Publications by authors named "Eugenio Mercuri"

100Publications

Nusinersen in type 0 spinal muscular atrophy: should we treat?

Ann Clin Transl Neurol 2020 Nov 4. Epub 2020 Nov 4.

Pediatric Neurology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1002/acn3.51126DOI Listing
November 2020

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

Nat Rev Neurol 2020 Oct 14. 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
October 2020

Early Neurological Assessment and Long-Term Neuromotor Outcomes in Late Preterm Infants: A Critical Review.

Medicina (Kaunas) 2020 Sep 15;56(9). Epub 2020 Sep 15.

Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00146 Rome, Italy.

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http://dx.doi.org/10.3390/medicina56090475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7558342PMC
September 2020

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.

Acta Myol 2020 Jun 1;39(2):57-66. Epub 2020 Jun 1.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Neuroscience Section, University of Milan, Italy.

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http://dx.doi.org/10.36185/2532-1900-008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460733PMC
June 2020

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

Neuromuscul Disord 2020 Sep 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

Gain and loss of abilities in type II SMA: A 12-month natural history study.

Neuromuscul Disord 2020 Sep 13;30(9):765-771. Epub 2020 Jul 13.

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.2020.07.004DOI Listing
September 2020

European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy.

Eur J Paediatr Neurol 2020 Sep 9;28:38-43. Epub 2020 Jul 9.

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

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http://dx.doi.org/10.1016/j.ejpn.2020.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7347351PMC
September 2020

Early visual and neuro-development in preterm infants with and without retinopathy.

Early Hum Dev 2020 Sep 11;148:105134. Epub 2020 Jul 11.

Paediatric Neurology and Psychiatry, Catholic University, Largo A. Gemelli 8, Rome, Italy; Pediatric Neurology Unit, Fondazione Policlinico A. Gemelli IRCCS, Largo A. Gemelli 8, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.earlhumdev.2020.105134DOI Listing
September 2020

Suitability of external controls for drug evaluation in Duchenne muscular dystrophy.

Neurology 2020 09 1;95(10):e1381-e1391. Epub 2020 Jul 1.

From the University Hospitals Leuven (N.G.), Child Neurology, Belgium; Analysis Group, Inc (J.S., G.S., Z.Y.), Boston; Collaborative Trajectory Analysis Project (J.S., S.J.W.), Cambridge, MA; Children's National Medical Center (H.G.-D.), Research Center for Genetic Medicine, Washington, DC; Department of Physical Medicine and Rehabilitation and Pediatrics (C.M.M.), University of California, Davis, Sacramento; Department of Physical Therapy (K.V.), University of Florida, Gainesville; CureDuchenne (D.M.), Newport Beach, CA; and Department of Pediatric Neurology (E.M.), Fondazione Policlinico Gemelli IRCCS, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000010170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7538219PMC
September 2020

Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA. Rome, 13 July 2019.

Neuromuscul Disord 2020 05 7;30(5):431-436. Epub 2020 Mar 7.

Neurorehabilitation Unit, University of Milan, Centro Clinico Nemo, Niguarda Hospital, Milano, Italy.

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http://dx.doi.org/10.1016/j.nmd.2020.02.019DOI Listing
May 2020

Reply.

J Pediatr 2020 08 4;223:227-228. Epub 2020 May 4.

Department of Child Neurology, University Policlinico Gemelli, Rome, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2020.04.069DOI Listing
August 2020

Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.

Brain Dev 2020 Jun 21;42(6):457-461. Epub 2020 Mar 21.

UOC Neurofisiopatologia Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.braindev.2020.03.001DOI Listing
June 2020

Nusinersen in adults with spinal muscular atrophy: new challenges.

Lancet Neurol 2020 04 18;19(4):283-284. Epub 2020 Mar 18.

Neurorehabilitation Unit, University of Milan, The NEMO Clinical Center in Milan, Milan, Italy.

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http://dx.doi.org/10.1016/S1474-4422(20)30068-5DOI Listing
April 2020

Early Childhood Attention Battery: Italian adaptation and new expanded normative data.

Early Hum Dev 2020 May 13;144:105013. Epub 2020 Mar 13.

Pediatric Neurology Unit, Catholic University of Sacred Heart, Fondazione Policlinico Agostino Gemelli IRCCS, Rome, Italy; National Centre of Services and Research for the Prevention of Blindness and Rehabilitation of Low Vision Patients - IAPB Italia onlus, Italy.

