Autor: "Sframeli, Maria" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Spinal muscular atrophy: state of the art and new therapeutic strategies.
Autorzy:: Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. .; NEuroMuscular Omnicentre (NEMO) Sud Clinical Centre, University Hospital 'G. Martino', Messina, Italy. .
Sframeli M; NEuroMuscular Omnicentre (NEMO) Sud Clinical Centre, University Hospital 'G. Martino', Messina, Italy.
Maggi L; Neuroimmunology and Neuromuscular Disease Unit, Foundation IRCCS Carlo Besta Neurological Institute, Milan, Italy.
D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Comi G; Neuromuscular and Rare Disease Unit, La Fondazione IRCCS Ca' Granda Ospedale Maggiore di Milano Policlinico, Milan, Italy.; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, University of Milan, Milan, Italy.
Mercuri E; Department of Child Neurology, University Policlinico Gemelli, Rome, Italy.; Pokaż więcej
Źródło:: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Dec; Vol. 43 (Suppl 2), pp. 615-624. Date of Electronic Publication: 2021 Apr 19.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Muscular Atrophy, Spinal*/therapy
Muscular Atrophy, Spinal*/drug therapy
Spinal Muscular Atrophies of Childhood*/drug therapy
Humans ; Oligonucleotides/therapeutic use ; Motor Neurons

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Skocz do pozycji: 2.

Tytuł:: Body mass index in type 2 spinal muscular atrophy: a longitudinal study.
Autorzy:: Ferrantini G; 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.
Onesimo R; Pediatric Unit, Fondazione Policlinico Universitario A. 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.
Bompard S; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Turrini I; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Cicala G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Caprarelli M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Bravetti C; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Berti B; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Giorgio V; Pediatric Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Bruno C; Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Brolatti N; Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Panicucci C; Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Longo A; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Leoni C; Pediatric Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Sansone VA; Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, Italy.
Albamonte E; Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, Italy.
Messina S; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Sframeli M; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. .; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. .; Pokaż więcej
Corporate Authors:: Italian ISMAC study group
Źródło:: European journal of pediatrics [Eur J Pediatr] 2022 May; Vol. 181 (5), pp. 1923-1932. Date of Electronic Publication: 2022 Jan 19.
Typ publikacji:: Journal Article
MeSH Terms:: Muscular Atrophy, Spinal*/epidemiology
Adolescent ; Adult ; Body Mass Index ; Body Weight ; Child ; Child, Preschool ; Cross-Sectional Studies ; Humans ; Infant ; Infant, Newborn ; Longitudinal Studies ; Retrospective Studies ; Young Adult

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Skocz do pozycji: 3.

Tytuł:: Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy.
Autorzy:: Pane M; 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.
Pera MC; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Sansone VA; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.
Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
d'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Bruno C; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
Salmin F; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.
Albamonte E; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.
De Sanctis R; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Sframeli M; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Di Bella V; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Morando S; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
Palermo C; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Frongia AL; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Antonaci L; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Capasso A; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Catteruccia M; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Longo A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Ricci M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Cutrona C; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Pirola A; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.
Bravetti C; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Pedemonte M; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
Brolatti N; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Pokaż więcej
Corporate Authors:: Italian ISMAC group
Źródło:: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2022 Mar; Vol. 9 (3), pp. 404-409. Date of Electronic Publication: 2022 Feb 15.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Muscular Atrophy, Spinal*/drug therapy
Cohort Studies ; Humans ; Oligonucleotides/pharmacology ; Oligonucleotides/therapeutic use ; Upper Extremity

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Skocz do pozycji: 4.

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.; Pokaż więcej
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

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Skocz do pozycji: 5.

