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Wyszukujesz frazę ""De Vivo DC"" wg kryterium: Autor


Wyświetlanie 1-9 z 9
Tytuł :
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.
Autorzy :
Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Lucibello S; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Montes J; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, United States; Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Irving Medical Center, New York, United States.
Pasternak A; Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Mayhew A; The John Walton Muscular Dystrophy Research Centre, Newcastle University, Integrated Laboratory Medicine Directorate, Institute of Genetic Medicine, Newcastle Upon Tyne NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom.
Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia.
Young SD; Department of Neurology, Stanford University, Stanford, CA, United States.
Pane M; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Scoto M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London.
Messina S; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Osorio AN; Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona, Spain.
Pedemonte M; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Sansone V; Neurorehabilitation Unit, University of Milan, The NEMO Clinical Center in Milan, Italy.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino GesùChildren's Hospital, Rome, Italy.
De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, United States.
Finkel R; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, United States.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Electronic address: .
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Corporate Authors :
ISMAC group and collaborators.
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2020 Sep; Vol. 30 (9), pp. 756-764. Date of Electronic Publication: 2020 Jul 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.
Autorzy :
De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address: .
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
Swoboda KJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Hwu WL; Departments of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Crawford TO; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Finkel RS; Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.
Kirschner J; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Neuropediatrics, University Medical Hospital, Bonn, Germany.
Kuntz NL; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Parsons JA; Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA.
Ryan MM; Royal Children's Hospital, University of Melbourne, Murdoch Children's Research Institute, Melbourne, Australia.
Butterfield RJ; Department of Pediatrics and Neurology, University of Utah, Salt Lake City, UT, USA.
Topaloglu H; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.
Ben-Omran T; Sidra Medicine, Department of Pediatrics, Qatar Foundation, Doha, Qatar; Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
Sansone VA; NEMO Clinical Center - NEuroMuscular Omniservice, Milan, Italy; Department of Biomedical Sciences for Health, Università degli Studi di Milano, Milan, Italy.
Jong YJ; Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University; Departments of Pediatrics and Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
Shu F; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Staropoli JF; Biogen, Cambridge, MA, USA.
Kerr D; Biogen, Cambridge, MA, USA.
Sandrock AW; Biogen, Cambridge, MA, USA.
Stebbins C; Biogen, Cambridge, MA, USA.
Petrillo M; Biogen, Cambridge, MA, USA.
Braley G; Biogen, Cambridge, MA, USA.
Johnson K; Biogen, Cambridge, MA, USA.
Foster R; Biogen, Maidenhead, Berkshire, UK.
Gheuens S; Biogen, Cambridge, MA, USA.
Bhan I; Biogen, Cambridge, MA, USA.
Reyna SP; Biogen, Cambridge, MA, USA.
Fradette S; Biogen, Cambridge, MA, USA.
Farwell W; Biogen, Cambridge, MA, USA.
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Corporate Authors :
NURTURE Study Group
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2019 Nov; Vol. 29 (11), pp. 842-856. Date of Electronic Publication: 2019 Sep 12.
Typ publikacji :
Clinical Trial, Phase II; Journal Article; Multicenter Study
MeSH Terms :
Muscular Atrophy, Spinal/*therapy
Oligonucleotides/*administration & dosage
Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Male ; Motor Activity ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/physiopathology ; Oligonucleotides/adverse effects ; Survival of Motor Neuron 2 Protein/genetics ; Time Factors ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Developmental milestones in type I spinal muscular atrophy.
Autorzy :
De Sanctis R; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Coratti G; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
Montes J; Department of Neurology, Columbia University Medical Center, New York, USA.
Pane M; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Mazzone ES; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Young SD; Department of Neurology, Columbia University Medical Center, New York, USA.
Salazar R; Department of Neurology, Columbia University Medical Center, New York, USA.
Quigley J; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
Pera MC; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Antonaci L; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Lapenta L; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy.
Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, USA.
Tiziano D; Institute of Genetics, Catholic University, Rome, Italy.
Muntoni F; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, USA.
Finkel R; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
Mercuri E; Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Rome, Italy. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2016 Nov; Vol. 26 (11), pp. 754-759. Date of Electronic Publication: 2016 Oct 05.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Spinal Muscular Atrophies of Childhood/*physiopathology
Child Development ; Child, Preschool ; Disease Progression ; Humans ; Infant ; Longitudinal Studies ; Motor Skills ; Neurologic Examination ; Retrospective Studies ; Spinal Muscular Atrophies of Childhood/therapy
Czasopismo naukowe
Tytuł :
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.
Autorzy :
Mercuri E; Department of Paediatric Neurology, Catholic University, Rome, Italy. Electronic address: .
Finkel R; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
Montes J; Department of Neurology, Columbia University Medical Center, New York, USA.
Mazzone ES; Department of Paediatric Neurology, Catholic University, Rome, Italy.
Sormani MP; Biostatistics Unit, Department of Health Sciences, University of Genoa, Genoa, Italy.
Main M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Ramsey D; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Mayhew A; Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Dunaway S; Department of Neurology, Columbia University Medical Center, New York, USA.
Salazar R; Department of Neurology, Columbia University Medical Center, New York, USA.
Pasternak A; Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Quigley J; Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Pane M; Department of Paediatric Neurology, Catholic University, Rome, Italy.
Pera MC; Department of Paediatric Neurology, Catholic University, Rome, Italy.