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http://dx.doi.org/10.1016/j.earlhumdev.2020.105013DOI Listing
May 2020

Pediatric Motor Inflammatory Neuropathy: The Role of Antiphospholipid Antibodies.

Brain Sci 2020 Mar 7;10(3). Epub 2020 Mar 7.

Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario A. Gemelli IRCSS, Università Cattolica del Sacro Cuore, Roma 00168, Italy.

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http://dx.doi.org/10.3390/brainsci10030156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139660PMC
March 2020

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy.

Neurology 2020 05 5;94(21):e2270-e2282. Epub 2020 Mar 5.

From Sarepta Therapeutics (D.E.F., F.J.S., C.A., S.H.E.-H., C.A.D., J.S.C.), Cambridge, MA; University College London (J.M., V.S., J.D., F.M.); Centre of Gene and Cell Therapy and Centre for Biomedical Sciences (G.D.), Royal Holloway, University of London, Egham, Surrey; Newcastle University John Walton Muscular Dystrophy Research Centre and the Newcastle Hospitals NHS Foundation Trust (V.S., M.G.), Newcastle upon Tyne, UK; Paediatric Neurology and Centro Clinico Nemo (E.M.), Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; Institute I-Motion (L.S.), Hôpital Armand-Trousseau, Paris, France; Neuromuscular Reference Center (L.S.), CHU Liège, Belgium; Great Ormond Street Hospital (F.M.); and NIHR Great Ormond Street Hospital Biomedical Research Centre (F.M.), London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000009233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357297PMC
May 2020

Hypoglycaemia in patients with type 1 SMA: an underdiagnosed problem?

Arch Dis Child 2020 07 20;105(7):707. Epub 2019 Dec 20.

Department of Woman and Child Health and Public Health, Paediatric Neurology and Neuromuscular Omnicentre Clinical Center, Fondazione Policlinico Universitario A Gemelli IRCCS, Roma, Italy

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http://dx.doi.org/10.1136/archdischild-2019-318120DOI Listing
July 2020

A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy.

Neuromuscul Disord 2019 12 22;29(12):940-950. Epub 2019 Oct 22.

Pediatric Neurology Unit, Catholic University, Largo Gemelli 8, 00168 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.2019.10.001DOI Listing
December 2019

Muscular dystrophies.

Lancet 2019 11;394(10213):2025-2038

Dubowitz Neuromuscular Centre, University College London, 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/S0140-6736(19)32910-1DOI Listing
November 2019

MYO-MRI diagnostic protocols in genetic myopathies.

Neuromuscul Disord 2019 11 16;29(11):827-841. Epub 2019 Sep 16.

Robert-Yves Carlier, Service de Radiologie et Imagerie Médicale Hôpital Raymond Poincaré, Hôpitaux de Paris (AP-HP), Garches, France; Centre de référence des maladies neuro-musculaires Paris-Nord-ESt, Filenemus, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.011DOI Listing
November 2019

Longitudinal natural history in young boys with Duchenne muscular dystrophy.

Neuromuscul Disord 2019 11 26;29(11):857-862. Epub 2019 Sep 26.

Paediatric Neurology, Catholic University, Rome, Italy; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.09.010DOI Listing
November 2019

Sleep disorders in low-risk preschool very preterm children.

Sleep Med 2019 11 27;63:137-141. Epub 2019 May 27.

Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.sleep.2019.04.016DOI Listing
November 2019

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

Performance of Upper Limb module for Duchenne muscular dystrophy.

Dev Med Child Neurol 2020 05 19;62(5):633-639. Epub 2019 Sep 19.

Child Neurology Unit e Centro Nemo, IRCCS Fondazione Policlinico Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1111/dmcn.14361DOI Listing
May 2020

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Neurol Genet 2019 Oct 16;5(5):e352. Epub 2019 Aug 16.

IRCCS Fondazione Stella Maris (A.R., G.A., J.B., G.B., S.L., F.M.S., D.C.), Pisa, Italy; Department of Medicine (A.M., C.B., M.T.D., A.F., F.G., S.S., N.V.), Surgery and Neurosciences, University of Siena; Department of Clinical and Experimental Medicine (C.D., G.S., D.T.), University of Pisa; Metabolic Disease Unit (M.A.D., M.S.), AOU Meyer Children Hospital, Florence; Department of Molecular and Developmental Medicine (S.G.), University of Siena, Siena; Pediatric Neurology (R.G., F.M.), AOU Meyer Children Hospital, Florence; Neurophysiopathology Multiple Sclerosis Center Hospital Binaghi (M.A.M.), Cagliari; Pediatric Neurology and Nemo Clinical Centre (E.M.), Fondazione Policlinico Universitario "A. Gemelli IRCSS", Università Cattolica del Sacro Cuore, Rome; and Department of Neurosciences (P.T.), Biomedicine and Movement Sciences, University of Verona, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6705647PMC
October 2019

Early neurodevelopmental characterization in children with cobalamin C/defect.