Tytuł:: Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients.
Autorzy:: Bianchi L; Functional Proteomics Laboratory, Department of Life Sciences, University of Siena, 53100 Siena, Italy.
Sframeli M; Nemo Sud Clinical Centre, 98125 Messina, Italy.
Vantaggiato L; Functional Proteomics Laboratory, Department of Life Sciences, University of Siena, 53100 Siena, Italy.
Vita GL; Nemo Sud Clinical Centre, 98125 Messina, Italy.
Ciranni A; Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
Polito F; Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
Oteri R; Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
Gitto E; Neonatal and Paediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age, University of Messina, 98125 Messina, Italy.
Di Giuseppe F; Dentistry and Biotechnology, and Proteomics Unit, Centre of Advanced Studies and Technoloy, Department Medical, Oral & Biotechnological Sciences, 'G. d'Annunzio', University of Chieti-Pescara, 66100 Chieti, Italy.
Angelucci S; Dentistry and Biotechnology, and Proteomics Unit, Centre of Advanced Studies and Technoloy, Department Medical, Oral & Biotechnological Sciences, 'G. d'Annunzio', University of Chieti-Pescara, 66100 Chieti, Italy.
Versaci A; Intensive Care Unit, AOU Policlinico 'G. Martino', 98125 Messina, Italy.
Messina S; Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
Vita G; Nemo Sud Clinical Centre, 98125 Messina, Italy.; Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
Bini L; Functional Proteomics Laboratory, Department of Life Sciences, University of Siena, 53100 Siena, Italy.
Aguennouz M; Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2021 Apr 21; Vol. 22 (9). Date of Electronic Publication: 2021 Apr 21.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Therapy*
Oligonucleotides/*pharmacology
Proteome/*analysis
Spinal Muscular Atrophies of Childhood/*therapy
Child, Preschool ; Female ; Humans ; Infant ; Male ; Oligonucleotides/therapeutic use ; Oligonucleotides, Antisense/pharmacology ; Oligonucleotides, Antisense/therapeutic use ; Spinal Muscular Atrophies of Childhood/cerebrospinal fluid ; Spinal Muscular Atrophies of Childhood/drug therapy ; Spinal Muscular Atrophies of Childhood/genetics

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Skocz do pozycji: 6.

Tytuł:: Type I SMA "new natural history": long-term data in nusinersen-treated patients.
Autorzy:: Pane M; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Coratti G; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Sansone VA; Neurorehabilitation Unit, Centro Clinico Nemo, Niguarda Hospital, University of Milan, Milano, Italy.
Messina S; Department of Clinical and Experimental Medicine, University of Messina and Centro Clinico Nemo, Messina, Italy.
Catteruccia M; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Bruno C; Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genoa, Italy.
Sframeli M; Department of Clinical and Experimental Medicine, University of Messina and Centro Clinico Nemo, Messina, Italy.
Albamonte E; Neurorehabilitation Unit, Centro Clinico Nemo, Niguarda Hospital, University of Milan, Milano, Italy.
Pedemonte M; Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genoa, Italy.
D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Bravetti C; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Berti B; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Palermo C; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Leone D; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Brigati G; Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genoa, Italy.
Tacchetti P; Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genoa, Italy.
Salmin F; Neurorehabilitation Unit, Centro Clinico Nemo, Niguarda Hospital, University of Milan, Milano, Italy.
De Sanctis R; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Lucibello S; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Pera MC; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Piastra M; Pediatric Intensive Care Unit, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Genovese O; Pediatric Intensive Care Unit, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Vita G; Department of Clinical and Experimental Medicine, University of Messina and Centro Clinico Nemo, Messina, Italy.
Tiziano FD; Institute of Genomic Medicine, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
Mercuri E; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.; Pokaż więcej
Corporate Authors:: Italian EAP Working Group
Źródło:: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2021 Mar; Vol. 8 (3), pp. 548-557. Date of Electronic Publication: 2021 Feb 06.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Outcome Assessment, Health Care*
Oligonucleotides/*pharmacology
Spinal Muscular Atrophies of Childhood/*drug therapy
Spinal Muscular Atrophies of Childhood/*physiopathology
Adolescent ; Child ; Child, Preschool ; Follow-Up Studies ; Humans ; Infant ; Severity of Illness Index ; Spinal Muscular Atrophies of Childhood/genetics ; Survival of Motor Neuron 2 Protein/genetics

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Skocz do pozycji: 7.

