Publications by authors named "Chiara Fiorillo"

78Publications

Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant.

Neuropediatrics 2020 May 11. Epub 2020 May 11.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0040-1708539DOI Listing
May 2020

Distal motor neuropathy associated with novel EMILIN1 mutation.

Neurobiol Dis 2020 04 21;137:104757. Epub 2020 Jan 21.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nbd.2020.104757DOI Listing
April 2020

'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.

View Article

Download full-text PDF

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

Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging.

Stem Cell Reports 2019 11 3;13(5):832-846. Epub 2019 Oct 3.

Proteomic of Iron Metabolism Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy; Vita-Salute San Raffaele University, Via Olgettina 58, 20132 Milan, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.stemcr.2019.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6893074PMC
November 2019

Novel mutation in sarcotubular myopathy.

Acta Myol 2019 03 1;38(1):8-12. Epub 2019 Mar 1.

Pediatric Neurology and Neuromuscular Disorders, Istituto G. Gaslini and University of Genoa, Italy.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598407PMC
March 2019

Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review.

Seizure 2019 Aug 27;70:56-58. Epub 2019 Jun 27.

Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genoa, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2019.06.029DOI Listing
August 2019

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.

Neurogenetics 2019 08 2;20(3):165-172. Epub 2019 Jul 2.

Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-019-00582-5DOI Listing
August 2019

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy.

J Neurol Sci 2019 Mar 17;398:75-78. Epub 2019 Jan 17.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Largo Daneo 3, 16132 Genova, Italy; Ospedale Policlinico San Martino IRCCS-Neurological Unit, Largo R. Benzi 10, 16132 Genoa, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2019.01.019DOI 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

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

Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study.

J Child Neurol 2018 06 24;33(7):487-492. Epub 2018 Apr 24.

4 Unit of Rare Diseases of the Nervous System in Childhood, Policlinico-Vittorio-Emanuele University Hospital, University of Catania, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073818767170DOI Listing
June 2018

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

J Neurol 2018 Jun 17;265(6):1419-1425. Epub 2018 Apr 17.

Center of Translational and Experimental Myology, Istituto Giannina Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-018-8826-7DOI Listing
June 2018

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.

Eur J Paediatr Neurol 2018 May 18;22(3):541-543. Epub 2017 Dec 18.

Laboratory of Neurogenetics and Neuroscience, Institute G.Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2017.12.005DOI Listing
May 2018

Detection of early nocturnal hypoventilation in neuromuscular disorders.

J Int Med Res 2018 Mar 6;46(3):1153-1161. Epub 2017 Dec 6.

1 Unit of Pediatric Neurology and Muscle Disease, 18572 Istituto Giannina Gaslini , Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0300060517728857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972237PMC
March 2018

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

Eur J Med Genet 2017 Dec 1;60(12):655-657. Epub 2017 Sep 1.

Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212173054
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2017.08.018DOI Listing
December 2017

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

JIMD Rep 2018 30;38:23-31. Epub 2017 Apr 30.

Center of Myology and Neurodegenerative Disorders, Department of Neuroscience and Rehabilitation, Istituto Giannina Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2017_25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874214PMC
April 2017

Respiratory pattern in a FSDH paediatric population.

Respir Med 2017 05 29;126:132. Epub 2017 Mar 29.

Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy; Department of Pediatrics, University of Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.rmed.2017.03.023DOI Listing
May 2017

Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings.

J Neurol 2017 Mar 7;264(3):597-599. Epub 2017 Feb 7.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-017-8409-zDOI Listing
March 2017

Respiratory pattern in a FSHD pediatric population.

Respir Med 2016 10 22;119:78-80. Epub 2016 Aug 22.

Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy; Department of Pediatrics, University of Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.rmed.2016.08.014DOI Listing
October 2016

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan.

Biochem Biophys Res Commun 2016 08 10;477(1):137-143. Epub 2016 Jun 10.

Molecular Medicine, IRCCS Stella Maris, Via dei Giacinti 2, 56128, Pisa, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2016.06.033DOI Listing
August 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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.

Neuromuscul Disord 2016 Apr-May;26(4-5):292-9. Epub 2016 Feb 17.

Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Università di Napoli, Napoli, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2016.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862961PMC
January 2017

Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis.

