Publications by authors named "Claudio Bruno"

99Publications

Comprehensive Phenotyping of Peripheral Blood T Lymphocytes in Healthy Mice.

Cytometry A 2020 Oct 24. Epub 2020 Oct 24.

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

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http://dx.doi.org/10.1002/cyto.a.24246DOI Listing
October 2020

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

Orphanet J Rare Dis 2020 Oct 15;15(1):187. Epub 2020 Oct 15.

Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Pg. Vall d'Hebron 119, 08035, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1186/s13023-020-01455-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7558742PMC
October 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

Gain and loss of abilities in type II SMA: A 12-month natural history study.

Neuromuscul Disord 2020 09 13;30(9):765-771. Epub 2020 Jul 13.

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.2020.07.004DOI Listing
September 2020

eATP/P2X7R Axis: An Orchestrated Pathway Triggering Inflammasome Activation in Muscle Diseases.

Int J Mol Sci 2020 Aug 19;21(17). Epub 2020 Aug 19.

Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.

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http://dx.doi.org/10.3390/ijms21175963DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7504480PMC
August 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

Placenta accreta spectrum: a hysterectomy can be prevented in almost 80% of cases using a resective-reconstructive technique.

J Matern Fetal Neonatal Med 2020 Jan 26:1-8. Epub 2020 Jan 26.

CYMSA Clínica y Maternidad Suizo Argentina, Buenos Aires, Argentina.

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http://dx.doi.org/10.1080/14767058.2020.1716715DOI Listing
January 2020

Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.

Mol Genet Metab 2020 01 21;129(1):26-34. Epub 2019 Nov 21.

Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Hills Road, CB20XY Cambridge, UK; Dipartimento di Scienze Mediche e Chirurgiche, Centro di Ricerca Biomedica Applicata, Università di Bologna, via Massarenti, 11, 40100 Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.11.003DOI Listing
January 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.

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

Anterior cingulate and medial prefrontal cortex response to systematically controlled tonal dissonance during passive music listening.

Hum Brain Mapp 2020 01 11;41(1):46-66. Epub 2019 Sep 11.

Cognition and Consciousness Imaging Group, Division of Anaesthesia, Department of Medicine, University of Cambridge, Cambridge, UK.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/hbm.24786
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http://dx.doi.org/10.1002/hbm.24786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268082PMC
January 2020

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

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.

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

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

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.

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

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.

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

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:

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

Neural mechanisms underlying valence inferences to sound: The role of the right angular gyrus.

Neuropsychologia 2017 Jul 8;102:144-162. Epub 2017 Jun 8.

University of Cambridge, Division of Anaesthesia, Cambridge, UK.

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http://dx.doi.org/10.1016/j.neuropsychologia.2017.05.029DOI Listing
July 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

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

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

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:

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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

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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.

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

The chemosensitizing agent lubeluzole binds calmodulin and inhibits Ca(2+)/calmodulin-dependent kinase II.

Eur J Med Chem 2016 Jun 19;116:36-45. Epub 2016 Mar 19.

Dipartimento di Farmacia - Scienze del Farmaco, Università degli Studi di Bari 'Aldo Moro', via E. Orabona 4, 70126 Bari, Italy.

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http://dx.doi.org/10.1016/j.ejmech.2016.03.045DOI Listing
June 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

Stereoselective Modulation of P-Glycoprotein by Chiral Small Molecules.

ChemMedChem 2016 Jan 10;11(1):93-101. Epub 2015 Nov 10.

Dipartimento di Farmacia-Scienze del Farmaco, Università degli Studi di Bari "Aldo Moro", via E. Orabona n. 4, 70125, Bari, Italy.

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http://dx.doi.org/10.1002/cmdc.201500417DOI 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

Answer to Letter to Editor.

Arq Bras Cardiol 2015 Jun;104(6):508

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June 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

Paternal germline mosaicism in collagen VI related myopathies.

Eur J Paediatr Neurol 2015 Sep 30;19(5):533-6. Epub 2015 Apr 30.

UOL of Medical Genetics, Department of Reproduction and Growth and Department of Medical Science, University-Hospital S'Anna, Ferrara, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.04.002DOI Listing
September 2015

Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?

Neuropediatrics 2015 Apr 16;46(2):104-9. Epub 2015 Feb 16.

Child Neuropsychiatry Unit, Department of Neurosciences and Rehabilitation, Istituto G. Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1055/s-0035-1544185DOI Listing
April 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

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

Bone age assessment with conventional ultrasonography in healthy infants from 1 to 24 months of age.

Pediatr Radiol 2015 Jul 9;45(7):1007-15. Epub 2015 Jan 9.

Fundación Científica del Sur, Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/s00247-014-3253-0DOI Listing
July 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

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:

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

Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.

BMC Med Genet 2013 Oct 7;14:105. Epub 2013 Oct 7.

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCSS Azienda Opedaliera Universitaria San Martino-IST, Largo Daneo 3-16132, Genova, Italy.

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http://dx.doi.org/10.1186/1471-2350-14-105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851930PMC
October 2013

A convenient synthesis of lubeluzole and its enantiomer: evaluation as chemosensitizing agents on human ovarian adenocarcinoma and lung carcinoma cells.

Bioorg Med Chem Lett 2013 Sep 4;23(17):4820-3. Epub 2013 Jul 4.

Dipartimento di Farmacia-Scienze del Farmaco, Università degli Studi di Bari Aldo Moro, via E Orabona 4, 70126 Bari, Italy.

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http://dx.doi.org/10.1016/j.bmcl.2013.06.077DOI Listing
September 2013

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

JAMA Neurol 2013 Sep;70(9):1177-9

Department of Neurology, Columbia University Medical Center, College of Physicians and Surgeons, New York, New York2Human Genetics, Joint PhD Program, Universities of Turin and Bologna, Italy.

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http://dx.doi.org/10.1001/jamaneurol.2013.3197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891824PMC
September 2013

Capillary zone electrophoresis for separation and quantitative determination of mexiletine and its main phase I metabolites.

Drug Metab Lett 2013 Mar;7(1):52-7

Dipartimento di Farmacia- Scienze del Farmaco, Università degli Studi di Bari "Aldo Moro", via Orabona 4, 70126 Bari, Italy.

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http://dx.doi.org/10.2174/18723128112069990011DOI Listing
March 2013