Publications by authors named "Mariacristina Scoto"

40Publications

Spinal muscular atrophy - insights and challenges in the treatment era.

Nat Rev Neurol 2020 Dec 14;16(12):706-715. Epub 2020 Oct 14.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1038/s41582-020-00413-4DOI Listing
December 2020

Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.

Ann Clin Transl Neurol 2020 11 10;7(11):2288-2296. Epub 2020 Oct 10.

The Dubowitz Neuromuscular Centre, Developmental Neuroscience Program, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1002/acn3.51218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7664282PMC
November 2020

Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.

Neuromuscul Disord 2020 09 25;30(9):756-764. Epub 2020 Jul 25.

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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http://dx.doi.org/10.1016/j.nmd.2020.07.005DOI Listing
September 2020

Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen.

Dev Med Child Neurol 2020 03 4;62(3):310-314. Epub 2019 Dec 4.

Institute I-motion, Armand Trousseau Hospital, Paris, France.

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http://dx.doi.org/10.1111/dmcn.14412DOI Listing
March 2020

Development of an academic disease registry for spinal muscular atrophy.

Neuromuscul Disord 2019 10 29;29(10):794-799. Epub 2019 Aug 29.

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.

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http://dx.doi.org/10.1016/j.nmd.2019.08.014DOI Listing
October 2019

Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.

Neurology 2018 10 29;91(14):e1312-e1318. Epub 2018 Aug 29.

From the Institute I-motion (K.A.-G., A.M.S., E.G., M.A., T.G., L.S.), Pediatric Intensive Care Unit (J. Rambaud), and Department of Pediatric Pneumology (J.T.), Armand Trousseau Hospital, Paris, France; Neuromuscular Reference Centre (A.D., L.S.), Citadelle Hospital, Liege, Belgium; Department of Pediatric Physical Medicine and Rehabilitation (C.V.), University Hospital of Lyon; Department of Child Neurology (C.C.), University Hospital of Toulouse; Department of Child Neurology (J. Ropars), University Hospital of Brest; Department of Pediatrics (M.C.), University Hospital of Dijon, France; Department of Neurology & Neurosurgery (I.C.), Brain Center Rudolf Magnus, UMC Utrecht, the Netherlands; Royal Manchester Children's Hospital (I.H.), Manchester; Department of Paediatric Neurology (M.I.) University Hospital Southampton; John Walton Muscular Dystrophy Research Centre (C.M.-B.), Institute of Genetic Medicine, Newcastle University; and Dubowitz Neuromuscular Centre (M.S.), UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000006281DOI Listing
October 2018

Genetic therapies for inherited neuromuscular disorders.

Lancet Child Adolesc Health 2018 08 27;2(8):600-609. Epub 2018 Jun 27.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S2352-4642(18)30140-8DOI Listing
August 2018

Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function.

Pediatr Phys Ther 2018 07;30(3):209-215

Departments of Neurology (Drs Salazar, Montes, Young, Chiriboga, and De Vivo) and Rehabilitation and Regenerative Medicine (Drs Montes and Young), Columbia University Medical Center, New York, New York; Departments of Biostatistics and Computational Biology (Dr McDermott) and Neurology (Mr Martens and Dr McDermott), University of Rochester, Rochester, New York; Departments of Neurology (Dr Darras) and Physical Therapy and Occupational Therapy Services (Drs Pasternak and Mirek and Ms Quigley), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Division of Neurology (Dr Tennekoon) and Department of Physical Therapy (Dr Glanzman), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology (Mr Civitello and Dr Finkel), Nemours Children's Hospital, Orlando, Florida; Department of Neurology (Mr Gee, Ms Duong, and Dr Day), Stanford University School of Medicine, Palo Alto, California; Department of Paediatric Neurology (Mss Mazzone, Coratti, and Fanelli, Messrs De Sanctis and Forcina, and Dr Mercuri), Catholic University, Rome, Italy; Dubowitz Neuromuscular Centre (Mss Main and Ramsey and Drs Scoto and Muntoni), UCL Great Ormond Street Institute of Child Health, London, United Kingdom; John Walton Muscular Dystrophy Research Centre (Dr Mayhew and Mr Muni Lofra), Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom.