Am J Pathol 2015 Dec 24;185(12):3349-60. Epub 2015 Oct 24.

Center of Myology and Neurodegenerative Disorders, Department of Neuroscience, Istituto Giannina Gaslini, Genova, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajpath.2015.08.010DOI Listing
December 2015

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.

Biochem Biophys Res Commun 2015 Mar 11;458(3):601-604. Epub 2015 Feb 11.

Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genova, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2015.01.157DOI Listing
March 2015

A rare mutation in MYH7 gene occurs with overlapping phenotype.

Biochem Biophys Res Commun 2015 Feb 7;457(3):262-6. Epub 2015 Jan 7.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131 Naples, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2014.12.098DOI Listing
February 2015

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.

Muscle Nerve 2015 Apr 24;51(4):604-8. Epub 2015 Feb 24.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131, Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24467DOI Listing
April 2015

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

Neuromuscul Disord 2013 Dec 1;23(12):1010-5. Epub 2013 Oct 1.

Molecular Medicine and Neuromuscular Lab, IRCCS Stella Maris, Pisa, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2013.09.010DOI Listing
December 2013

Neuromuscular disorders in zebrafish: state of the art and future perspectives.

Neuromolecular Med 2013 Jun 13;15(2):405-19. Epub 2013 Apr 13.

Molecular Medicine, and Neuromuscular Lab, IRCCS Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12017-013-8228-zDOI Listing
June 2013

Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy.

J Neurol 2012 May 29;259(5):833-7. Epub 2011 Sep 29.

Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini, 5, 80131, Naples, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00415-011-6255-y
Publisher Site
http://dx.doi.org/10.1007/s00415-011-6255-yDOI Listing
May 2012

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.

Biochem Biophys Res Commun 2011 Sep 29;412(4):518-21. Epub 2011 Jun 29.

Unit of Muscular and Neurodegenerative Disease, IRCCS G. Gaslini Institute, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2011.06.155DOI Listing
September 2011

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.

Neurol Res 2011 Jan 31;33(1):24-32. Epub 2010 Aug 31.

Department of Neurosciences, University of Padova, Venetian Institute of Molecular Medicine, Padova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1179/016164110X12767786356390DOI Listing
January 2011

Is idiopathic intracranial hypertension without papilledema a risk factor for migraine progression?

Neurol Sci 2010 Aug 25;31(4):411-5. Epub 2010 Feb 25.

Headache Centre, Department of Neurological Sciences, University of Naples "Federico II", via Pansini, 5, 80131, Naples, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s10072-010-0229
Web Search
http://link.springer.com/10.1007/s10072-010-0229-1
Publisher Site
http://dx.doi.org/10.1007/s10072-010-0229-1DOI Listing
August 2010

Perioral skin biopsy to study skeletal muscle protein expression.

Muscle Nerve 2010 Mar;41(3):392-8

Department of Neurological Sciences, University Federico II, Via Sergio Pansini 5, 80131 Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.21506DOI Listing
March 2010

Cranial neuralgias: from physiopathology to pharmacological treatment.

Neurol Sci 2008 May;29 Suppl 1:S69-78

Department of Neurological Sciences, University Federico II of Naples, Via Pansini 5, 80131 Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-008-0892-7DOI Listing
May 2008

Early detection of biventricular involvement in myotonic dystrophy by tissue Doppler.

Int J Cardiol 2007 May 12;118(2):227-32. Epub 2006 Oct 12.

Divisione di Cardioangiologia con UTIC, Dipartimento di Medicina e Clinica Sperimentale, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijcard.2006.06.056DOI Listing
May 2007

Acetazolamide efficacy and tolerability in migraine with aura: a pilot study.

Headache 2005 Apr;45(4):385-6

Headache Center, Department of Neurological Sciences, University Federico II of Naples, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/j.1526-4610.2005.05077_3.x
Publisher Site
http://dx.doi.org/10.1111/j.1526-4610.2005.05077_3.xDOI Listing
April 2005

A cluster headache family with possible autosomal recessive inheritance.

Neurology 2003 Aug;61(4):578-9

Dipartimento di Scienze Neurologiche, University of Naples Federico II, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/01.wnl.0000078698.05379.ffDOI Listing
August 2003