Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Fortuna TR"'
Autor:
Cascajo-Almenara MV; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain., Juliá-Palacios N; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Urreizti R; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Sánchez-Cuesta A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain., Fernández-Ayala DM; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain., García-Díaz E; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain., Oliva C; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., O Callaghan MDM; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Paredes-Fuentes AJ; Division of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, 08028, Barcelona, Spain., Moreno-Lozano PJ; Internal Medicine Department, Clinic Hospital and University of Barcelona, 08036, Barcelona, Spain., Muchart J; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Nascimento A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Ortez CI; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Natera-de Benito D; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Pineda M; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Rivera N; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Fortuna TR; Department of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA., Rajan DS; Department of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA., Navas P; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain., Salviati L; Clinical Genetics Unit, Department of Women and Children's Health, Padua University, 35128, Padua, Italy., Palau F; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Division of Pediatrics, Faculty of Medicine and Health Sciences, University of Barcelona, 08036, Barcelona, Spain., Yubero D; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., García-Cazorla A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Pandey UB; Department of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA. udai@pitt.edu., Santos-Ocaña C; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. csanoca@upo.es.; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain. csanoca@upo.es., Artuch R; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. Rafael.artuch@sjd.es.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain. Rafael.artuch@sjd.es.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Apr; Vol. 32 (4), pp. 426-434. Date of Electronic Publication: 2024 Feb 05.
Autor:
Ortega JA; The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Pathology and Experimental Therapy, Institute of Neurosciences, University of Barcelona, Barcelona 08907, Spain., Sasselli IR; Department of Chemistry, Northwestern University, Evanston, IL 60208, USA.; Simpson Querrey Institute for BioNanotechnology, Northwestern University, Chicago, IL 60611, USA.; Center for Cooperative Research in Biomaterials (CIC biomaGUNE), Basque Research and Technology Alliance (BRTA), Donostia-San Sebastián 20014, Spain.; Centro de Fisica de Materiales (CFM), CSIC-UPV/EHU, 20018 San Sebastián, Spain., Boccitto M; RNA Biology Laboratory, Center for Cancer Research, National Cancer Institute, Frederick, MD 21702, USA., Fleming AC; The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Fortuna TR; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA., Li Y; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA., Sato K; Department of Chemistry, Northwestern University, Evanston, IL 60208, USA.; Simpson Querrey Institute for BioNanotechnology, Northwestern University, Chicago, IL 60611, USA., Clemons TD; Department of Chemistry, Northwestern University, Evanston, IL 60208, USA.; Simpson Querrey Institute for BioNanotechnology, Northwestern University, Chicago, IL 60611, USA., Mckenna ED; The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Nguyen TP; The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Anderson EN; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA., Asin J; Department of Statistical Methods, School of Engineering, University of Zaragoza, Zaragoza 50018, Spain., Ichida JK; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA., Pandey UB; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA., Wolin SL; RNA Biology Laboratory, Center for Cancer Research, National Cancer Institute, Frederick, MD 21702, USA., Stupp SI; Department of Chemistry, Northwestern University, Evanston, IL 60208, USA.; Simpson Querrey Institute for BioNanotechnology, Northwestern University, Chicago, IL 60611, USA.; Department of Biomedical Engineering, Northwestern University, Evanston, IL 60208, USA.; Department of Materials Science and Engineering, Northwestern University, Evanston, IL 60208, USA.; Department of Medicine, Northwestern University, Chicago, IL 60611, USA., Kiskinis E; The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Simpson Querrey Institute for BioNanotechnology, Northwestern University, Chicago, IL 60611, USA.; Department of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Publikováno v:
Science advances [Sci Adv] 2023 Nov 10; Vol. 9 (45), pp. eadf7997. Date of Electronic Publication: 2023 Nov 10.
