Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Laverty CG"'
Autor:
Fischer R, Furlong P, Kennedy A, Maynard K, Penrod M, Miller D, Laverty CG, Lowes LP, Kuntz NL, Shieh PB, Kondejewski J, Neumann PJ, Shafrin J, Willke RJ
Publikováno v:
Journal of Multidisciplinary Healthcare, Vol Volume 17, Pp 4199-4212 (2024)
Ryan Fischer,1 Pat Furlong,1 Annie Kennedy,2 Kelly Maynard,3,4 Marissa Penrod,4,5 Debra Miller,6 Chamindra G Laverty,7 Linda P Lowes,8,9 Nancy L Kuntz,10,11 Perry B Shieh,12 Jane Kondejewski,13 Peter J Neumann,14 Jason Shafrin,15 Richard J Willke16 1
Externí odkaz:
https://doaj.org/article/e020e2a2bec64d5883f76a17bc62a743
Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions.
Autor:
Monnens Y; Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium., Theodoropoulou A; Laboratory for Biomolecular Modeling, Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Rosier K; Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium., Bhalla K; Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium., Mahy A; Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium., Vanhoutte R; Laboratory for Chemical Biology, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Meulemans S; Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium., Cavani E; Laboratory for Biomolecular Modeling, Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Antanasijevic A; Global Health Institute, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Lemmens I; VIB-UGent Center for Medical Biotechnology, Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Lee JA; Greenwood Genetic Center, South Carolina, USA., Spellicy CJ; Greenwood Genetic Center, South Carolina, USA., Schroer RJ; Greenwood Genetic Center, South Carolina, USA., Maselli RA; Department of Neurology, UCD, Sacramento, California, USA., Laverty CG; Department of Neuroscience, UCSD, San Diego, California, USA., Agostinis P; Laboratory for Cell death Research & Therapy, VIB, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Pagliarini DJ; Department of Biochemistry, University of Wisconsin-Madison, Madison, Wisconsin, USA., Verhelst S; Laboratory for Chemical Biology, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Marcaida MJ; Laboratory for Biomolecular Modeling, Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Rochtus A; UZ Leuven University Hospital, Leuven, Belgium., Dal Peraro M; Laboratory for Biomolecular Modeling, Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Creemers JW; Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Publikováno v:
JCI insight [JCI Insight] 2024 Sep 10; Vol. 9 (17). Date of Electronic Publication: 2024 Sep 10.
Autor:
Geist Hauserman J; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. Electronic address: janelle.hauserman@nih.gov., Laverty CG; University of California, San Diego, San Diego, CA, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Silverstein S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Vaughn G; University of California, San Diego, San Diego, CA, USA., Malicki D; University of California, San Diego, San Diego, CA, USA., Kaur R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Li Y; DNA Sequencing and Genomics Core, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA., Luo Y; DNA Sequencing and Genomics Core, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA., Liu P; DNA Sequencing and Genomics Core, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA., Burr P; DNA Sequencing and Genomics Core, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. Electronic address: carsten.bonnemann@nih.gov.
Publikováno v:
HGG advances [HGG Adv] 2024 Apr 11; Vol. 5 (2), pp. 100274. Date of Electronic Publication: 2024 Feb 02.
Autor:
Mercuri E; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Universita Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo Fondazione Policlinico Gemelli IRCCS, Rome, Italy. Electronic address: eugeniomaria.mercuri@policlinicogemelli.it., Vilchez JJ; Servicio de Neurología, Neuromuscular Unit, CIBERER, EURO-RN-NMD, Hospital Universitario y Politécnico La Fe Valencia, Valencia, Spain., Boespflug-Tanguy O; I-Motion, Institut de Myologie, Hôpital Armand-Trousseau, APHP, Sorbonne Université, Paris, France; Université Paris Cité UMR INSERM 1141, Hôpital Robert Debré, Paris, France., Zaidman CM; Washington University School of Medicine, St Louis, MO, USA., Mah JK; Division of Pediatric Neurology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium., Müller-Felber W; LMU Munich, University Hospital, Hauner Children's Hospital, Pediatric Neurology and Developmental Medicine, Munich, Germany., Niks EH; Department of Neurology, Leiden University Medical Center, Leiden, Netherlands; Duchenne Center Netherlands, Netherlands., Schara-Schmidt U; Department of Pediatric Neurology, Children's University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Bertini E; Research Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Comi GP; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Milan, Italy; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Mathews KD; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA., Servais L; MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, UK; NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium., Vandenborne K; ImagingDMD, University of Florida, Gainesville, FL, USA; Department of Physical Therapy, University of Florida, Gainesville, FL, USA., Johannsen J; University Medical Center Hamburg-Eppendorf, Department of Pediatrics, Hamburg, Germany., Messina S; Department of Clinical and Experimental Medicine, Unit of Neurodegenerative Diseases, AOU Policlinico G Martino, University of Mesina, Messina, Italy., Spinty S; Department of Paediatric Neurology, Alder Hey Children's Hospital NHS Trust, Liverpool, UK., McAdam L; Holland Bloorview Kids Rehabilitation Hospital, Bloorview Research Institute, Department of Pediatrics, University of Toronto, Toronto, ON, Canada., Selby K; The University of British Columbia, Children's and Women's Health Centre, Vancouver, BC, Canada., Byrne B; Child Health Research Institute, Department of Pediatrics, University of Florida, Gainesville, FL, USA., Laverty CG; Department of Neuroscience, University of California, San Diego, San Diego, CA, USA., Carroll K; KJC Statistics, Cheshire, UK., Zardi G; Alira Health, Milan, Italy., Cazzaniga S; Italfarmaco, Milan, Italy., Coceani N; Italfarmaco, Milan, Italy., Bettica P; Italfarmaco, Milan, Italy., McDonald CM; University of California Davis Health, Sacramento, CA, USA.
Publikováno v:
The Lancet. Neurology [Lancet Neurol] 2024 Apr; Vol. 23 (4), pp. 393-403.
Autor:
Orr JE; Division of Pulmonary, Critical Care, and Sleep Medicine, UC San Diego, San Diego, CA, USA., Chen K; Division of Pulmonary, Critical Care, and Sleep Medicine, UC San Diego, San Diego, CA, USA., Vaida F; School of Public Health, UC San Diego, San Diego, CA, USA., Schmickl CN; Division of Pulmonary, Critical Care, and Sleep Medicine, UC San Diego, San Diego, CA, USA., Laverty CG; Department of Neurology, UC San Diego, San Diego, CA, USA., Ravits J; Department of Neurology, UC San Diego, San Diego, CA, USA., Lesser D; Department of Pediatrics, UC San Diego, San Diego, CA, USA., Bhattacharjee R; Department of Pediatrics, UC San Diego, San Diego, CA, USA., Malhotra A; Division of Pulmonary, Critical Care, and Sleep Medicine, UC San Diego, San Diego, CA, USA., Owens RL; Division of Pulmonary, Critical Care, and Sleep Medicine, UC San Diego, San Diego, CA, USA.
Publikováno v:
ERJ open research [ERJ Open Res] 2023 Sep 25; Vol. 9 (5). Date of Electronic Publication: 2023 Sep 25 (Print Publication: 2023).