Scoto M; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
Messina S; Department of Neurosciences and Nemo Sud Clinical Centre, University of Messina, Messina, Italy.
Sframeli M; Department of Neurosciences and Nemo Sud Clinical Centre, University of Messina, Messina, Italy.
Vita GL; Department of Neurosciences and Nemo Sud Clinical Centre, University of Messina, Messina, Italy.
D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
van den Hauwe M; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Sivo S; Department of Paediatric Neurology, Catholic University, Rome, Italy.
Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Kaufmann P; Department of Neurology, Columbia University Medical Center, New York, USA.
Darras BT; Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
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, UK.
De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, USA.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2016 Feb; Vol. 26 (2), pp. 126-31. Date of Electronic Publication: 2015 Dec 03.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Disease Progression*
Mobility Limitation*
Spinal Muscular Atrophies of Childhood/*physiopathology
Adolescent ; Adult ; Child ; Child, Preschool ; Clinical Trials as Topic ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Young Adult
Czasopismo naukowe
Tytuł :
Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy.
Autorzy :
Sproule DM; Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032-3791, USA. />Montes J
Dunaway S
Montgomery M
Battista V
Koenigsberger D
Martens B
Shen W
Punyanitya M
Benton M
Butler H
Caracciolo J
Mercuri E
Finkel R
Darras B
De Vivo DC
Kaufmann P
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2010 Jul; Vol. 20 (7), pp. 448-52. Date of Electronic Publication: 2010 Jun 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Adiposity/*physiology
Muscular Atrophy, Spinal/*complications
Absorptiometry, Photon/methods ; Adolescent ; Adult ; Age Factors ; Anthropometry/methods ; Body Composition/physiology ; Child ; Child, Preschool ; Cohort Studies ; Deglutition Disorders/etiology ; Disability Evaluation ; Female ; Humans ; Male ; Muscular Atrophy, Spinal/classification ; Overweight/etiology ; Respiratory Function Tests/methods ; Young Adult
Czasopismo naukowe
Tytuł :
Reliability of telephone administration of the PedsQL Generic Quality of Life Inventory and Neuromuscular Module in spinal muscular atrophy (SMA).
Autorzy :
Dunaway S; SMA Clinical Research Center, Columbia University Medical Center, New York, NY, USA.
Montes J
Montgomery M
Battista V
Koo B
Marra J
De Vivo DC
Hynan LS
Iannaccone ST
Kaufmann P
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2010 Mar; Vol. 20 (3), pp. 162-5. Date of Electronic Publication: 2010 Jan 13.
Typ publikacji :
Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Quality of Life*
Telephone*
Outcome Assessment, Health Care/*methods
Psychometrics/*methods
Spinal Muscular Atrophies of Childhood/*diagnosis
Spinal Muscular Atrophies of Childhood/*psychology
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Interpersonal Relations ; Male ; Parents/psychology ; Reproducibility of Results ; Self Concept ; Statistics as Topic ; Surveys and Questionnaires
Czasopismo naukowe
Tytuł :
Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy.
Autorzy :
Sproule DM; Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, Harkness Pavilion, HP-514, 180 Fort Washington Avenue, New York, NY 10032-3791, USA. />Montes J
Montgomery M
Battista V
Koenigsberger D
Shen W
Punyanitya M
De Vivo DC
Kaufmann P
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2009 Jun; Vol. 19 (6), pp. 391-6. Date of Electronic Publication: 2009 May 07.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Adipose Tissue*/diagnostic imaging
Body Composition*
Body Mass Index*
Muscular Atrophy, Spinal/*epidemiology
Overweight/*epidemiology
Absorptiometry, Photon ; Adolescent ; Anthropometry ; Child ; Child, Preschool ; Cohort Studies ; Female ; Humans ; Incidence ; Male ; ROC Curve
Czasopismo naukowe
Tytuł :
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients.
Autorzy :
O'Hagen JM; Columbia University, New York, NY, USA. />Glanzman AM
McDermott MP
Ryan PA
Flickinger J
Quigley J
Riley S
Sanborn E
Irvine C
Martens WB
Annis C
Tawil R
Oskoui M
Darras BT
Finkel RS
De Vivo DC
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2007 Oct; Vol. 17 (9-10), pp. 693-7. Date of Electronic Publication: 2007 Jul 19.
Typ publikacji :
Evaluation Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Disability Evaluation*
Severity of Illness Index*
Motor Activity/*physiology
Spinal Muscular Atrophies of Childhood/*diagnosis
Spinal Muscular Atrophies of Childhood/*physiopathology
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Male ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.
Autorzy :
Karadimas CL; Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
Salviati L
Sacconi S
Chronopoulou P
Shanske S
Bonilla E
De Vivo DC
DiMauro S
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2002 Nov; Vol. 12 (9), pp. 865-8.
Typ publikacji :
Case Reports; Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Point Mutation*
DNA, Mitochondrial/*genetics
Mitochondrial Myopathies/*genetics
Ophthalmoplegia/*genetics
Adult ; Alleles ; Base Sequence ; DNA Mutational Analysis ; Female ; Glycine/genetics ; Humans ; Mitochondrial Myopathies/complications ; Muscle, Skeletal ; Ophthalmoplegia/complications ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; RNA, Transfer/genetics ; RNA, Transfer, Leu/genetics
Czasopismo naukowe
    Wyświetlanie 1-9 z 9

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