Autor:
Fortuna TR; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Kour S; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Chimata AV; Department of Biology, University of Dayton, Dayton, OH, USA., Muiños-Bühl A; Institute of Human Genetics, Center for Molecular Medicine, Center for Rare Disorders, University of Cologne, Cologne, Germany., Anderson EN; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Nelson Iv CH; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Ward C; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Chauhan O; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., O'Brien C; Department of Pediatrics, Division of Health Informatics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Rajasundaram D; Department of Pediatrics, Division of Health Informatics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Rajan DS; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Wirth B; Institute of Human Genetics, Center for Molecular Medicine, Center for Rare Disorders, University of Cologne, Cologne, Germany., Singh A; Department of Biology, University of Dayton, Dayton, OH, USA., Pandey UB; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. udai@pitt.edu.; Children's Neuroscience Institute, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA. udai@pitt.edu.
Publikováno v:
Acta neuropathologica [Acta Neuropathol] 2023 Sep; Vol. 146 (3), pp. 477-498. Date of Electronic Publication: 2023 Jun 27.
Autor:
Ferrari V; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centre of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Milan., Cristofani R; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centre of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Milan., Cicardi ME; Department of Neuroscience, Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience, Thomas Jefferson University, Philadelphia, PA, USA., Tedesco B; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centre of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Milan.; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS - Istituto Neurologico Carlo Besta, Milan, Italy., Crippa V; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centre of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Milan., Chierichetti M; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centre of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Milan., Casarotto E; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centre of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Milan., Cozzi M; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centre of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Milan., Mina F; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centre of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Milan., Galbiati M; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centre of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Milan., Piccolella M; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centre of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Milan., Carra S; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy., Vaccari T; Dipartimento di Bioscienze, Università degli Studi di Milano, Milan, Italy., Nalbandian A; Department of Pediatrics, University of California, Irvine, CA, USA., Kimonis V; Department of Pediatrics, University of California, Irvine, CA, USA., Fortuna TR; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Pandey UB; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Gagliani MC; Department of Experimental Medicine (DIMES), Cellular Electron Microscopy Lab, University of Genoa, Genova., Cortese K; Department of Experimental Medicine (DIMES), Cellular Electron Microscopy Lab, University of Genoa, Genova., Rusmini P; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centre of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Milan., Poletti A; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centre of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Milan.
Publikováno v:
Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2022 Aug; Vol. 48 (5), pp. e12818. Date of Electronic Publication: 2022 May 15.
Autor:
Rajan DS; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, United States., Kour S; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, United States., Fortuna TR; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, United States., Cousin MA; Department of Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, United States., Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Niu Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, United States., Babovic-Vuksanovic D; Department of Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, United States., Klee EW; Department of Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, United States.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, United States., Kirmse B; Division of Genetics, University of Mississippi Medical Center, Jackson, MS, United States., Innes M; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Rydning SL; Department of Neurology, Oslo University Hospital, Oslo, Norway., Selmer KK; Department of Research and Innovation, Division of Clinical Neuroscience, Oslo University Hospital and the University of Oslo, Oslo, Norway., Vigeland MD; Department of Medical Genetics, Oslo University Hospital, and Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Erichsen AK; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway., Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Millan F; GeneDx, Gaithersburg, MD, United States., DeVile C; Great Ormond Street Hospital, London, United Kingdom., Fawcett K; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; Department of Health Sciences, University of Leicester, Leicester, United Kingdom., Legendre A; Laboratoire de biologie médicale multisites Seqoia-FMG2025, Paris, France., Sims D; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom., Schnekenberg RP; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet et Laboratoire de Neurogénétique Moléculaire, Département de Génétique, AP-HP. Sorbonne Université, Hôpital Trousseau, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris, France., Mercier S; CHU Nantes, Service de génétique médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Nantes, France.; Nantes Université, CNRS, INSERM, l’institut du thorax, Nantes, France., Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, United States.; Departments of Child Health, Neurology, Cellular and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine—Phoenix, Phoenix, AZ, United States., Francisco-Velilla R; Centro de Biologia Molecular Severo Ochoa, CSIC-UAM, Madrid, Spain., Embarc-Buh A; Centro de Biologia Molecular Severo Ochoa, CSIC-UAM, Madrid, Spain., Martinez-Salas E; Centro de Biologia Molecular Severo Ochoa, CSIC-UAM, Madrid, Spain., Wigby K; Department of Pediatrics, University of California San Diego, San Diego, CA, United States.; Rady Children’s Institute for Genomic Medicine, San Diego, CA, United States., Lenberg J; Rady Children’s Institute for Genomic Medicine, San Diego, CA, United States., Friedman JR; Department of Neurosciences, University of California San Diego, San Diego, CA, United States.; Department of Pediatrics, University of California San Diego, San Diego, CA, United States.; Rady Children’s Institute for Genomic Medicine, San Diego, CA, United States., Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, United States.; Departments of Child Health, Neurology, Cellular and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine—Phoenix, Phoenix, AZ, United States., Pandey UB; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, United States.
