Publications by authors named "Enrico Bertini"

100Publications

Movement disorders in ADAR1 disease: Insights from a comprehensive cohort.

Parkinsonism Relat Disord 2020 Aug 30;79:100-104. Epub 2020 Aug 30.

Department of Systems Medicine, University of Roma Tor Vergata, Rome, Italy; Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.08.039DOI Listing
August 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

The clinical, histologic, and genotypic spectrum of -related myopathy: A case series.

Neurology 2020 Sep 13;95(11):e1512-e1527. Epub 2020 Aug 13.

From the Basic and Translational Myology Lab (R.N.V.-Q., V.G., A.F.), UMR8251, Université de Paris/CNRS; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (R.N.V.-Q., B. Eymard, N.B.R., A.F.) and Neuromuscular Morphology Unit (N.B.R., M.F.), Institut de Myologie, Pitié-Salpêtrière Hospital, AP-HP, Paris, France; Department of Paediatric Neurology (M.v.d.H.), Medinzinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany; AP-HP (C.M., P.R.), Centre de Génétique Moléculaire et Chromosomique, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, GH Pitié-Salpêtrière, Paris; Department of Neurology (V.G.), University Hospital of Montpellier, France; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Bambino Gesu' Children's Research Hospital, Rome, Italy; Departamento de Neurología Pediátrica (C.C.), Clínica Las Condes, Santiago, Chile; Paediatrics Department (D.C.), Hôpital de Hautepierre, Strasbourg, France; Neuromuscular Unit (J.C.), Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER) (J.C.), ISCIII; Department of Neurology (M.L.C.), Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos; Department of Medicine (M.L.C.), Universidad Complutense de Madrid, Spain; Department of Neurology (M.d.V.), Amsterdam University Medical Centre, Amsterdam Neuroscience, the Netherlands; Department of Pediatric Neurology (I.D.), Necker Enfants Malades Hospital, Paris Descartes University, France; Department of Child Neurology (N.G.), University Hospitals Leuven, Belgium; Department of Pediatric Neurology (A.K.), Center for Chronically Sick Children, Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Germany; Department of Neuropediatrics (E.L.), CHRU de Tours, Université François Rabelais de Tours, UMR INSERM U1253, Tours, France; Department of Neuropediatrics (J.L.), University Children's Hospital of Basel (UKBB), Switzerland; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (E.M.), Neurology Department, Raymond-Poincaré Hospital, AP-HP, Garches; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (M.M.), Service de Neuropédiatrie, Hôpital Trousseau, Paris, France; Department of Biomedical and Neuromotor Sciences (L.M.), University of Bologna, Italy; Réanimation Médicale, Physiologie-Explorations Fonctionnelles et Centre d'Investigation Clinique, UMR 1429 (D.O.), INSERM-UMR, 1179, UVSQ (D.O.), and Neuromuscular Unit, Department of Pediatric Neurology, Intensive Care and Rehabilitation, AP-HP, UVSQ Paris Saclay (B. Estournet, S.Q.-R.), Hôpital Raymond Poincaré, Garches, France; Department of Neurology (U.R.), Medizinische Fakultät Carl Gustav Carus Technische Universität Dresden, German; Division of Pediatric Neurology, Department of Pediatrics (M.A.S.), College of Medicine, King Saud University, Riyadh, Saudi Arabia; Friedrich-Baur-Institut (B.S.-W.), Department of Neurology, Ludwig-Maximilians-University of Munich; Department of Pediatric Neurology (M.S.), University of Tübingen, Germany; The John Walton Muscular Dystrophy Research Centre (V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle Hospitals NHS Foundation Trust, UK; Department of Child Neurology (H.T.), Hacettepe University, School of Medicine, Ankara, Turkey; Centre de Compétence Neuromusculaire (J.A.U.), Hôpital Marin, Hendaye, France; Department of Neurology (A.v.d.K.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, the Netherlands; Pediatrics and Adolescent Medicine, Division of Pediatric Neurology (E.W.), University Medical Center Göttingen, Georg-August University Göttingen, Germany; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; and Department of Pediatric Neurology (U.S.), Developmental Neurology and Social Pediatrics, University of Essen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000010327DOI Listing
September 2020

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.

Front Pediatr 2020 24;8:374. Epub 2020 Jul 24.