J Inherit Metab Dis 2020 03 16;43(2):367-374. Epub 2020 Jan 16.

Pediatric Neurology, Department of Human and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.

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http://dx.doi.org/10.1002/jimd.12171DOI Listing
March 2020

Long-term progression in type II spinal muscular atrophy: A retrospective observational study.

Neurology 2019 09 26;93(13):e1241-e1247. Epub 2019 Aug 26.

From Pediatric Neurology (E.M., S.L., M.C.P., G.C., L.A., A.L.F.), Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore; Centro Clinico Nemo (E.M., S.L., M.C.P., S.C., G.C., R.d.S., E.M., N.F., L.F., G.N., L.A., A.L.F., M.P.), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome; and Department of Neurosciences, Psychiatry and Anaesthesiology (S.M.), University of Messina, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000008166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011866PMC
September 2019

Neonatal hypotonia and neuromuscular conditions.

Handb Clin Neurol 2019 ;162:435-448

Department of Pediatric Neurology, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1016/B978-0-444-64029-1.00021-7DOI Listing
January 2020

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.

Neurology 2019 04 6;92(14):e1600-e1609. Epub 2019 Mar 6.

From the Neuromuscular Research Center (M. Jokela, S.L., J.P., B.U.), Department of Neurology, University Hospital and University of Tampere; Division of Clinical Neurosciences (M. Jokela), Department of Neurology, Turku University Hospital and University of Turku; Kiinamyllynkatu 4-8 (M. Jokela), Turku, Finland; Unità Operativa Complessa di Neurologia (G.T.), Dipartimento di Scienze dell'Invecchiamento, Neurologiche, Ortopediche e della Testa-Collo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Folkhälsan Institute of Genetics and Department of Medical Genetics (A.V., P.-H.J., S.V., M. Johari, M.S.), Haartman Institute, University of Helsinki, Finland; Institute of Pediatric Neurology (E.M., M.P.), Catholic University School of Medicine, Rome, Italy; Department of Pathology (S.H.), Fimlab Laboratories, Tampere University Hospital, Finland; Metabolic and Neuromuscular Unit (M.D.), Meyer Hospital, Florence, Italy; Department of Pediatric Neurology (P.I.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Department of Neurology (P.H.), Kuopio University Hospital and University of Eastern Finland; and Department of Neurology (B.U.), Vasa Central Hospital, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000007246DOI Listing
April 2019

Resolution of skin necrosis after nusinersen treatment in an infant with spinal muscular atrophy.

Muscle Nerve 2019 06 22;59(6):E42-E44. Epub 2019 Mar 22.

The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.

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http://dx.doi.org/10.1002/mus.26457DOI Listing
June 2019

Does albuterol have an effect on neuromuscular junction dysfunction in spinal muscular atrophy?

Neuromuscul Disord 2018 10 4;28(10):863-864. Epub 2018 Aug 4.

Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario "A. Gemelli IRCSS", Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183106
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http://dx.doi.org/10.1016/j.nmd.2018.07.013DOI 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

An observational study of functional abilities in infants, children, and adults with type 1 SMA.

Neurology 2018 08 25;91(8):e696-e703. Epub 2018 Jul 25.

From Paediatric Neurology and Centro Clinico Nemo (M. Pane, C.P., R.d.S., G.C., S.L.), Catholic University and Fondazione Policlinico Gemelli IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M., M.S., G.V., E.M.), University of Messina and Centro Clinico Nemo, Messina; Neurorehabilitation Unit (V.S., E.A.), University of Milan, Centro Clinico Nemo, Niguarda Hospital, Milan; Center of Myology and Neurodegenerative Disorders (C.B., M. Pedemonte, G.B.), Istituto Giannina Gaslini, Genoa; Unit of Neuromuscular and Neurodegenerative Disorders (M.C., A.D., E.B.), Bambino Gesù Children's Hospital, Rome; and Institute of Genomic Medicine (F.D.T.), Catholic University, Rome, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000006050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107268PMC
August 2018

Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30-31 January 2017.