Publikováno v:
Frontiers in cell and developmental biology [Front Cell Dev Biol] 2022 Feb 28; Vol. 10, pp. 783762. Date of Electronic Publication: 2022 Feb 28 (Print Publication: 2022).
Autor:
Fortuna TR; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Kour S; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Anderson EN; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Ward C; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Rajasundaram D; Division of Health Informatics, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Donnelly CJ; LiveLikeLou Center for ALS Research, Brain Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Neurobiology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Hermann A; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center, University of Rostock, 18147, Rostock, Germany.; German Center for Neurodegenerative Diseases (DZNE), Rostock/Greifswald, 18147, Rostock, Germany.; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center, University of Rostock, 18147, Rostock, Germany., Wyne H; Department of Biochemistry, Uniformed Services University, Bethesda, MD, USA., Shewmaker F; Department of Biochemistry, Uniformed Services University, Bethesda, MD, USA., Pandey UB; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. udai@pitt.edu.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. udai@pitt.edu.
Publikováno v:
Acta neuropathologica [Acta Neuropathol] 2021 Sep; Vol. 142 (3), pp. 515-536. Date of Electronic Publication: 2021 Jun 01.
Autor:
Kour S; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Rajan DS; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Fortuna TR; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Anderson EN; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Ward C; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Shin YB; Department of Rehabilitative Medicine, Pusan National University School of Medicine, Pusan, Republic of Korea., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Siquier K; Developmental Brain Disorders Laboratory, Paris University, Imagine Institute, INSERM UMR, Paris, France., Cantagrel V; Developmental Brain Disorders Laboratory, Paris University, Imagine Institute, INSERM UMR, Paris, France., Amiel J; Department of Genetics, AP-HP, Necker Enfants Malades Hospital, Paris University, Imagine Institute, Paris, France., Stolerman ES; Greenwood Genetic Center, Greenwood, SC, USA., Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Castro D; Department of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA., McDonald K; University of Mississippi Medical Center, Jackson, MS, USA., Kirmse B; Division of Genetics, University of Mississippi Medical Center, Jackson, MS, USA., Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, Oxford, UK., Rajasundaram D; Department of Pediatrics, Division of Health Informatics, Childrens Hospital of Pittsburgh, Pittsburgh, PA, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Lynch D; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Frosk P; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada., Collins A; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Gibbons M; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Yang M; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Desguerre I; Department of Pediatric Neurology, AP-HP, Necker Enfants Malades Hospital, Paris University Imagine Institute, Paris, France., Boddaert N; Department of Pediatric Radiology, AP-HP, Necker Enfants Malades Hospital, Paris University Imagine Institute, Paris, France., Gitiaux C; Department of Pediatric Neurophysiology AP-HP, Necker Enfants Malades Hospital, Paris University, Paris, France., Rydning SL; Department of Neurology, Oslo University Hospital, Oslo, Norway., Selmer KK; Department of Research and Development, Division of Neuroscience, Oslo University Hospital and the University of Oslo, Oslo, Norway., Urreizti R; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu and CIBERER, Barcelona, Spain., Garcia-Oguiza A; Hospital Universitario Miguel Servet, Zaragoza, Spain., Osorio AN; Hospital Sant Joan de Déu, Barcelona, Spain., Verdura E; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Pujol A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain., McCurry HR; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Agnihotri S; Department of Neurological Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Andriescu EC; Department of Pediatrics, University of Texas Health Science Center, Houston, TX, USA., Moody SB; Department of Pediatrics, University of Texas Health Science Center, Houston, TX, USA., Phornphutkul C; Department of Pediatrics, Division of Human