Carlo Minetti

Carlo Minetti

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Carlo Minetti

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Distal motor neuropathy associated with novel EMILIN1 mutation.

Neurobiol Dis 2020 Jan 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
January 2020

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Neuropediatrics 2019 08 28;50(4):268-270. Epub 2019 May 28.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1055/s-0039-1688954DOI Listing
August 2019

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

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

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

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

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy.

Eur J Paediatr Neurol 2019 Jul 24;23(4):657-661. Epub 2019 May 24.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2019.05.011DOI Listing
July 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 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.

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

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

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.

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

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

Seizure 2018 Apr 2;57:63-65. Epub 2018 Mar 2.

Laboratory of Neurogenetics and Neuroscience, "G. Gaslini" Institute, Genova, Italy.

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http://dx.doi.org/10.1016/j.seizure.2018.02.011DOI Listing
April 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.

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

Novel mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Neurol Genet 2017 Oct 9;3(5):e179. Epub 2017 Aug 9.

Istituto G. Gaslini (A.A., M.I., F.P., A.O., M.S.V., C.M., M.S., P.S., V.C., F.Z.), Genova; Università degli Studi di Genova (A.A., M.I., C.M., P.S.); Ospedale San Paolo (R.S.), Milano, Italy; Dipartimento di Biochimica Biofisica e Patologia Generale (A.T., V.N.), Seconda Università di Napoli; and Telethon Institute of Genetics and Medicine (A.T., V.N.).

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http://dx.doi.org/10.1212/NXG.0000000000000179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550382PMC
October 2017

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

Seizure 2017 Aug 15;50:80-82. Epub 2017 Jun 15.

Laboratory of Neurogenetics and Neuroscience, "G. Gaslini" Institute, Genova, Italy.

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http://dx.doi.org/10.1016/j.seizure.2017.06.011DOI Listing
August 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.

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

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

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

Antiepileptic Drugs Under Investigation for Treatment of Focal Epilepsy.

Clin Neuropharmacol 2016 Nov/Dec;39(6):281-287

*Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; †Neurology Unit, Sant' Anna Hospital, Como, Italy; and ‡Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1097/WNF.0000000000000180DOI Listing
January 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.

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

White matter involvement in a family with a novel PDGFB mutation.

Neurol Genet 2016 Jun 5;2(3):e77. Epub 2016 May 5.

Dubowitz Neuromuscular Service (R.B.), UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom; Unit of Neuroradiology (M.S.), Laboratorio di Neurogenetica e Neuroscienze (A.R., M.I., F.Z.), "G. Gaslini" Institute, Genova, Italy; Neurology Unit (M.D.S.), E.O. Galliera Hospital, Genova, Italy; Pediatric Neurology and Muscular Diseases Unit (C.M.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; and Department of Advanced Biomedical Sciences (M.C., M.D.B.D.C.), Federico II University, Naples, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867655PMC
June 2016

Safety of Overnight Switch from Brand-Name to Generic Levetiracetam.

Clin Drug Investig 2016 Jan;36(1):87-91

Department of Paediatrics, University of Perugia, Santa Maria della Misericordia Hospital, Perugia, Italy.

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http://dx.doi.org/10.1007/s40261-015-0351-1DOI Listing
January 2016

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:

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

Novel GABRG2 mutations cause familial febrile seizures.

Neurol Genet 2015 Dec 4;1(4):e35. Epub 2015 Nov 4.

Sorbonne Universités (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), UPMC Univ Paris 06, UM 75, ICM; INSERM, U1127 (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), ICM; CNRS (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), UMR 7225, ICM; ICM (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), Paris, France; Department of Neurology (F.P.), University Hospitals of Geneva (HUG), Switzerland; Centre de Reference Épilepsies Rares, Epilepsy Unit (S.W., M.B., V.L., I.A.-G.), and Département de Génétique et de Cytogénétique (E.L.), AP-HP Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova (C.M., P.S.), and Laboratory of Neurogenetics, Department of Neurosciences (F.Z., M.I.), "G. Gaslini" Institute, Genova, Italy; Neurogenetics Group, VIB-Department of Molecular Genetics (K.H.), and Laboratory of Neurogenetics, Institute Born-Bunge (K.H.), University of Antwerp, Belgium; Centre de Reference Épilepsies Rares (O.D., R.N.), Department of Pediatric Neurology, Necker Enfants Malades Hospital, AP-HP, Paris; INSERM (O.D., R.N.), U1129, Necker, Paris, France; and University Paris Descartes (O.D., R.N.), Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811385PMC
December 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

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:

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

Optimization of solid state anaerobic digestion of the OFMSW by digestate recirculation: A new approach.