The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Pediatric Cardiology and Arrhythmia/Syncope Units, Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

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http://dx.doi.org/10.3389/fped.2020.00374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393225PMC
July 2020

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Lancet Diabetes Endocrinol 2020 07;8(7):594-605

Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/S2213-8587(20)30153-4DOI Listing
July 2020

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Int J Mol Sci 2020 May 20;21(10). Epub 2020 May 20.

Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, 00146 Rome, Italy.

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http://dx.doi.org/10.3390/ijms21103603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279391PMC
May 2020

Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement.

Biomolecules 2020 05 1;10(5). Epub 2020 May 1.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

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http://dx.doi.org/10.3390/biom10050702DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277112PMC
May 2020

A wearable video-oculography based evaluation of saccades and respective clinical correlates in patients with early onset ataxia.

J Neurosci Methods 2020 May 20;338:108697. Epub 2020 Mar 20.

Department of Neuroscience - Unit of Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Rome - Via Torre Di Palidoro s.n.c. 00050, Palidoro, Rome, Italy.

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http://dx.doi.org/10.1016/j.jneumeth.2020.108697DOI Listing
May 2020

Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype".

Neuromuscul Disord 2020 03 30;30(3):265-266. Epub 2020 Jan 30.

Istituto di Neurologia, Università Cattolica del Sacro Cuore - sede di Roma, Largo F. Vito 1, Rome, Italy; Dipartimento Scienze dell'invecchiamento, neurologiche, ortopediche e della testa-collo, Area neuroscienze, Unità Operativa Complessa Neurologia, Largo A. Gemelli 8, Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2020.01.003DOI Listing
March 2020

Predictive energy equations for spinal muscular atrophy type I children.

Am J Clin Nutr 2020 05;111(5):983-996

International Center for the Assessment of Nutritional Status (ICANS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy.

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http://dx.doi.org/10.1093/ajcn/nqaa009DOI Listing
May 2020

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.

Int J Mol Sci 2020 Feb 18;21(4). Epub 2020 Feb 18.

Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS 00146 Rome, Italy.

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http://dx.doi.org/10.3390/ijms21041385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073044PMC
February 2020

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic pathogenic variants.

Neurol Genet 2019 Dec 30;5(6):e369. Epub 2019 Oct 30.

Department of Neurology and Neurosurgery (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Department of Pediatrics (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Division of Clinical and Metabolic Genetics and Division of Neurology (L.G., G.Y.), The Hospital for Sick Children, University of Toronto, Toronto, Canada; Department of Child Neurology (F.K.C., M.S.V.D.K., N.I.W.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands; Department of Clinical Genetics (F.K.C., R.M.V.S.), VU University Medical Center, Amsterdam, The Netherlands; Department of Human Genetics (F.K.C.), Center for Biomedical Research, Diponegoro University, Semarang, Indonesia; Department of Pediatrics (L.S.), Faculty of Medicine, University of Szeged, Szeged, Hungary; Child Health and Human Development Program (L.T.T., K.G., G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Division of Medical Genetics, Department of Specialized Medicine (L.T.T., K.G., G.B.), McGill University Health Center, Montreal, Canada; Centre de Référence Neurogénétique (F.H., C.G.), Service de Génétique, CHU Bordeaux, Bordeaux, France; Department of Pediatrics (E.L.F.), Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China; Developmental Neurology Department (S.D.A.), Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; Neuroscience and Neurorehabilitation Department (G.V.), Bambino Gesu Children's Hospital, Rome, Italy; Center for Pediatric Genomic Medicine (I.T.), Children's Mercy Hospitals and Clinics, Kansas City, MO; University of Missouri-Kansas City School of Medicine (I.T.), Kansas City, MO; Department of Pathology and Laboratory Medicine (I.T.), Children's Mercy Hospitals, Kansas City, MO; Department of Pediatrics (D.M.N.), Section of Medical Genetics, Ochsner for Children, New Orleans, LA; GeneDx (R.P.), Gaithersburg, MD; Division of Neurology (K.S.L.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Department of Pediatric Neurology (E.W.), Birmingham Children's Hospital, Birmingham, United Kingdom; Department of Medical Genetics (T.P.), Telemark Hospital, Skien, Norway; Department of Paediatric Neurology (P.F.), St Georges University Hospital NHS Foundation Trust, London, United Kingdom; Clinical Genetics Service (M.M.), St George's University Hospitals NHS Foundation Trust, London, United Kingdom; Clinical Genetics Department (J.R.), Royal Devon and Exeter Hospital NHS Trust, Exeter, United Kingdom; Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Center of Developmental Neurology (H.P.), Frankfurt, Germany; Department of Neurology (B.V.D.W.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Essen, Germany; Department of Clinical Genetics (A.D., C.S.), Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom; Wellcome Sanger Institute (DDD Study), Wellcome Genome Campus, Cambridge, United Kingdom; Department of Pediatrics (N.T.), Division of Child Neurology, University of Texas Health Science Center, Houston, TX, United States of America; Movement Disorders Center and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ, United States of America; Division of Neurology (S.S.), Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India; Division of Neurology (A.V.), Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America; Department of Child Neurology (D.T.), Neurological Institute C. Besta Foundation IRCCS, Milan, Italy; Department of Functional Genomics (M.S.V.D.K.), VU University, Amsterdam, The Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Laboratory of Molecular Medicine, Bambino Gesu Children's Hospital, Rome, Italy; Laboratoire MRGM, INSERM U1211, University Bordeaux, Bordeaux, France; Université de Bordeaux (S.F.), INSERM U1212, CNRS 5320, Bordeaux, France; and Department of Human Genetics (G.B.), McGill University, Montreal, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927361PMC
December 2019

