Enrico Bertini

Enrico Bertini

UNVERIFIED PROFILE

Are you Enrico Bertini?   Register this Author

Register author
Enrico Bertini

Enrico Bertini

Publications by authors named "Enrico Bertini"

Are you Enrico Bertini?   Register this Author

100Publications

3019Reads

11Profile Views

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.

View Article

Download full-text PDF

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

Systemic activation of Nrf2 pathway in Parkinson's disease.

Mov Disord 2019 Nov 4. Epub 2019 Nov 4.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.27878DOI Listing
November 2019

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

Cerebellum 2019 Nov 7. Epub 2019 Nov 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12311-019-01084-8DOI Listing
November 2019

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

Clin Genet 2019 Nov 8. Epub 2019 Nov 8.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13668DOI Listing
November 2019

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

Neuromuscul Disord 2019 Oct 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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms20205211DOI Listing
October 2019

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

Am J Hum Genet 2019 Sep 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:

View Article

Download full-text PDF

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

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

Parkinsonism Relat Disord 2019 Sep 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:

View Article

Download full-text PDF

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

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

Clin Genet 2019 Aug 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.

View Article

Download full-text PDF

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

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

Orphanet J Rare Dis 2019 Aug 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

X-linked ataxias.

Handb Clin Neurol 2018 ;155:175-189

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

View Article

Download full-text PDF

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

Nonprogressive congenital ataxias.

Handb Clin Neurol 2018 ;155:91-103

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12311-018-0924-7DOI 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.

View Article

Download full-text PDF

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

RuleMatrix: Visualizing and Understanding Classifiers with Rules.

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clineuro.2018.02.042DOI 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.

Eur J Hum Genet 2018 03 22;26(3):367-373. Epub 2018 Jan 22.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli", Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-017-0003-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839054PMC
March 2018

Taking Word Clouds Apart: An Empirical Investigation of the Design Space for Keyword Summaries.

IEEE Trans Vis Comput Graph 2018 01 29;24(1):657-666. Epub 2017 Aug 29.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1109/TVCG.2017.2746018DOI Listing
January 2018

[Clinical and molecular study in a family with cleidocranial dysplasia].

Arch Argent Pediatr 2017 Dec;115(6):e440-e444

Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5546/aap.2017.e440DOI Listing
December 2017

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.

View Article

Download full-text PDF

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

Identifying the dynamics of actin and tubulin polymerization in iPSCs and in iPSC-derived neurons.

Oncotarget 2017 Dec 15;8(67):111096-111109. Epub 2017 Nov 15.

Department of Neuroscience, Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Bambino Gesủ Children's Research Hospital, IRCCS, Rome 00146, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18632/oncotarget.22571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762308PMC
December 2017

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

Eur J Paediatr Neurol 2017 Nov 22;21(6):873-883. Epub 2017 Jul 22.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2017.07.009DOI Listing
November 2017

The Potential of iPSCs for the Treatment of Premature Aging Disorders.

Int J Mol Sci 2017 Nov 7;18(11). Epub 2017 Nov 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms18112350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5713319PMC
November 2017

founder mutation in the Roma population causes recessive variant of H-ABC.

Neurology 2017 Oct 20;89(17):1821-1828. Epub 2017 Sep 20.

From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada.

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000004578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664304PMC
October 2017

Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia.

Int J Mol Sci 2017 Oct 18;18(10). Epub 2017 Oct 18.

Unit of Neuromuscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Children's Hospital, Viale San Paolo 15, 00146 Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms18102173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666854PMC
October 2017

Senescence-associated ultrastructural features of long-term cultures of induced pluripotent stem cells (iPSCs).

Aging (Albany NY) 2017 10;9(10):2209-2222

Department of Neuroscience, Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome 00146, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18632/aging.101309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680563PMC
October 2017

Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.

Neuromuscul Disord 2017 Sep 24;27(9):836-842. Epub 2017 May 24.

Department of Pediatrics, University Hospital Cologne, Kerpener Str. 62, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.05.014DOI Listing
September 2017

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Gene 2017 Sep 8;628:141-145. Epub 2017 Jul 8.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2017.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607352PMC
September 2017

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.

Hum Mol Genet 2017 07;26(14):2781-2790

Unit of Muscular and Neurodegenerative Diseases, Children's Hospital and Research Institute Bambino Gesú, 00146 Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddx173DOI Listing
July 2017

Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.

J Neurol Sci 2017 07 10;378:210-212. Epub 2017 May 10.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2017.05.014DOI Listing
July 2017

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.

Brain 2017 06;140(6):e34

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awx083DOI Listing
June 2017

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.

Epilepsia 2017 06 4;58(6):e91-e95. Epub 2017 May 4.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.13772DOI Listing
June 2017

Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging.

Aging (Albany NY) 2017 05;9(5):1453-1469

Department of Neuroscience, Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, 00146, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18632/aging.101248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472744PMC
May 2017

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.

Sci Rep 2017 04 6;7:46271. Epub 2017 Apr 6.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/srep46271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382781PMC
April 2017