Publications by authors named "Filippo Maria Santorelli"

100Publications

Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations.

Ann Clin Transl Neurol 2020 Nov 21;7(11):2326-2331. Epub 2020 Oct 21.

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

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http://dx.doi.org/10.1002/acn3.51221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7664249PMC
November 2020

Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study.

J Pers Med 2020 Oct 9;10(4). Epub 2020 Oct 9.

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, Calambrone, 56128 Pisa, Italy.

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http://dx.doi.org/10.3390/jpm10040160DOI Listing
October 2020

New Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy.

Mov Disord Clin Pract 2020 Aug 7;7(6):684-687. Epub 2020 Jul 7.

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

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http://dx.doi.org/10.1002/mdc3.12991DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396852PMC
August 2020

A new paraplegin mutation in a patient with primary progressive multiple sclerosis.

Mult Scler Relat Disord 2020 Jun 14;44:102302. Epub 2020 Jun 14.

Department of Neurology, AOU Careggi, Largo Palagi 1, Firenze 50139, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.msard.2020.102302DOI Listing
June 2020

Docosahexaenoic acid in ARSACS: observations in two patients.

BMC Neurol 2020 May 28;20(1):215. Epub 2020 May 28.

Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2- 56128 Calambrone-, Pisa, Italy.

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http://dx.doi.org/10.1186/s12883-020-01803-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254735PMC
May 2020

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Ann Hum Genet 2020 09 12;84(5):417-422. Epub 2020 Apr 12.

Clinical Genetics Unit, Ospedale Policlinico IRCCS San Martino, Genoa, Italy.

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http://dx.doi.org/10.1111/ahg.12384DOI Listing
September 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:

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

Customized multigene panels in epilepsy: the best things come in small packages.

Neurogenetics 2020 01 13;21(1):1-18. Epub 2019 Dec 13.

Molecular Medicine and Neurogenetics, Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, 56028, Pisa, Italy.

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http://dx.doi.org/10.1007/s10048-019-00598-xDOI Listing
January 2020

SPG8 mutations in Italian families: clinical data and literature review.

Neurol Sci 2020 Mar 9;41(3):699-703. Epub 2019 Dec 9.

Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.

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http://dx.doi.org/10.1007/s10072-019-04180-zDOI Listing
March 2020

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

Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy.

Sci Rep 2019 08 15;9(1):11878. Epub 2019 Aug 15.

Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, 56128, Italy.

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http://dx.doi.org/10.1038/s41598-019-48047-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6695435PMC
August 2019

Degenerative and acquired sporadic adult onset ataxia.

Neurol Sci 2019 Jul 29;40(7):1335-1342. Epub 2019 Mar 29.

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

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http://dx.doi.org/10.1007/s10072-019-03856-wDOI Listing
July 2019

Clinical and molecular studies in two new cases of ARSACS.

Neurogenetics 2019 03 24;20(1):45-49. Epub 2019 Jan 24.

Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2 Calambrone, 56128, Pisa, Italy.

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http://link.springer.com/10.1007/s10048-019-00564-7
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http://dx.doi.org/10.1007/s10048-019-00564-7DOI Listing
March 2019

SCN11A variant as possible pain generator in sensory axonal neuropathy.

Neurol Sci 2019 Jun 8;40(6):1295-1297. Epub 2019 Jan 8.

Department of Medical, Surgical and Neurological Sciences, Neurology-Neurophysiology Unit, University of Siena, Policlinico Le Scotte. Viale Bracci 1, 53100, Siena, Italy.

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http://link.springer.com/10.1007/s10072-019-3703-4
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http://dx.doi.org/10.1007/s10072-019-3703-4DOI Listing
June 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

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging.

Radiol Case Rep 2019 Mar 5;14(3):309-314. Epub 2018 Dec 5.

Department of Medical, Surgical, Neurological, Metabolic Sciences, and Aging, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Via Sergio Pansini, 80131 Naples, Italy.

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http://dx.doi.org/10.1016/j.radcr.2018.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282458PMC
March 2019

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Eur J Med Genet 2019 Dec 27;62(12):103591. Epub 2018 Nov 27.

Division of Child Neurology and Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.11.025DOI Listing
December 2019

Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy.

