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    Wyświetlanie 1-4 z 4
    Tytuł:
    Scientific rationale for a higher dose of nusinersen.
    Autorzy:
    Finkel RS; St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
    Ryan MM; Royal Children's Hospital, Parkville, Victoria, Australia.
    Pascual Pascual SI; Pediátrica Hospital, Universitario La Paz, Madrid, Spain.
    Day JW; Stanford University School of Medicine, Stanford, California, USA.
    Mercuri E; Universitá Cattolica del Sacro Cuore, Rome, Italy.
    De Vivo DC; Columbia University Irving Medical Center, New York, New York, USA.
    Foster R; Biogen, Maidenhead, Berkshire, UK.
    Montes J; Columbia University Irving Medical Center, New York, New York, USA.
    Gurgel-Giannetti J; Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
    MacCannell D; Biogen, Cambridge, Massachusetts, USA.
    Berger Z; Biogen, Cambridge, Massachusetts, USA.
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    Źródło:
    Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2022 Jun; Vol. 9 (6), pp. 819-829. Date of Electronic Publication: 2022 May 13.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Spinal Muscular Atrophies of Childhood*/drug therapy
    Biomarkers ; Child ; Humans ; Infant ; Oligonucleotides/pharmacokinetics ; Treatment Outcome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Nusinersen in pediatric and adult patients with type III spinal muscular atrophy.
    Autorzy:
    Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    Bovis F; Biostatistics Unit, Department of Health Sciences, University of Genoa, Genoa, Italy.
    Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Montes J; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Irving Medical Center, New York, New York, USA.
    Sansone VA; Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, Italy.
    Dunaway Young S; Department of Neurology, Stanford University, Palo Alto, California, USA.
    Duong T; Department of Neurology, Stanford University, Palo Alto, California, USA.
    Messina S; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
    Mizzoni I; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
    D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
    Civitello M; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.; St. Jude Children's Research Hospital, Memphis, USA.
    Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
    Bruno C; Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
    Salmin F; Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, Italy.
    Morando S; Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
    De Sanctis R; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    Sframeli M; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
    Antonaci L; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    Frongia AL; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
    Rohwer A; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom.
    Scoto M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom.
    De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
    Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Day J; Department of Neurology, Stanford University, Palo Alto, California, USA.
    Martens W; University of Rochester Medical Center, Rochester, New York, USA.
    Patanella KA; Department of Neurosciences, Institute of Neurology, Catholic University, Rome, Italy.
    Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
    Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
    Finkel R; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.; St. Jude Children's Research Hospital, Memphis, USA.
    Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
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    Corporate Authors:
    iSMAC group
    Źródło:
    Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2021 Aug; Vol. 8 (8), pp. 1622-1634. Date of Electronic Publication: 2021 Jun 24.
    Typ publikacji:
    Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Outcome Assessment, Health Care*
    Registries*
    Oligonucleotides/*pharmacology
    Spinal Muscular Atrophies of Childhood/*drug therapy
    Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Humans ; Longitudinal Studies ; Male ; Middle Aged ; Oligonucleotides/administration & dosage ; Severity of Illness Index ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Longitudinal natural history of type I spinal muscular atrophy: a critical review.
    Autorzy:
    Mercuri E; Paediatric Neurology, Catholic University, Rome, Italy. .; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. .
    Lucibello S; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    Perulli M; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    Coratti G; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    de Sanctis R; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    Pera MC; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    Pane M; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    Montes J; Departments of Rehabilitation and Regenerative Medicine, Columbia University Medical Center, New York, USA.; Department of Neurology, Columbia University Medical Center, New York, USA.
    de Vivo DC; Department of Neurology, Columbia University Medical Center, New York, USA.
    Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
    Kolb SJ; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.; Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
    Finkel RS; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Apr 05; Vol. 15 (1), pp. 84. Date of Electronic Publication: 2020 Apr 05.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't; Review
    MeSH Terms:
    Muscular Atrophy, Spinal*/genetics
    Spinal Muscular Atrophies of Childhood*/genetics
    Child ; Cohort Studies ; Humans ; Infant ; Infant, Newborn ; Italy ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.
    Autorzy:
    Pera MC; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
    Coratti G; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
    Forcina N; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
    Mazzone ES; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
    Scoto M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
    Montes J; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
    Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
    Mayhew A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
    Messina S; Department of Clinical and Experimental Medicine and Nemo Sud Clinical Center, University of Messina, Messina, Italy.
    Sframeli M; Department of Clinical and Experimental Medicine and Nemo Sud Clinical Center, University of Messina, Messina, Italy.
    Main M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
    Lofra RM; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
    Duong T; Stanford University, Palo Alto, CA, USA.
    Ramsey D; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
    Dunaway S; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
    Salazar R; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
    Fanelli L; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
    Civitello M; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
    de Sanctis R; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
    Antonaci L; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
    Lapenta L; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
    Lucibello S; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
    Pane M; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
    Day J; Stanford University, Palo Alto, CA, USA.
    Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
    De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
    Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
    Finkel R; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
    Mercuri E; Pediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy. .
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    Źródło:
    BMC neurology [BMC Neurol] 2017 Feb 23; Vol. 17 (1), pp. 39. Date of Electronic Publication: 2017 Feb 23.
    Typ publikacji:
    Journal Article; Validation Study
    MeSH Terms:
    Severity of Illness Index*
    Muscular Atrophy, Spinal/*psychology
    Spinal Muscular Atrophies of Childhood/*psychology
    Activities of Daily Living ; Adolescent ; Adult ; Caregivers/psychology ; Child ; Female ; Focus Groups ; Humans ; Male ; Outcome Assessment, Health Care ; Patients/psychology ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-4 z 4

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