia; Sunshine Coast Health Institute, Birtinya, Queensland, Australia., Roscioli T; Neuroscience Research Australia, Sydney, New South Wales, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia; New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia. Electronic address: tony.roscioli@health.nsw.gov.au.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1952-1966. Date of Electronic Publication: 2022 Aug 01.
Background: The dystrophin glycoprotein complex (DGC) is located at the sarcolemma of muscle fibers, providing structural integrity. Mutations in and loss of DGC proteins cause a spectrum of muscular dystrophies. When only the sarcoglycan subcomplex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::c007657885d83bb56a7fa4973f77f5f6
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3088407
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3088407
Autor:
Sargent, Marisa1 (AUTHOR), Wark, Alastair W.2 (AUTHOR), Day, Sarah1 (AUTHOR), Buis, Arjan1 (AUTHOR) arjan.buis@strath.ac.uk
Publikováno v:
Communications Biology. 3/9/2024, Vol. 7 Issue 1, p1-10. 10p.
Akademický článek
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Autor:
Kim, Charles J.1,2 (AUTHOR), Singh, Chanpreet1 (AUTHOR), Kaczmarek, Marina1 (AUTHOR), O'Donnell, Madison1 (AUTHOR), Lee, Christine2 (AUTHOR), DiMagno, Kevin1 (AUTHOR), Young, Melody W.3 (AUTHOR), Letsou, William2 (AUTHOR), Ramos, Raddy L.4 (AUTHOR), Granatosky, Michael C.3,5 (AUTHOR), Hadjiargyrou, Michael1,2 (AUTHOR) mhadji@nyit.edu
Publikováno v:
FASEB Bioadvances. Dec2023, Vol. 5 Issue 12, p541-557. 17p.
Publikováno v:
Frontiers in Pharmacology; 2024, p1-18, 18p
Autor:
Moorwood C; Department of Anatomy and Cell Biology, University of Pennsylvania School of Dental Medicine, Philadelphia, PA, USA and Pennsylvania Muscle Institute, University of Pennsylvania, Philadelphia, PA, USA., Barton ER; Department of Anatomy and Cell Biology, University of Pennsylvania School of Dental Medicine, Philadelphia, PA, USA and Pennsylvania Muscle Institute, University of Pennsylvania, Philadelphia, PA, USA erbarton@dental.upenn.edu.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2014 Oct 15; Vol. 23 (20), pp. 5325-41. Date of Electronic Publication: 2014 May 30.
Autor:
Moorwood C; Department of Anatomy and Cell Biology, School of Dental Medicine, University of Pennsylvania, Philadelphia, PA, USA ; Pennsylvania Muscle Institute, University of Pennsylvania, Philadelphia, PA, USA., Philippou A; Department of Anatomy and Cell Biology, School of Dental Medicine, University of Pennsylvania, Philadelphia, PA, USA ; Pennsylvania Muscle Institute, University of Pennsylvania, Philadelphia, PA, USA ; Current address: Department of Physiology, Medical School, National and Kapodistrian University of Athens, Goudi, Athens, Greece., Spinazzola J; Department of Anatomy and Cell Biology, School of Dental Medicine, University of Pennsylvania, Philadelphia, PA, USA ; Pennsylvania Muscle Institute, University of Pennsylvania, Philadelphia, PA, USA., Keyser B; Department of Anatomy and Cell Biology, School of Dental Medicine, University of Pennsylvania, Philadelphia, PA, USA., Macarak EJ; Department of Anatomy and Cell Biology, School of Dental Medicine, University of Pennsylvania, Philadelphia, PA, USA ; Current address: Department of Dermatology and Cutaneous Biology, Jefferson University College of Medicine, Philadelphia, PA, USA., Barton ER; Department of Anatomy and Cell Biology, School of Dental Medicine, University of Pennsylvania, Philadelphia, PA, USA ; Pennsylvania Muscle Institute, University of Pennsylvania, Philadelphia, PA, USA.
Publikováno v:
Skeletal muscle [Skelet Muscle] 2014 Jul 01; Vol. 4, pp. 13. Date of Electronic Publication: 2014 Jul 01 (Print Publication: 2014).