Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Autor: Di Feo, Maria Francesca, Oghabian, Ali, Nippala, Ella, Gautel, Mathias, Jungbluth, Heinz, Forzano, Francesca, Malfatti, Edoardo, Castiglioni, Claudia, Krey, Ilona, Gomez Andres, David, Brady, Angela F., Iascone, Maria, Cereda, Anna, Pezzani, Lidia, Natera De Benito, Daniel, Nascimiento Osorio, Andres, Estévez Arias, Berta, Kurbatov, Sergei A., Attie‐Bitach, Tania, Nampoothiri, Sheela

Publikováno v: Annals of Clinical & Translational Neurology; Oct2024, Vol. 11 Issue 10, p2745-2755, 11p

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Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.

Autor: Coratti G; Pediatric Neurology Unit, Catholic University, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Bovis F; Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy., Pera MC; Pediatric Neurology Unit, Catholic University, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Civitello M; St Jude Children's Research Hospital, Memphis, Tennessee, USA., Rohwer A; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Neuromuscular Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Salmin F; NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., Glanzman AM; Department of Physical Therapy Rehabilitation, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Montes J; Columbia University Irving Medical Center, New York, New York, USA., Pasternak A; Neuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., De Sanctis R; Pediatric Neurology Unit, Catholic University, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Dunaway Young S; Department of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, California, USA., Duong T; Department of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, California, USA., Mizzoni I; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Milev E; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Neuromuscular Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Sframeli M; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Morando S; Center of Translational and Experimental Myology, Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy., Albamonte E; NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Catteruccia M; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Brolatti N; Center of Translational and Experimental Myology, Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy., Pane M; Pediatric Neurology Unit, Catholic University, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Scoto M; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Neuromuscular Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Escudero JE; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., De Waele L; Department of Child Neurology, University Hospital Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Hirano M; Columbia University Irving Medical Center, New York, New York, USA., Zolkipli-Cunningham Z; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Darras BT; Neuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Nascimiento Osorio A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Bruno C; Center of Translational and Experimental Myology, Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy., Goemans N; Department of Child Neurology, University Hospital Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Sansone VA; NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., Day J; Department of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, California, USA., Baranello G; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Neuromuscular Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Muntoni F; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Neuromuscular Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Finkel R; Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy., Mercuri E; Pediatric Neurology Unit, Catholic University, Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Publikováno v: European journal of neurology [Eur J Neurol] 2024 Dec; Vol. 31 (12), pp. e16517. Date of Electronic Publication: 2024 Oct 11.