Sabrina Sacconi

Sabrina Sacconi

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Sabrina Sacconi

Publications by authors named "Sabrina Sacconi"

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Bilateral scapulothoracic arthrodesis for facioscapulohumeral muscular dystrophy: function, fusion, and respiratory consequences.

J Shoulder Elbow Surg 2020 Jan 22. Epub 2020 Jan 22.

Department of Orthopaedics, University Institute for Locomotion and Sports, Pasteur 2 Hospital, Nice, France.

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http://dx.doi.org/10.1016/j.jse.2019.10.006DOI Listing
January 2020

FSHD1 and FSHD2 form a disease continuum.

Neurology 2019 05 12;92(19):e2273-e2285. Epub 2019 Apr 12.

From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000007456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537132PMC
May 2019

[E-Health and therapeutic innovation].

Med Sci (Paris) 2019 Mar 3;35 Hors série n° 1:42-45. Epub 2019 Apr 3.

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http://dx.doi.org/10.1051/medsci/2019052DOI Listing
March 2019

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

J Inherit Metab Dis 2018 11 28;41(6):937-946. Epub 2018 Aug 28.

Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Service de Neurologie, CHU Raymond Poincaré, AP-HP, 104 bd Raymond Poincaré, 92380, Garches, France.

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http://dx.doi.org/10.1007/s10545-018-0243-7DOI Listing
November 2018

New variant of necklace fibres display peculiar lysosomal structures and mitophagy.

Neuromuscul Disord 2018 10 2;28(10):846-856. Epub 2018 Jul 2.

Department of Neuropathology, Charité - Universitätsmedizin Berlin, Chariteplatz 1, 10117 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.06.010DOI Listing
October 2018

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Neurology 2018 08 6;91(6):e562-e570. Epub 2018 Jul 6.

From the Department of Neurology (K.M., N.C.V., B.G.M.v.E., C.G.C.H.), Radboud University Medical Center, Nijmegen; Departments of Human Genetics (R.J.L.F.L., P.J.v.d.V., M.L.v.d.B., S.M.v.d.M.), Clinical Genetics (M.K.), and Neurology (U.A.B.), Leiden University Medical Center, Leiden, the Netherlands; Department of Pediatrics (J.M.G.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Medical Genetics (A.E.L.), MassGeneral Hospital for Children, Boston, MA; Center for Genomic Medicine and Department of Neurology (H.B.), Massachusetts General Hospital, Boston; Department of Pathology (S.A.M.), University of Iowa Hospitals and Clinics, Iowa City; The John Walton Muscular Dystrophy Research Centre (K.J., T.E., A.T., V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Neuromuscular Consult Unit (S.K.G.), Bilbo-Basurtu Erakunde Sanitario Integratua, Organización Sanitaria Integrada Bilbao-Basurto, Spain; Centre de Référence des Maladies Neuromusculaires (S.S.), Nice, France; Department of Neurology (R.T.), University of Rochester Medical Center, NY; Division of Human Biology (S.J.T.), Fred Hutchinson Cancer Research Center, Seattle, WA; and National Institute of Environmental Health Sciences (N.D.S.), Research Triangle Park, NC.

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http://dx.doi.org/10.1212/WNL.0000000000005958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105048PMC
August 2018

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.

Am J Med Genet A 2018 08 28;176(8):1760-1763. Epub 2018 Jul 28.

Peripheral Nervous System, Muscle and ALS Department, Nice University Hospital, Université Côte d'Azur, Nice, France.

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http://doi.wiley.com/10.1002/ajmg.a.38843
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http://dx.doi.org/10.1002/ajmg.a.38843DOI Listing
August 2018

Miller Fisher syndrome, Bickerstaff brainstem encephalitis and Guillain-Barré syndrome overlap with persistent non-demyelinating conduction blocks: a case report.

BMC Neurol 2018 Jul 21;18(1):101. Epub 2018 Jul 21.

Department of Neuroscience, Imaging and Clinical Sciences, University "G. d'Annunzio", Chieti-Pescara, Italy.