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http://Insights.ovid.com/crossref?an=00001577-201807000-0001
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http://dx.doi.org/10.1097/PEP.0000000000000515DOI Listing
July 2018

Dystrophinopathies and Limb-Girdle Muscular Dystrophies.

Neuropediatrics 2017 Aug 20;48(4):262-272. Epub 2017 Apr 20.

UCL Great Ormond Street Institute of Child Health, Department of Molecular Neurosciences, Dubowitz Neuromuscular Centre and Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.1055/s-0037-1601860DOI Listing
August 2017

Altered Levels of MicroRNA-9, -206, and -132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy.

Mol Ther Nucleic Acids 2016 Jul 5;5(7):e331. Epub 2016 Jul 5.

Dubowitz Neuromuscular Centre and Developmental Neuroscience Programme, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1038/mtna.2016.47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014531PMC
July 2016

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Brain 2015 Nov 10;138(Pt 11):e392. Epub 2015 Jun 10.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital. Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awv160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4719680PMC
November 2015

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Neurology 2015 Feb 21;84(7):668-79. Epub 2015 Jan 21.

From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.

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http://www.neurology.org/content/84/7/668.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000126
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http://dx.doi.org/10.1212/WNL.0000000000001269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336105PMC
February 2015

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Brain 2015 Feb 14;138(Pt 2):293-310. Epub 2014 Dec 14.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital, Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awu356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306822PMC
February 2015

Congenital myopathies: Natural history of a large pediatric cohort.

Neurology 2015 Jan 26;84(1):28-35. Epub 2014 Nov 26.

From the Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Disorders (I.C., M.S., A.Y.M., S.A.R., V.G., C.S., F.M.), University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, UK; Neuromuscular Unit (I.C.), Department of Neurological Sciences, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Dino Ferrari Centre, Milan, University of Milan; Muscle Pathology and Neuroimmunology Unit (L.M.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy; DNA Laboratory (T.C., M.Y.), GSTS Pathology, Guy's Hospital, London; University College London Department of Neurology (R.P.), National Hospital for Neurology and Neurosurgery, London; Wolfson Centre for Inherited Neuromuscular Diseases RJAH (C.S.), Oswestry; Department of Paediatric Neurology (H.J.), Evelina Children's Hospital, London; Randall Division for Cell and Molecular Biophysics (H.J.), Muscle Signalling Section, King's College, London; and Clinical Neuroscience Division (H.J.), IoP, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000001110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336094PMC
January 2015

BAG3 mutations: another cause of giant axonal neuropathy.

J Peripher Nerv Syst 2012 Jun;17(2):210-6

MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00409.xDOI Listing
June 2012

Prognostic value of a scorable neurological examination from 3 to 12 months post-term age in very preterm infants: a longitudinal study.

Early Hum Dev 2009 Jun 20;85(6):405-8. Epub 2009 Feb 20.

Division of Child Neurology and Psychiatry, Dept of Paediatrics, University of Catania, Italy.

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http://dx.doi.org/10.1016/j.earlhumdev.2009.01.004DOI Listing
June 2009

Development of the forward parachute reaction and the age of walking in near term infants: a longitudinal observational study.

BMC Pediatr 2009 Feb 16;9:13. Epub 2009 Feb 16.

Division of Child Neurology and Psychiatry, Department of Paediatrics, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1186/1471-2431-9-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653025PMC
February 2009

Early neurologic assessment in preterm-infants: integration of traditional neurologic examination and observation of general movements.

Eur J Paediatr Neurol 2008 May 18;12(3):183-9. Epub 2007 Sep 18.

Division of Child Neurology and Psychiatry, Department of Paediatrics, University of Catania, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2007.07.008DOI Listing
May 2008

Neuromotor development in infants with cerebral palsy investigated by the Hammersmith Infant Neurological Examination during the first year of age.

Eur J Paediatr Neurol 2008 Jan 2;12(1):24-31. Epub 2007 Jul 2.

Division of Child Neurology and Psychiatry, Department of Paediatrics, University of Catania, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2007.05.006DOI Listing
January 2008