Genetics, Rhode Island Hospital and Warren Alpert Medical School of Brown University, Providence, RI, USA., Sacoto MJG; GeneDx, Gaithersburg, MD, USA., Begtrup A; GeneDx, Gaithersburg, MD, USA., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center,, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Schorling D; Department of Neuropediatrics and Muscle Disorders, Medical Center,, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Rudnik-Schöneborn S; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Strom TM; Institute of Human Genetics, Faculty of Medicine, Technical University Munich, Munich, Germany., Leiz S; Clinic for Children and Adolescents Dritter Orden, Divison of Neuropediatrics, Munchen, Germany., Juliette K; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN, USA., Richardson R; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN, USA., Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China., Zhang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China., Wang M; The First People's Hospital of Changde City, Hunan, China., Wang J; Cipher Gene Ltd, Beijing, China., Wang X; Cipher Gene Ltd, Beijing, China., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Wagner M; Institute of Human Genetics, Klinikum rechts der IsarTechnical, University of Munich, Munich, Germany., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Stanley V; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Gleeson JG; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Senderek J; Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Munich, Germany., Pandey UB; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. udai@pitt.edu.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. udai@pitt.edu.; Children's Neuroscience Institute, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. udai@pitt.edu.
Publikováno v:
Nature communications [Nat Commun] 2021 May 07; Vol. 12 (1), pp. 2558. Date of Electronic Publication: 2021 May 07.
Autor:
Otte CG; Physician Scientist Training Program, University of Pittsburgh School of Medicine, United States of America; Department of Neurobiology, University of Pittsburgh School of Medicine, United States of America; LiveLikeLou Center for ALS Research, University of Pittsburgh Brain Institute, United States of America., Fortuna TR; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, United States of America., Mann JR; Center for Neuroscience, University of Pittsburgh, United States of America; Department of Neurobiology, University of Pittsburgh School of Medicine, United States of America; Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh, United States of America; Center for Protein Conformational Diseases, University of Pittsburgh, United States of America; LiveLikeLou Center for ALS Research, University of Pittsburgh Brain Institute, United States of America., Gleixner AM; Department of Neurobiology, University of Pittsburgh School of Medicine, United States of America; Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh, United States of America; Center for Protein Conformational Diseases, University of Pittsburgh, United States of America; LiveLikeLou Center for ALS Research, University of Pittsburgh Brain Institute, United States of America., Ramesh N; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, United States of America., Pyles NJ; Physician Scientist Training Program, University of Pittsburgh School of Medicine, United States of America; Department of Neurobiology, University of Pittsburgh School of Medicine, United States of America; LiveLikeLou Center for ALS Research, University of Pittsburgh Brain Institute, United States of America., Pandey UB; Center for Neuroscience, University of Pittsburgh, United States of America; Center for Protein Conformational Diseases, University of Pittsburgh, United States of America; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, United States of America., Donnelly CJ; Physician Scientist Training Program, University of Pittsburgh School of Medicine, United States of America; Center for Neuroscience, University of Pittsburgh, United States of America; Department of Neurobiology, University of Pittsburgh School of Medicine, United States of America; Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh, United States of America; Center for Protein Conformational Diseases, University of Pittsburgh, United States of America; LiveLikeLou Center for ALS Research, University of Pittsburgh Brain Institute, United States of America. Electronic address: cjdon25@pitt.edu.
Publikováno v:
Neurobiology of disease [Neurobiol Dis] 2020 Dec; Vol. 146, pp. 105078. Date of Electronic Publication: 2020 Sep 12.