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http://dx.doi.org/10.1186/s12883-018-1104-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054855PMC
July 2018

COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.

Biochim Biophys Acta Bioenerg 2018 Apr 3;1859(4):244-252. Epub 2018 Feb 3.

Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Via Giustiniani 3 and IRP Città della Speranza, Corso Stati Uniti 4, Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2018.01.004DOI Listing
April 2018

The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version.

Muscle Nerve 2017 Dec 21;56(6):1085-1091. Epub 2017 Mar 21.

Centre Hospitalier Universitaire de Reims, Hôpital Sébastopol, Service de Médecine Physique et Réadaptation, Centre de Référence des Maladies Neuromusculaires, EA 3797, 48, rue de Sébastopol, 51092, Reims Cedex, France.

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http://dx.doi.org/10.1002/mus.25598DOI Listing
December 2017

Bent spine syndrome as the initial symptom of late-onset Pompe disease.

Muscle Nerve 2017 07 30;56(1):167-170. Epub 2016 Nov 30.

Rhumatologie, Hôpital Roger Salengro, Université de Lille 2, Centre Hospitalier Régional Universitaire de Lille, Lille, France.

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http://dx.doi.org/10.1002/mus.25478DOI Listing
July 2017

Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.

Muscle Nerve 2017 06 26;55(6):919-922. Epub 2017 Mar 26.

Nice Sophia Antipolis University, Institute for Research on Cancer and Aging (IRCAN), CNRS, INSERM, UMR 7284 and U1081, School of Medicine, 28 avenue de Valombrose, 06107, Nice cedex 2, France.

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http://dx.doi.org/10.1002/mus.25262DOI Listing
June 2017

Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients.

Am J Phys Med Rehabil 2017 Apr;96(4):e56-e63

From the Université Côte d'Azur, LAMHESS, Nice, France (A-CMD, MF-M, SSC); Department of Neuroscience, Norwegian University of Science and Technology (NTNU), Trondheim, Norway (A-CMD, KR); Université Côte d'Azur, CHU (JG, PL, VT, MF-M, CD, SS); and Université Côte d'Azur, CNRS, INSERM, IRCAN (CD, SS), Nice, France.

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http://Insights.ovid.com/crossref?an=00002060-201704000-0000
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http://dx.doi.org/10.1097/PHM.0000000000000705DOI Listing
April 2017

Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD).

J Neurol 2017 Mar 24;264(3):589-590. Epub 2017 Jan 24.

Neuromuscular Diseases Centre, Department of Clinical Neurosciences, University Hospital of Nice (CHU), Nice, France.

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http://dx.doi.org/10.1007/s00415-017-8396-0DOI Listing
March 2017

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.

Hum Mol Genet 2016 10 4;25(19):4256-4265. Epub 2016 Aug 4.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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http://dx.doi.org/10.1093/hmg/ddw257DOI 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

Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells.

Stem Cells Dev 2016 Jan 30;25(2):151-9. Epub 2015 Dec 30.

1 UMR7370 CNRS, LP2M, Labex ICST, Faculté de Médecine, University Nice Sophia Antipolis , Nice, France .

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http://dx.doi.org/10.1089/scd.2015.0258DOI Listing
January 2016

CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.

Ann Neurol 2015 Nov 31;78(5):831. Epub 2015 Aug 31.

Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.

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http://dx.doi.org/10.1002/ana.24464DOI Listing
November 2015

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Neuromuscul Disord 2015 Jul 30;25(7):533-41. Epub 2015 Mar 30.

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

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http://dx.doi.org/10.1016/j.nmd.2015.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502439PMC
July 2015

Facioscapulohumeral muscular dystrophy.

Biochim Biophys Acta 2015 Apr 29;1852(4):607-14. Epub 2014 May 29.

Centre de référence des Maladies Neuromusculaires, Hôpital Archet 1, 151, route de Saint Antoine de Ginestière, 06202 Nice, France; CNRS UMR7277, Inserm U1091, iBV - Institute of Biology Valrose, UNS Université Nice Sophia-Antipolis, Faculté de Médecine, 28 Avenue Valombrose, 06189 Nice Cedex, France.