Neurol Sci 2018 Nov 21;39(11):1857-1860. Epub 2018 Jul 21.

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

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http://dx.doi.org/10.1007/s10072-018-3504-1DOI Listing
November 2018

Cross-Linked Enzyme Aggregates as Versatile Tool for Enzyme Delivery: Application to Polymeric Nanoparticles.

Bioconjug Chem 2018 07 2;29(7):2225-2231. Epub 2018 Jul 2.

Center of Nanotechnology Innovation@NEST , Istituto Italiano di Tecnologia , 56127 Pisa , Italy.

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http://dx.doi.org/10.1021/acs.bioconjchem.8b00206DOI Listing
July 2018

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

Biochem Biophys Res Commun 2018 06 13;500(2):158-162. Epub 2018 Apr 13.

Department of Medicine, Surgery and Neuroscience, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2018.04.009DOI Listing
June 2018

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.

Eur J Paediatr Neurol 2018 May 5;22(3):563-567. Epub 2018 Jan 5.

Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.12.020DOI Listing
May 2018

EDITORIAL.

Acta Myol 2016 12;35(3):121

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5416738PMC
December 2016

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Eur J Paediatr Neurol 2017 Jul 15;21(4):671-677. Epub 2017 Apr 15.

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

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http://dx.doi.org/10.1016/j.ejpn.2017.04.004DOI Listing
July 2017

Concentric muscle involvement in POLG-related distal myopathy.

Neuromuscul Disord 2017 05 7;27(5):500-501. Epub 2017 Mar 7.

Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966163119
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http://dx.doi.org/10.1016/j.nmd.2017.03.001DOI Listing
May 2017

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

Neuromuscul Disord 2017 May 17;27(5):481-486. Epub 2017 Jan 17.

Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, pz Buonarroti 30, Milan 20145, Italy; Department of Psychology, Catholic University of the Sacred Heart, Largo Gemelli, 1, Milan 20123, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5424884PMC
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.

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

Be aware of Wolfram syndrome when examining ataxic patients.

J Neurol 2016 Sep 17;263(9):1862-3. Epub 2016 Jun 17.

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

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http://dx.doi.org/10.1007/s00415-016-8199-8DOI Listing
September 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

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:

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

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

J Neurol Sci 2016 Mar 4;362:287-91. Epub 2016 Feb 4.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.

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http://dx.doi.org/10.1016/j.jns.2016.02.007DOI Listing
March 2016

Treatment of SPG5 with cholesterol-lowering drugs.

J Neurol 2015 Dec 14;262(12):2783-5. Epub 2015 Nov 14.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://link.springer.com/content/pdf/10.1007/s00415-015-7971
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http://link.springer.com/10.1007/s00415-015-7971-5
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http://dx.doi.org/10.1007/s00415-015-7971-5DOI Listing
December 2015

Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia.

Res Dev Disabil 2015 Oct-Nov;45-46:168-77. Epub 2015 Aug 6.

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, 56128 Calambrone, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ridd.2015.07.025DOI Listing
August 2016

Temporal lobe connects regression and macrocephaly to autism spectrum disorders.

Eur Child Adolesc Psychiatry 2016 Apr 30;25(4):421-9. Epub 2015 Jul 30.

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2 - Calambrone, 56128, Pisa, Italy.

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http://dx.doi.org/10.1007/s00787-015-0746-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820486PMC
April 2016

Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.

Neurol Sci 2015 Nov 14;36(11):2151-5. Epub 2015 Jul 14.

Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Calambrone-Pisa, Italy.

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http://dx.doi.org/10.1007/s10072-015-2324-9DOI Listing
November 2015

Brain imaging in Kufs disease type B: case reports.

BMC Neurol 2015 Jul 4;15:102. Epub 2015 Jul 4.

Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Corso della Repubblica 79, Latina, Italy.

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http://dx.doi.org/10.1186/s12883-015-0357-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491254PMC
July 2015

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.

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http://dx.doi.org/10.1212/WNL.0000000000001303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351663PMC
March 2015

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Acta Neuropathol Commun 2014 Sep 11;2:100. Epub 2014 Sep 11.

Laboratorio di Genetica Medica, Dipartimento di Biochimica, Biofisica e Patologia generale, Seconda Università degli Studi di Napoli, Napoli, Italy.