The NRF2 Signaling Network Defines Clinical Biomarkers and Therapeutic Opportunity in Friedreich's Ataxia.

Int J Mol Sci 2020 01 30;21(3). Epub 2020 Jan 30.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

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http://dx.doi.org/10.3390/ijms21030916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7037688PMC
January 2020

Age and sex prevalence estimate of Joubert syndrome in Italy.

Neurology 2020 02 22;94(8):e797-e801. Epub 2020 Jan 22.

From the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000008996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136056PMC
February 2020

One-year outcome of coenzyme Q10 supplementation in ataxia (ARCA2).

Cerebellum Ataxias 2019 16;6:15. Epub 2019 Dec 16.

1Department of Neurosciences, Bambino Gesù Hospital, via della Torre di Palidoro, Fiumicino, Rome, Italy.

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http://dx.doi.org/10.1186/s40673-019-0109-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916514PMC
December 2019

Development of SaraHome: A novel, well-accepted, technology-based assessment tool for patients with ataxia.

Comput Methods Programs Biomed 2020 May 2;188:105257. Epub 2019 Dec 2.

MARlab, Neuroscience and Neurorehabilitation Department, Bambino Gesù Children's Hospital - IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cmpb.2019.105257DOI Listing
May 2020

Evaluation of gait in Duchenne Muscular Dystrophy: Relation of 3D gait analysis to clinical assessment.

Neuromuscul Disord 2019 12 5;29(12):920-929. Epub 2019 Nov 5.

Department of Neuroscience, Unit of Neurorehabilitation, Movement Analysis and Robotics Laboratory, Bambino Gesù Children's Hospital, Via della torre di Palidoro, snc, Fiumicino, Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2019.10.007DOI Listing
December 2019

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.

Clin Genet 2020 03 5;97(3):521-526. Epub 2019 Dec 5.

Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13668DOI Listing
March 2020

Speech and Language Disorders in Friedreich Ataxia: Highlights on Phenomenology, Assessment, and Therapy.

Cerebellum 2020 Feb;19(1):126-130

Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1007/s12311-019-01084-8DOI Listing
February 2020

Systemic activation of Nrf2 pathway in Parkinson's disease.

Mov Disord 2020 01 4;35(1):180-184. Epub 2019 Nov 4.

Neurology, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1002/mds.27878DOI Listing
January 2020

Targeting NRF2 for the Treatment of Friedreich's Ataxia: A Comparison among Drugs.

Int J Mol Sci 2019 Oct 21;20(20). Epub 2019 Oct 21.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

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http://dx.doi.org/10.3390/ijms20205211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829337PMC
October 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

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

Parkinsonism Relat Disord 2019 11 28;68:8-16. Epub 2019 Sep 28.

Departments of Neurosciences and Pediatrics, University of California San Diego, San Diego, CA, USA; Division of Neurology Rady Children's Hospital, San Diego, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.09.015DOI Listing
November 2019

'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene.

Neuromuscul Disord 2019 10 6;29(10):766-770. Epub 2019 Sep 6.

Unit of Muscular and Neurodegenerative Disorders, Department of Neurosciences and Neurorehabilitation, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2019.09.005DOI Listing
October 2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 09 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.