Tytuł:: Which are the factors influencing NIV adaptation and tolerance in ALS patients?
Autorzy:: Russo M; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Bonanno C; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Profazio C; Nemo Sud Clinical Center for Neuromuscular Disorders, University Hospital 'G. Martino', Messina, Italy.
La Foresta S; Nemo Sud Clinical Center for Neuromuscular Disorders, University Hospital 'G. Martino', Messina, Italy.
Faraone C; Nemo Sud Clinical Center for Neuromuscular Disorders, University Hospital 'G. Martino', Messina, Italy.
Lizio A; NEuroMuscular Omnicenter, Serena Onlus Foundation, Milan, Italy.
Vita GL; Nemo Sud Clinical Center for Neuromuscular Disorders, University Hospital 'G. Martino', Messina, Italy.
Sframeli M; Nemo Sud Clinical Center for Neuromuscular Disorders, University Hospital 'G. Martino', Messina, Italy.
Aricò I; Nemo Sud Clinical Center for Neuromuscular Disorders, University Hospital 'G. Martino', Messina, Italy.
Ruggeri P; Pulmonology Unit, Department of Biomedical and Dental Sciences, Morphological and Functional Images, University of Messina, Messina, Italy.
Toscano A; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Vita G; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. .; Nemo Sud Clinical Center for Neuromuscular Disorders, University Hospital 'G. Martino', Messina, Italy. .
Lunetta C; NEuroMuscular Omnicenter, Serena Onlus Foundation, Milan, Italy.
Messina S; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Nemo Sud Clinical Center for Neuromuscular Disorders, University Hospital 'G. Martino', Messina, Italy.; Pokaż więcej
Źródło:: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Mar; Vol. 42 (3), pp. 1023-1029. Date of Electronic Publication: 2020 Jul 24.
Typ publikacji:: Journal Article
MeSH Terms:: Amyotrophic Lateral Sclerosis*/complications
Noninvasive Ventilation*
Respiratory Insufficiency*
Humans ; Quality of Life ; Retrospective Studies

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Skocz do pozycji: 8.

Tytuł:: A Phase 1/2 Study of Flavocoxid, an Oral NF-κB Inhibitor, in Duchenne Muscular Dystrophy.
Autorzy:: Vita GL; Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina University Hospital, Via C. Valeria 1, 98125 Messina, Italy.
Sframeli M; Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina University Hospital, Via C. Valeria 1, 98125 Messina, Italy.
Licata N; Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
Bitto A; Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
Romeo S; Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
Frisone F; Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
Ciranni A; Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
Pallio G; Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
Mannino F; Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
Aguennouz M; Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy.; Faculty of Medicine, Mohammed VI University of Health Sciences, Cheikh Khalifa Ibn Zayed Hospital, Bd. Mohammed Taïeb Naciri, Commune Hay Hassani, Casablanca 82 403, Morocco.
Rodolico C; Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
Squadrito F; Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
Toscano A; Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
Messina S; Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina University Hospital, Via C. Valeria 1, 98125 Messina, Italy.; Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
Vita G; Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina University Hospital, Via C. Valeria 1, 98125 Messina, Italy.; Department of Clinical and Experimental Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy.; Pokaż więcej
Źródło:: Brain sciences [Brain Sci] 2021 Jan 16; Vol. 11 (1). Date of Electronic Publication: 2021 Jan 16.
Typ publikacji:: Journal Article

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Skocz do pozycji: 9.

Tytuł:: The 6-min walk test as a new outcome measure in Amyotrophic lateral sclerosis.
Autorzy:: Russo M; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, AOU Policlinico 'G. Martino', 98125, Messina, Italy.
Lunetta C; NEuroMuscular Omnicentre of Milan, Milan, Italy.
Zuccarino R; NEuroMuscular Omnicentre of Arenzano, Arenzano, Italy.
Vita GL; NEuroMuscular Omnicentre of Messina, University Hospital 'G. Martino', Messina, Italy.
Sframeli M; NEuroMuscular Omnicentre of Messina, University Hospital 'G. Martino', Messina, Italy.
Lizio A; NEuroMuscular Omnicentre of Milan, Milan, Italy.
La Foresta S; NEuroMuscular Omnicentre of Messina, University Hospital 'G. Martino', Messina, Italy.
Faraone C; NEuroMuscular Omnicentre of Messina, University Hospital 'G. Martino', Messina, Italy.
Sansone VA; NEuroMuscular Omnicentre of Milan, Milan, Italy.; Neurorehabilitation Unit, University of Milan, Milan, Italy.
Vita G; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, AOU Policlinico 'G. Martino', 98125, Messina, Italy.; NEuroMuscular Omnicentre of Messina, University Hospital 'G. Martino', Messina, Italy.
Messina S; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, AOU Policlinico 'G. Martino', 98125, Messina, Italy. .; NEuroMuscular Omnicentre of Messina, University Hospital 'G. Martino', Messina, Italy. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2020 Sep 23; Vol. 10 (1), pp. 15580. Date of Electronic Publication: 2020 Sep 23.
Typ publikacji:: Journal Article
MeSH Terms:: Disease Progression*
Amyotrophic Lateral Sclerosis/*physiopathology
Walking/*physiology
Adult ; Aged ; Aged, 80 and over ; Amyotrophic Lateral Sclerosis/diagnosis ; Female ; Humans ; Male ; Middle Aged ; Outcome Assessment, Health Care ; Walk Test/methods

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Skocz do pozycji: 10.