Neuromuscul Disord 2018 08 6;28(8):690-701. Epub 2018 Jun 6.

Pediatric Neurology Unit, Fondazione Policlinico Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.05.013DOI 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

Neurological assessment of late-preterm infants during the first year of age.

Eur J Paediatr Neurol 2018 07;22(4):579-580

Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2018.05.011DOI Listing
July 2018

Effects of Lycra suits in children with cerebral palsy.

Eur J Paediatr Neurol 2018 Sep 3;22(5):831-836. Epub 2018 May 3.

Paediatric Neurology Unit, Catholic University, Largo A. Gemelli, 00168, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173203
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http://dx.doi.org/10.1016/j.ejpn.2018.04.014DOI Listing
September 2018

Meeting report of the "Regulatory Exchange Matters" session at the 5th International TREAT-NMD Conference:: Lessons in communication: How an early dialogue between patients, regulators and academics can further therapy development for neuromuscular disorders Freiburg, Germany, 27-29 November 2017.

Neuromuscul Disord 2018 07 20;28(7):619-623. Epub 2018 Apr 20.

Central Nervous System and Ophthalmology, Scientific and Regulatory Management Department, Human Medicines Evaluation Division, EMA, London, United Kingdom.

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http://dx.doi.org/10.1016/j.nmd.2018.04.009DOI Listing
July 2018

Evidence-based care in Duchenne muscular dystrophy.

Lancet Neurol 2018 05;17(5):389-391

Pediatric Neurology Unit and Nemo Center, Policlinico Gemelli, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1016/S1474-4422(18)30115-7DOI Listing
May 2018

Joint Laxity in Preschool Children Born Preterm.

J Pediatr 2018 06 9;197:104-108. Epub 2018 Apr 9.

Pediatric Neurology Unit, Catholic University, Fondazione Policlinico A. Gemelli, Rome, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2018.02.008DOI Listing
June 2018

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

N Engl J Med 2018 02;378(7):625-635

From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).

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http://dx.doi.org/10.1056/NEJMoa1710504DOI Listing
February 2018

Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy.

Nat Rev Neurol 2018 Apr 19;14(4):197-198. Epub 2018 Jan 19.

Centro Clinico Nemo, Policlinico A. Gemelli, Largo A.Gemelli 8, 00168 Rome, Italy; and at the Paediatric Neurology Unit, Catholic University of Sacred Heart, Largo A.Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1038/nrneurol.2017.189DOI Listing
April 2018

Neuromuscular disorders: 2017, a year to remember.

Authors:
Eugenio Mercuri

Lancet Neurol 2018 01 16;17(1):12-13. Epub 2017 Dec 16.

Paediatric Neurology Unit, Department of Women's and Children's Health, Università Cattolica del Sacro Cuore, Rome 00168 RM, Italy. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(17)30418-0DOI Listing
January 2018

Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy.

Neuromuscul Disord 2018 01 10;28(1):24-28. Epub 2017 Oct 10.

Centro Clinico Nemo, Policlinico A. Gemelli, Largo A.Gemelli 8, 00168 Rome, Italy; Paediatric Neurology Unit, Catholic University of Sacred Heart, Largo A.Gemelli 8, 00168 Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.09.015DOI Listing
January 2018

Early involvement of the supinator muscle in Duchenne muscular dystrophy.

Neuromuscul Disord 2018 01 4;28(1):62-63. Epub 2017 Oct 4.

Pediatric Neurology and Nemo Clinical Centre, Università Cattolica Sacro Cuore, Fondazione A. Gemelli, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.09.011DOI Listing
January 2018

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience.

Neuromuscul Disord 2017 12 21;27(12):1084-1086. Epub 2017 Sep 21.

Paediatric Neurology and Centro Clinico Nemo, Catholic University and Policlinico Gemelli, Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2017.09.006DOI Listing
December 2017

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

N Engl J Med 2017 11;377(18):1723-1732

From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).

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http://www.nejm.org/doi/10.1056/NEJMoa1702752
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http://dx.doi.org/10.1056/NEJMoa1702752DOI Listing
November 2017

Longitudinal assessments in discordant twins with SMA.

Neuromuscul Disord 2017 Oct 8;27(10):890-893. Epub 2017 Jul 8.

Paediatric Neurology, Catholic University, Rome, Italy; Centro Clinico Nemo, Policlinico Gemelli, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.06.559DOI Listing
October 2017