Orphanet J Rare Dis 2019 08 23;14(1):208. Epub 2019 Aug 23.

Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1186/s13023-019-1181-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708179PMC
August 2019

Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.

Clin Genet 2019 08 5;96(2):169-175. Epub 2019 Jun 5.

Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13562
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http://dx.doi.org/10.1111/cge.13562DOI Listing
August 2019

An unusual case of late-infantile onset Krabbe disease with selective bilateral corticospinal tract involvement, peripheral demyelinating neuropathy, and mild phenotype.

Acta Neurol Belg 2019 Dec 7;119(4):619-620. Epub 2019 Feb 7.

Department of Neurosciences, Movement Disorders Clinic, Bambino Gesù Research Hospital, Rome, Italy.

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http://dx.doi.org/10.1007/s13760-019-01087-6DOI Listing
December 2019

Heart rate reduction strategy using ivabradine in end-stage Duchenne cardiomyopathy.

Int J Cardiol 2019 04 17;280:99-103. Epub 2019 Jan 17.

Department of Pediatric Cardiology and Cardiac Surgery, Cardiology Unit, Bambino Gesù Hospital & Research Institute, Rome, Italy.

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http://dx.doi.org/10.1016/j.ijcard.2019.01.052DOI Listing
April 2019

SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.

Eur J Paediatr Neurol 2019 Mar 18;23(2):329-332. Epub 2018 Dec 18.

Unit of Neuromuscolar and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Research Hospital, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183042
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http://dx.doi.org/10.1016/j.ejpn.2018.12.004DOI Listing
March 2019

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.

Parkinsonism Relat Disord 2019 04 7;61:4-6. Epub 2018 Dec 7.

Department of Neuroscience, Movement Disorders Clinic, Bambino Gesù Children's Hospital, Viale San Paolo 15, 00146, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.12.001DOI Listing
April 2019

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Am J Med Genet A 2019 02 18;179(2):317-321. Epub 2018 Dec 18.

Division of Neuromuscular and Neurodegenerative Disorders, IRCCS-Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61006DOI Listing
February 2019

Italian recommendations for diagnosis and management of congenital myasthenic syndromes.

Neurol Sci 2019 Mar 15;40(3):457-468. Epub 2018 Dec 15.

Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Via Celoria 11, 20133, Milan, Italy.

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http://link.springer.com/10.1007/s10072-018-3682-x
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http://dx.doi.org/10.1007/s10072-018-3682-xDOI Listing
March 2019

RuleMatrix: Visualizing and Understanding Classifiers with Rules.

IEEE Trans Vis Comput Graph 2018 Aug 20. Epub 2018 Aug 20.

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http://dx.doi.org/10.1109/TVCG.2018.2864812DOI 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

Corrigendum to "Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia" [Clin. Neurol. Neurosurg. 168 (May) (2018) 60-63].

Clin Neurol Neurosurg 2018 Sep 30;172:190. Epub 2018 Jun 30.

Center for Experimental Neurological Therapies, Sant'Andrea Hospital, Neurosciences, Mental Health, and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2018.06.025DOI Listing
September 2018

Nonprogressive congenital ataxias.

Handb Clin Neurol 2018 ;155:91-103

Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1016/B978-0-444-64189-2.00006-8DOI Listing
October 2018

X-linked ataxias.

Handb Clin Neurol 2018 ;155:175-189

Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/B978-0-444-64189-2.00011-1DOI Listing
October 2018

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.

Clin Neurol Neurosurg 2018 05 3;168:60-63. Epub 2018 Mar 3.

Center for Experimental Neurological Therapies, Sant'Andrea Hospital, Neurosciences, Mental Health, and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2018.02.042DOI Listing
May 2018

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.

Cerebellum 2018 Aug;17(4):499-503

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1007/s12311-018-0924-7DOI Listing
August 2018

Serum uric acid in Friedreich Ataxia.

Clin Biochem 2018 Apr 2;54:139-141. Epub 2018 Feb 2.

Department of Neurosciences and Neurorehabilitation, IRCCS Bambino Gesù Children Hospital, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S00099120173113
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http://dx.doi.org/10.1016/j.clinbiochem.2018.01.022DOI Listing
April 2018

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

Cerebellum 2018 Aug;17(4):489-493

Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s12311-018-0920-yDOI Listing
August 2018

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

Brain Dev 2018 May 1;40(5):433-438. Epub 2018 Feb 1.

Dept. of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.01.002DOI Listing
May 2018