Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Acquaye N"'
Autor:
Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., van de Locht M; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands., Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy., Reunert J; Department of General Pediatrics, University of Münster, Münster, 48149, Germany., McLean CA; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, 3004, Australia.; Faculty of Medicine, Nursing, and Health Sciences, Monash University, Melbourne, Victoria, 3168, Australia., Zaki M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., de Winter JM; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands., Conijn S; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands., Hoomoedt D; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands., Neto OLA; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Magri F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, 20122, Italy., Viaene AN; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, 19104 PA, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Gorokhova S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, 13005, France.; INSERM, U1251-MMG, Aix-Marseille Université, Marseille, 13009, France., Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Acquaye N; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Napoli L; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy., Park JH; Department of General Pediatrics, University Hospital Münster, Münster, 48149 Germany., Immadisetty K; Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA., Miles LB; School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia., Essawi M; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., McModie S; Department of Neurology, Alfred Health, Melbourne, Victoria, 3004, Australia., Ferreira LF; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Department of Orthopaedic Surgery, Duke University School of Medicine, Durham, NC 27710, USA., Zanotti S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy., Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., ElBagoury N; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., Johnson KR; Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Zhang Y; Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Laing NG; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia., Davis MR; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia., Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia., Hwee DT; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA., Hartman JJ; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA., Malik FI; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA., Kekenes-Huskey PM; Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA., Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy., Sharaf-Eldin W; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., Marquardt T; Department of General Pediatrics, University of Münster, Münster, 48149, Germany., Ravenscroft G; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Ottenheijm CAC; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.
Publikováno v:
Science translational medicine [Sci Transl Med] 2024 Apr 03; Vol. 16 (741), pp. eadg2841. Date of Electronic Publication: 2024 Apr 03.
Autor:
Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Bonner DE; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Department of Pediatrics, Medical Genetics, Stanford University School of Medicine, Stanford, California, USA., Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Acquaye N; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Brull A; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Mozaffar T; Department of Neurology, University of California, Irvine, California, USA.; Department of Pathology & Laboratory Medicine, University of California, Irvine, California, USA., Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Sampson JB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Department of Neurology, Stanford University School of Medicine, Stanford, California, USA., Pajusalu S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Hurth K; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Cohen JS; Department of Neurology and Developmental Medicine, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., McWalter K; GeneDx, Gaithersburg, Maryland, USA., Warman-Chardon J; Department of Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada., Crunk A; GeneDx, Gaithersburg, Maryland, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Mammen AL; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Mar; Vol. 11 (3), pp. 629-640. Date of Electronic Publication: 2024 Feb 04.
Autor:
Bharucha-Goebel, D., Saade, D., Todd, J., Lehky, T., Norato, G., Armao, D., Bouldin, T., Averion, G., Hu, Y., Mohassel, P., Donkervoort, S., Corse, A., Foley, A., DeLong, T., Acquaye, N., Hinkley, L., Mendoza, C., Hoke, A., Gray, S., Bönnemann, C.
Publikováno v:
In Neuromuscular Disorders October 2023 33 Supplement 1:S189-S190
Autor:
Bharucha-Goebel, D., Saade, D., Todd, J., Huryn, L., Norato, G., DeLong, T., Averion, G., Donkervoort, S., Foley, A., Acquaye, N., Mendoza, C., Gray, S., Zein, W., Bonnemann, C.
Publikováno v:
In Neuromuscular Disorders October 2023 33 Supplement 1:S189-S189
Autor:
Doreswamy, K., Foley, R., Norato, G., Waite, M., Acquaye, N., Hinkley, L., Alfano, L., Lowes, L., Bonnemann, C., Jain, M.
Publikováno v:
In Neuromuscular Disorders October 2023 33 Supplement 1:S159-S159
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Autor:
Alfano, L., Jain, M., Foley, A., Reash, N., Iammarino, M., Lowes, L., Long, A., Kent, V., Hinckley, L., Acquaye, N., Bönnemann, C., Connolly, A.
Publikováno v:
In Neuromuscular Disorders October 2022 32 Supplement 1:S121-S121
Autor:
Orbach, R., Park, J., Hinkley, L., Acquaye, N., Alvarez, R., Dziewczapolski, G., Bönnemann, C., Foley, A.
Publikováno v:
In Neuromuscular Disorders October 2022 32 Supplement 1:S120-S120
Autor:
Bharucha-Goebel, D., Saade, D., Todd, J., Norato, G., Jain, M., Waite, M., Armao, D., Foley, A., Lehky, T., Averion, G., Hu, Y., Mohassel, P., Hoke, A., DeLong, T., Acquaye, N., Hinkley, L., Chichester, J., Mendoza, C., Soldatos, A., Gray, S., Bönnemann, C.
Publikováno v:
In Neuromuscular Disorders October 2022 32 Supplement 1:S94-S94
Autor:
Zygmunt, A., Deng, S., Donkervoort, S., Mohassel, P., Bharucha-Goebel, D., Saade, D., Neuhaus, S., Dastgir, J., Acquaye, N., Hinkley, L., Lehky, T., Foley, A., Bönnemann, C.
Publikováno v:
In Neuromuscular Disorders October 2022 32 Supplement 1:S57-S57