Tytuł:: Psychosocial impact of sport activity in neuromuscular disorders.
Autorzy:: Vita GL; Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina, Italy.
Stancanelli C; Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina, Italy.
La Foresta S; Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina, Italy.
Faraone C; Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina, Italy.
Sframeli M; Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina, Italy.
Ferrero A; Department of Brain and Behavioural Sciences, Unit of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy.
Fattore C; C. Mondino Foundation, Pavia, Italy.
Galbo R; UILDM Lazio Onlus Rehabilitation Centre, Rome, Italy.
Ferraro M; Department of Neuroscience 'Rita Levi Montalcini', University of Turin, Turin, Italy.
Ricci G; Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Cotti Piccinelli S; Centre for Neuromuscular Diseases, Unit of Neurology, ASST 'Spedali Civili', Brescia, Italy.
Pizzighello S; Neurorehabilitation Unit, Scientific Institute IRCCS E. Medea, Conegliano-Pieve di Soligo, Treviso, Italy.
Filosto M; Centre for Neuromuscular Diseases, Unit of Neurology, ASST 'Spedali Civili', Brescia, Italy.
Martinuzzi A; Neurorehabilitation Unit, Scientific Institute IRCCS E. Medea, Conegliano-Pieve di Soligo, Treviso, Italy.
Padua L; Neuroriabilitazione ad Alta Intensità, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Trimarchi G; Faculty of Medicine and Surgery, University of Messina, Messina, Italy.
Siciliano G; Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Mongini T; Department of Neuroscience 'Rita Levi Montalcini', University of Turin, Turin, Italy.
Lombardo ME; UILDM Lazio Onlus Rehabilitation Centre, Rome, Italy.
Berardinelli A; C. Mondino Foundation, Pavia, Italy.
Vita G; Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina, Italy. .; Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. .; Pokaż więcej
Źródło:: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2020 Sep; Vol. 41 (9), pp. 2561-2567. Date of Electronic Publication: 2020 Apr 04.
Typ publikacji:: Journal Article; Multicenter Study
MeSH Terms:: Neuromuscular Diseases*/therapy
Sports*
Adolescent ; Adult ; Athletes ; Humans ; Middle Aged ; Quality of Life ; Self Concept ; Young Adult

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Skocz do pozycji: 11.

Tytuł:: New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges.
Autorzy:: Messina S; Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.; NEuroMuscular Omnicentre (NEMO) Sud Clinical Centre, University Hospital 'G. Martino', 98125 Messina, Italy.
Sframeli M; NEuroMuscular Omnicentre (NEMO) Sud Clinical Centre, University Hospital 'G. Martino', 98125 Messina, Italy.; Pokaż więcej
Źródło:: Journal of clinical medicine [J Clin Med] 2020 Jul 13; Vol. 9 (7). Date of Electronic Publication: 2020 Jul 13.
Typ publikacji:: Journal Article; Review

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Skocz do pozycji: 12.

Tytuł:: Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
Autorzy:: Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Berti B; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Sframeli M; Department of Neurosciences, and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Albamonte E; Neurorehabilitation Unit, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, University of Milan, Milan, Italy.
de Sanctis R; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Messina S; Department of Neurosciences, and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Catteruccia M; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Brigati G; Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Antonaci L; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Lucibello S; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Bruno C; Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Sansone VA; Neurorehabilitation Unit, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, University of Milan, Milan, Italy.
Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Tiziano D; Institute of Genomic Medicine, Università Cattolica del Sacro Cuore Fondazione, Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pane M; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2020 Mar 23; Vol. 15 (3), pp. e0230677. Date of Electronic Publication: 2020 Mar 23 (Print Publication: 2020).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Muscular Atrophy, Spinal/*diagnosis
Age of Onset ; Cohort Studies ; Female ; Humans ; Infant ; Male ; Muscular Atrophy, Spinal/genetics

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Skocz do pozycji: 13.