Waste Manag 2015 Jan 11;35:111-8. Epub 2014 Oct 11.

Gruppo Ricicla - DiSAA, Università degli Studi di Milano, Soil and Env. Lab, Via Celoria, 2, 20133 Milano, Italy; Gruppo Ricicla - DiSAA, Università degli Studi di Milano, Biomass and Bioenergy Lab., Parco Tecnologico Padano, Via Einstein, Loc. C.na Codazza, 26900 Lodi, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0956053X140043
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http://dx.doi.org/10.1016/j.wasman.2014.09.009DOI Listing
January 2015

Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy.

Brain 2013 Oct 25;136(Pt 10):e253. Epub 2013 Jun 25.

1 Paediatric Neurology and Muscular Diseases Unit, Institute "G. Gaslini", Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1093/brain/awt140DOI Listing
October 2013

Magnetic resonance imaging "tigroid pattern" in Alexander disease.

Neuropediatrics 2013 Jun 19;44(3):174-6. Epub 2012 Dec 19.

Department of Neuroscience, Istituto G Gaslini, Genova, Italy.

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http://dx.doi.org/10.1055/s-0032-1329910DOI Listing
June 2013

'Autoimmune epilepsy' or exasperated search for the etiology of seizures of unknown origin?

Epilepsy Behav 2012 Nov 2;25(3):440-1. Epub 2012 Oct 2.

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http://dx.doi.org/10.1016/j.yebeh.2012.08.021DOI Listing
November 2012

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

Eur J Hum Genet 2011 Sep 27;19(9):974-80. Epub 2011 Apr 27.

Dipartimento di Patologia Generale, Telethon Institute of Genetics and Medicine (TIGEM), Seconda Università degli Studi di Napoli,S. Andrea delle Dame, via L. De Crecchio 7, Naples, Italy.

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http://www.nature.com/articles/ejhg201170
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http://dx.doi.org/10.1038/ejhg.2011.70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179367PMC
September 2011

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.

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

Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy.

Epilepsia 2011 Jul 22;52(7):1245-50. Epub 2011 Mar 22.

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

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http://doi.wiley.com/10.1111/j.1528-1167.2011.03017.x
Publisher Site
http://dx.doi.org/10.1111/j.1528-1167.2011.03017.xDOI Listing
July 2011

Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents.

J Child Neurol 2011 Jun 11;26(6):707-13. Epub 2011 Apr 11.

Allergy and Respiratory Disease, Department of Internal Medicine, University of Genoa, Genoa, Italy.

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http://dx.doi.org/10.1177/0883073810389043DOI Listing
June 2011

Epilepsy: old drugs do the trick in childhood absence epilepsy.

Nat Rev Neurol 2010 Aug;6(8):420-1

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http://dx.doi.org/10.1038/nrneurol.2010.106DOI Listing
August 2010

The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.

Neurol Sci 2010 Jun 19;31(3):377-80. Epub 2010 Mar 19.

Section of Neurology and Neurological Rehabilitation, Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Via de Toni 5, 16132, Genoa, Italy.

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http://dx.doi.org/10.1007/s10072-010-0248-yDOI Listing
June 2010

Willful modulation of brain activity in disorders of consciousness.

N Engl J Med 2010 May;362(20):1937; author reply 1937-8

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May 2010

Caveolinopathies: from the biology of caveolin-3 to human diseases.

Eur J Hum Genet 2010 Feb 8;18(2):137-45. Epub 2009 Jul 8.

Department of Paediatrics, Muscular and Neurodegenerative Disease Unit, University of Genova, G. Gaslini Institute, Genova, Italy.

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http://dx.doi.org/10.1038/ejhg.2009.103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987183PMC
February 2010

S100B protein and near infrared spectroscopy in preterm and term newborns.

Front Biosci (Elite Ed) 2010 Jan 1;2:159-64. Epub 2010 Jan 1.

Department of Maternal, Fetal and Neonatal Medicine, G Garibaldi Hospital, Catania, Italy.

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http://dx.doi.org/10.2741/e78DOI Listing
January 2010

Chitosan may decrease serum valproate and increase the risk of seizure reappearance.

BMJ 2009 Sep 24;339:b3751. Epub 2009 Sep 24.

Unit of Muscular and Neurodegenerative Diseases, G Gaslini Institute, University of Genova, Genova.

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http://dx.doi.org/10.1136/bmj.b3751DOI Listing
September 2009