Publications by authors named "Marika Pane"

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.

View Article and Find Full Text PDF
November 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.

View Article and Find Full Text PDF
June 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:

View Article and Find Full Text PDF
September 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.

View Article and Find Full Text PDF
March 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

View Article and Find Full Text PDF
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:

View Article and Find Full Text PDF
December 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.

View Article and Find Full Text PDF
May 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.

View Article and Find Full Text PDF
September 2019

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.

View Article and Find Full Text PDF
April 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:

View Article and Find Full Text PDF
October 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.

View Article and Find Full Text PDF
August 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:

View Article and Find Full Text PDF
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:

View Article and Find Full Text PDF
January 2018

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:

View Article and Find Full Text PDF
October 2017

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.

View Article and Find Full Text PDF
July 2016

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials.

J Neurol Neurosurg Psychiatry 2016 Feb 2;87(2):149-55. Epub 2015 Mar 2.

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

View Article and Find Full Text PDF
February 2016

Prevalence of congenital muscular dystrophy in Italy: a population study.

Neurology 2015 Mar 4;84(9):904-11. Epub 2015 Feb 4.

From the Departments of Paediatrics and Neurology (A.G., F.B., G.T., M. Monforte, E.R., M.P., E.M.), Catholic University, Rome; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., G.T., E.B.), Department of Neurosciences, Bambino Gesù Children's Hospital, Rome; Pediatric Neurology and Neuromuscular Disease and Immunology Unit (I.M., M. Mora, L.M.), Istituto Neurologico Besta, Milan; Department of Neurosciences, Psychiatry and Anaesthesiology (S.M.), University of Messina; Neuromuscular Disease Unit (C.B., C.M.), G. Gaslini Institute, Genoa; Department of Neurosciences (E.P.), University of Padua, Italy; Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit (G.A., R.B., F.M.S.), Stella Maris Institute, Pisa; Department of Neurological Sciences (F. Magri, G.P.C.), IRCCS Ospedale Maggiore Policlinico, University of Milan; Child Neurology and Psychiatry Unit (A.B.), IRCCS C. Mondino Foundation; Neuromuscular and Rare Diseases Unit (M. Moggio), IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Milano; Child Neurology and Psychiatry Unit (A.P.), IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna; Cardiomiologia e Genetica Medica (R.P., L.P.), Dipartimento di Medicina Sperimentale Seconda Università di Napoli; Neuromuscular Center (T.M.), S.G. Battista Hospital, University of Turin; Centro Nemo (K.G.), Milan; Neuromuscular Unit (M.V.), Nigrisoli Hospital, Bologna; Section of Medical Genetics (F.G., A.F.), Department of Experimental and Diagnostic Medicine, Ferrara, Italy; and Dubowitz Neuromuscular Centre (F. Muntoni), UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, UK.

View Article and Find Full Text PDF
March 2015

Upper limb module in non-ambulant patients with spinal muscular atrophy: 12 month changes.

Neuromuscul Disord 2015 Mar 22;25(3):212-5. Epub 2014 Nov 22.

Paediatric Neurology Unit, Catholic University, Rome, Italy. Electronic address:

View Article and Find Full Text PDF
March 2015

Developmental lag of visuospatial attention in Duchenne muscular dystrophy.

Res Dev Disabil 2015 01 14;36C:55-61. Epub 2014 Oct 14.

Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

View Article and Find Full Text PDF
January 2015

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

Neurology 2014 Oct 1;83(18):1634-44. Epub 2014 Oct 1.

From the Department of Neurology IV (L. Maggi, G.B., D.K., P.B., L.C., R.M., L. Morandi), Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., L.T., E.B.), Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome; Child Neurology Unit (A.P.), IRCCS Institute of Neurological Sciences, Bologna; Department of Paediatric Neurology (S. Sivo, M.P., E.M.), Catholic University, Rome; Department of Clinical and Experimental Medicine (G.R., G.S.), Section of Neurology, University of Pisa; Department of Neuroscience Rita Levi Montalcini (L.V., T.M.), University of Torino; Cardiomyology and Medical Genetics (P.D., L.P.), Second Naples University; Arrhythmia Unit and Electrophysiology Laboratories (S. Sala), Institute of Experimental Neurology (Inspe) and Department of Neurology (M.S., S.C.P.) and Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics (M.F.), San Raffaele Scientific Institute, Milan; Vita-Salute San Raffaele University (M.F.), Milan; Laboratory of Molecular Biology (M.F., S.B.), Diagnostica e Ricerca San Raffaele, Milan; Department of Neurosciences (E.P.), University of Padova, Padua; Department of Neurosciences (A.T., C.R.), University of Messina; National Research Council of Italy (G.L.), Institute of Molecular Genetics Unit of Bologna and Laboratory of Musculoskeletal Cell Biology IOR, Bologna; and Department of Public Health, Clinical and Molecular Medicine (N.C.), University of Cagliari, Italy.

View Article and Find Full Text PDF
October 2014

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L.

Neuromuscul Disord 2014 Dec 9;24(12):1118-9. Epub 2014 Jul 9.

Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland; Neurology Department, Vaasa Central Hospital, Vaasa, Finland.

View Article and Find Full Text PDF
December 2014

Muscle MRI: out of the tunnel.

Neuromuscul Disord 2011 Jul 13;21(7):501-2. Epub 2011 May 13.

Pediatric Neurology Unit, Catholic University, Rome, Italy.

View Article and Find Full Text PDF
July 2011

Daily salbutamol in young patients with SMA type II.

Neuromuscul Disord 2008 Jul 24;18(7):536-40. Epub 2008 Jun 24.

Department of Paediatric Neurology, Catholic University, Policlinico Gemelli Largo Gemelli, 00168 Rome, Italy.

View Article and Find Full Text PDF
July 2008

Current methodological issues in the study of children with inherited neuromuscular disorders.

Dev Med Child Neurol 2008 Jun 21;50(6):417-21. Epub 2008 Apr 21.

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

View Article and Find Full Text PDF
June 2008