Eugenio Mercuri

Eugenio Mercuri

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Eugenio Mercuri

Eugenio Mercuri

Publications by authors named "Eugenio Mercuri"

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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

Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.

Ann Neurol 2019 Sep 8;86(3):443-451. Epub 2019 Jul 8.

Paediatric Neurology and Neuromuscular Omnicentre Clinical Center, Agostino Gemelli University Polyclinic Foundation, Scientific Institute for Research and Health Care, Rome.

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http://dx.doi.org/10.1002/ana.25533DOI Listing
September 2019

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

Neurology 2019 Aug 26. 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
August 2019

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

Muscle Nerve 2019 Jun 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

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

Neurology 2019 Apr 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

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 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.

Nucleic Acid Ther 2017 Oct 10;27(5):251-259. Epub 2017 Aug 10.

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

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http://dx.doi.org/10.1089/nat.2017.0682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649120PMC
October 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

218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016.

Neuromuscul Disord 2017 06 2;27(6):596-605. Epub 2017 Mar 2.

Pediatric Neurology, Policlinico Gemelli, Catholic University and Centro Nemo, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.014DOI Listing
June 2017

Sleep disorders in spinal muscular atrophy.

Sleep Med 2017 02 30;30:160-163. Epub 2016 Nov 30.

Department of Paediatric Neurology, Catholic University, Rome, Italy; Nemo Roma Center for Neuromuscular Disorders, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.sleep.2016.11.012DOI Listing
February 2017

Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?

Neuromuscul Disord 2016 Apr-May;26(4-5):261-3

Child Neurology Unit, Catholic University, Largo Gemelli, 00168 Roma, Italy; Nemo Rome, Policlinico Gemelli, Largo Gemelli, 00168 Roma, Italy.

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http://dx.doi.org/10.1016/j.nmd.2016.04.001DOI Listing
January 2017

Intravenous immunoglobulin for Pediatric Neuropsychiatric Lupus Triggered by Epstein-Barr Virus Cerebral Infection.

Isr Med Assoc J 2016 Dec;18(12):763-766

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

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December 2016

Assessing Joint Hypermobility in Preschool-Aged Children.

J Pediatr 2016 09 20;176:162-6. Epub 2016 Jun 20.

Pediatric Neurology Unit, Catholic University Rome, Rome, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2016.05.072DOI Listing
September 2016

Sex differences in cerebral palsy on neuromotor outcome: a critical review.

Dev Med Child Neurol 2016 08 21;58(8):809-13. Epub 2016 Apr 21.

Paediatric Neurology Unit, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1111/dmcn.13137DOI Listing
August 2016

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

J Mol Neurosci 2016 Jul 22;59(3):351-9. Epub 2016 Apr 22.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, I.R.C.C.S. Foundation Ca' Granda, Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12031-016-0739-2DOI Listing
July 2016

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Neurology 2016 07 8;87(1):71-6. Epub 2016 Jun 8.

From the Dipartimento di Biochimica Biofisica e Patologia Generale (M.S., G.D.F., A. Torella, A.G., T.G., F.D.V.B., G.E., G.P., V.N.), Seconda Università di Napoli; Telethon Institute of Genetics and Medicine (M.S., G.D.F., A. Torella, M. Mutarelli, V.S.M., A.G., T.G., G.E., V.N.), Pozzuoli; U.O.C. Neurologia Pediatrica e Malattie Muscolari (C.F., C.M., C.B.), IRCCS Istituto Giannina Gaslini, Genova; Centro Dino Ferrari, Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti (F.M., D.R., G.P.C.), and Neuromuscular and Rare Disease Unit, Dipartimento di Neuroscienze (M. Moggio), Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan; Dipartimento di Neuroscienze (M. Fanin, E.P.), Università di Padova; Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche (L.R., L.S.), Università degli Studi di Napoli "Federico II," Napoli; Dipartimento di Medicina Clinica e Sperimentale (G.R., G.S.), Università degli Studi di Pisa; Medicina Molecolare (G.A., F.M.S.), IRCCS Fondazione Stella Maris, Pisa; Dipartimento di Medicina Sperimentale (L. Passamano, P.D., R.P., L. Politano) and Dipartimento di Scienze Mediche, Chirurgiche, Neurologiche, Metaboliche, e dell'Invecchiamento (O.F., S.S., G.D.I.), Seconda Università di Napoli; Dipartimento di Neuroscienze (A.R., M. Mora, L.M.), Istituto Besta, Milano; Don Carlo Gnocchi ONLUS Foundation (G.T.), Milano; Dipartimento di Neuroscienze (A.D., E.B.), IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy; Center for Medical Genetics (S.J., K.C.) and Department of Neurology (J.D.B.), Ghent University Hospital, Belgium; Dipartimento di Neuroscienze (O.M., C.R., S.M., A. Toscano), Università degli Studi di Messina, Italy; Folkhälsan Institute of Genetics (A.E., P.H., B.U.), University of Helsinki, Finland; Section for Neuromuscular Diseases and Neuropathies (M. Filosto), Unit of Clinical Neurology, University Hospital 'Spedali Civili,' Brescia, Italy; Neuromusc

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http://dx.doi.org/10.1212/WNL.0000000000002800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932234PMC
July 2016

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.

Lancet Neurol 2016 07;15(8):882-890

John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Leiden University Medical Center, Leiden, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(16)30035-7DOI Listing
July 2016

Cognitive-behavioral profiles in teenagers with Dravet syndrome.

Brain Dev 2016 Jun 18;38(6):554-62. Epub 2016 Jan 18.

Child Neurology and Psychiatry, Catholic University, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2015.12.014DOI Listing
June 2016

Risk Factors for Neonatal Arterial Ischemic Stroke: The Importance of the Intrapartum Period.

J Pediatr 2016 06 3;173:62-68.e1. Epub 2016 Apr 3.

Department of Pediatrics, Imperial College London, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jpeds.2016.02.064DOI Listing
June 2016

Use of the Hammersmith Infant Neurological Examination in infants with cerebral palsy: a critical review of the literature.

Dev Med Child Neurol 2016 Mar 25;58(3):240-5. Epub 2015 Aug 25.

Paediatric Neurology Unit, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1111/dmcn.12876DOI Listing
March 2016

Disorders of early language development in Dravet syndrome.

Epilepsy Behav 2016 Jan 26;54:30-3. Epub 2015 Nov 26.

Child Neurology and Psychiatry, Catholic University, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2015.10.027DOI Listing
January 2016

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands.

Neuromuscul Disord 2015 Jul 28;25(7):593-602. Epub 2015 Apr 28.

Pediatric Neurology Unit, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2015.04.009DOI Listing
July 2015

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance.

Pediatr Neurol 2015 May 7;52(5):548-51. Epub 2015 Feb 7.

Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.01.018DOI Listing
May 2015

Efficacy of idebenone in Duchenne muscular dystrophy.

Lancet 2015 May 20;385(9979):1704-1706. Epub 2015 Apr 20.

Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S01406736156075
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http://dx.doi.org/10.1016/S0140-6736(15)60758-9DOI Listing
May 2015