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http://dx.doi.org/10.1186/s40478-014-0100-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172906PMC
September 2014

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms.

Exp Neurol 2014 Nov 20;261:518-39. Epub 2014 Jun 20.

Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, Rome, Italy; Dipartimento di Medicina dei Sistemi, Università di Roma "Tor Vergata", Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2014.06.011DOI Listing
November 2014

Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism.

J Neurol 2014 Mar 8;261(3):617-9. Epub 2014 Feb 8.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s00415-014-7253-7DOI Listing
March 2014

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

Neurol Sci 2014 Jan 7;35(1):95-7. Epub 2013 Dec 7.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s10072-013-1592-5DOI Listing
January 2014

Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia.

Int J Neurosci 2014 Apr 27;124(4):261-70. Epub 2013 Sep 27.

1Department of Diagnostic Imaging, Molecular Imaging, Interventional Radiology and Radiotherapy, University Hospital Tor Vergata , Viale Oxford 81, Rome , Italy.

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http://dx.doi.org/10.3109/00207454.2013.836705DOI Listing
April 2014

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

Neurogenetics 2012 Nov 18;13(4):375-86. Epub 2012 Sep 18.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-012-0343-8DOI Listing
November 2012

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.

Neuropediatrics 2012 Aug 22;43(4):201-8. Epub 2012 May 22.

Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy.

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http://dx.doi.org/10.1055/s-0032-1315431DOI Listing
August 2012

Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio).

Biochim Biophys Acta 2012 Jul 23;1817(7):1002-11. Epub 2012 Mar 23.

Department of Basic Medical Sciences, University of Bari, Bari, Italy.

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http://dx.doi.org/10.1016/j.bbabio.2012.03.019DOI Listing
July 2012

New findings in the ataxia of Charlevoix-Saguenay.

J Neurol 2012 May 13;259(5):869-78. Epub 2011 Oct 13.

Service of Neurology, Hospital Universitario Miguel Servet, Avenida Isabel la Católica, 1-3, 50009, Zaragoza, Spain.

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http://dx.doi.org/10.1007/s00415-011-6269-5DOI Listing
May 2012

Is the ataxia of Charlevoix-Saguenay a developmental disease?

Med Hypotheses 2011 Sep 12;77(3):347-52. Epub 2011 Jun 12.

Service of Neurology, Hospital Universitario Miguel Servet, Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.mehy.2011.05.011DOI Listing
September 2011

Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI.

J Neurol 2011 Dec 29;258(12):2240-7. Epub 2011 May 29.

Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s00415-011-6106-xDOI Listing
December 2011

Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

Neurobiol Dis 2011 Jul 31;43(1):239-47. Epub 2011 Mar 31.

Epilepsy, Neurophysiology and Neurogenetics Unit, IRCCS Stella Maris Foundation, Via dei Giacinti 2, 56128 Calambrone, Pisa, Italy.

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http://dx.doi.org/10.1016/j.nbd.2011.03.016DOI Listing
July 2011

Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.

Neuromuscul Disord 2009 Nov 20;19(11):779-83. Epub 2009 Sep 20.

Department of Neuroscience, Institute of Neurology, Catholic University, Largo Agostino Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2009.08.015DOI Listing
November 2009

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

J Neurol Sci 2009 Dec 12;287(1-2):111-8. Epub 2009 Sep 12.

Division of Neurology, Department of Neurosciences, Azienda Ospedaliera G Rummo, 82100 Benevento, Italy.

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http://dx.doi.org/10.1016/j.jns.2009.08.052DOI Listing
December 2009

Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene.

J Cell Biochem 2009 Apr;106(5):878-86

Unidad de Investigacion Medica en Genetica, Centro Medico Nacional, Instituto Mexicano del Seguro Social, Mexico City, Mexico.

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April 2009

Topiramate-associated worsening symptoms in a patient with familial hemiplegic migraine.

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POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

Biochem Biophys Res Commun 2007 Nov 25;363(4):1033-7. Epub 2007 Sep 25.

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November 2007

Protein glutathionylation in human central nervous system: potential role in redox regulation of neuronal defense against free radicals.

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Division of Neurology, Department of Neurosciences, Azienda Ospedaliera G. Rummo, Benevento, Italy.

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February 2006