Tytuł:: Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center.
Autorzy:: La Foresta S; Centro Clinico Nemo Sud, Messina, Italy.
Faraone C; Centro Clinico Nemo Sud, Messina, Italy.
Sframeli M; Centro Clinico Nemo Sud, Messina, Italy.
Vita GL; Centro Clinico Nemo Sud, Messina, Italy.
Russo M; Centro Clinico Nemo Sud, Messina, Italy.
Profazio C; Centro Clinico Nemo Sud, Messina, Italy.
Rulli I; Department of Human Pathology in Adult and Developmental Age, Neonatal and Paediatric Intensive Care Unit, University of Messina, Messina, Italy.
Gitto E; Department of Human Pathology in Adult and Developmental Age, Neonatal and Paediatric Intensive Care Unit, University of Messina, Messina, Italy.
Versaci A; Department of Human Pathology in Adult and Developmental Age, Intensive Care Unit, University of Messina, Messina, Italy.
Messina S; Centro Clinico Nemo Sud, Messina, Italy.; Department of Clinical and Experimental Medicine, Unit of Neurology and Neuromuscular Diseases, University of Messina, Messina, Italy.
Vita G; Centro Clinico Nemo Sud, Messina, Italy. .; Department of Clinical and Experimental Medicine, Unit of Neurology and Neuromuscular Diseases, University of Messina, Messina, Italy. .; Pokaż więcej
Źródło:: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2018 Nov; Vol. 39 (11), pp. 1961-1964. Date of Electronic Publication: 2018 Jul 25.
Typ publikacji:: Journal Article
MeSH Terms:: Oligonucleotides/*administration & dosage
Oligonucleotides, Antisense/*administration & dosage
Spinal Muscular Atrophies of Childhood/*drug therapy
Spinal Muscular Atrophies of Childhood/*psychology
Adolescent ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Infant ; Injections, Spinal/methods ; Italy ; Male ; Treatment Outcome

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Skocz do pozycji: 14.

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. .; Pokaż więcej
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

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Skocz do pozycji: 15.

Tytuł:: Modulation of neuronal nitric oxide synthase and apoptosis by the isoflavone genistein in Mdx mice.
Autorzy:: Messina S; Department of Neurosciences, University of Messina, Messina, Italy.; Centro Clinico Nemo Sud, Messina, Italy.
Bitto A; Department of Clinical and Experimental Medicine, Section of Pharmacology, University of Messina, Messina, Italy.
Vita GL; Department of Neurosciences, University of Messina, Messina, Italy.; Centro Clinico Nemo Sud, Messina, Italy.
Aguennouz M; Department of Neurosciences, University of Messina, Messina, Italy.
Irrera N; Department of Clinical and Experimental Medicine, Section of Pharmacology, University of Messina, Messina, Italy.
Licata N; Department of Neurosciences, University of Messina, Messina, Italy.
Sframeli M; Centro Clinico Nemo Sud, Messina, Italy.
Bruschetta D; Department of Biomorphology and Biotechnologies, University of Messina, Messina, Italy.
Minutoli L; Department of Clinical and Experimental Medicine, Section of Pharmacology, University of Messina, Messina, Italy.
Altavilla D; Department of Paediatric, Gynaecological, Microbiological and Biomedical Sciences, University of Messina, Messina, Italy.
Vita G; Department of Neurosciences, University of Messina, Messina, Italy.; Centro Clinico Nemo Sud, Messina, Italy.
Squadrito F; Department of Clinical and Experimental Medicine, Section of Pharmacology, University of Messina, Messina, Italy.; Pokaż więcej
Źródło:: BioFactors (Oxford, England) [Biofactors] 2015 Sep-Oct; Vol. 41 (5), pp. 324-9. Date of Electronic Publication: 2015 Aug 31.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genistein/*pharmacology
Isoflavones/*pharmacology
Nitric Oxide Synthase Type I/*metabolism
Animals ; Apoptosis/drug effects ; Apoptosis/physiology ; Cyclin D1/metabolism ; Cyclin-Dependent Kinase 4/metabolism ; Cyclin-Dependent Kinase 6/metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Inbred mdx ; Proto-Oncogene Proteins c-bcl-2/metabolism ; bcl-2-Associated X Protein/metabolism

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