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http://dx.doi.org/10.1016/j.bbadis.2014.05.021DOI Listing
April 2015

Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322-324.

J Neurol Sci 2015 Apr 20;351(1-2):196-197. Epub 2015 Feb 20.

IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X150009
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http://dx.doi.org/10.1016/j.jns.2015.02.025DOI Listing
April 2015

The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis.

Hum Mol Genet 2015 Jan 8;24(2):471-9. Epub 2014 Sep 8.

University Nice Sophia Antipolis, Nice, France Laboratory of Excellence Ion Channel Science and Therapeutics, LP2M, UMR 7370 CNRS, Nice, France Faculté de Médecine, Nice, France

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddu462DOI Listing
January 2015

Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease.

Neuromuscul Disord 2014 Jul 24;24(7):648-50. Epub 2014 Apr 24.

Neuromuscular Diseases Specialized Center, Archet 1 Hospital, CHU Nice, France.

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http://dx.doi.org/10.1016/j.nmd.2014.04.005DOI Listing
July 2014

Long-term mechanical ventilation equipment for neuromuscular patients: meeting the expectations of patients and prescribers.

Respir Care 2014 Jan 13;59(1):97-106. Epub 2013 Jun 13.

Physiologie-Explorations Fonctionnelles, et Le Centre d'Investigation Clinique et d'Innovation Technologique Unité Mixte de Recherche 805, Hôpital Raymond Poincaré, Assistance Publique Hôpitaux de Paris, Garches, France.

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http://dx.doi.org/10.4187/respcare.02229DOI Listing
January 2014

Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size.

Neurology 2013 Mar 27;80(13):1247-50. Epub 2013 Feb 27.

Departments of Neurology, University of Rochester Medical Center, Rochester, NY, USA.

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http://dx.doi.org/10.1212/WNL.0b013e3182897116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3691782PMC
March 2013

A novel CRYAB mutation resulting in multisystemic disease.

Neuromuscul Disord 2012 Jan 14;22(1):66-72. Epub 2011 Sep 14.

Centre de Référence des Maladies Neuromusculaires, Nice Hospital and UMR CNRS6543, Nice University, Nice, France.

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http://dx.doi.org/10.1016/j.nmd.2011.07.004DOI Listing
January 2012

Hierarchization of myogenic and adipogenic progenitors within human skeletal muscle.

Stem Cells 2010 Dec;28(12):2182-94

Institute of Developmental Biology and Cancer, University of Nice Sophia-Antipolis, CNRS, UMR6543, Nice, France.

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http://dx.doi.org/10.1002/stem.537DOI Listing
December 2010

Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.

J Neurol 2010 Oct 18;257(10):1730-3. Epub 2010 Jun 18.

Centre de Référence des maladies Neuromusculaires, Hôpital Archet 1, 151 Route de Saint Antoine de Ginestière, 06202, Nice, France.

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http://dx.doi.org/10.1007/s00415-010-5618-0DOI Listing
October 2010

Neuromuscular electrical stimulation training: a safe and effective treatment for facioscapulohumeral muscular dystrophy patients.

Arch Phys Med Rehabil 2010 May;91(5):697-702

University of Nice-Sophia Antipolis, Laboratory of Human Motricity, Education, and Health, Faculty of Sports Sciences, Nice Cedex, France.

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http://dx.doi.org/10.1016/j.apmr.2010.01.019DOI Listing
May 2010

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.

Neuromuscul Disord 2010 Jan 27;20(1):44-8. Epub 2009 Nov 27.

Centre de référence des Maladies Neuromusculaires, Nice Hospital, CNRS, UMR 6543, Faculté de Médicine, Nice, France.

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http://dx.doi.org/10.1016/j.nmd.2009.10.014DOI Listing
January 2010

Do patients having a decrease in SNAP amplitude during the course of MMN present with a different condition?

J Neurol 2009 Nov 30;256(11):1876-80. Epub 2009 Jul 30.

Centre de référence pour Maladies NeuroMusculaires et SLA, Hôpital Archet 1, CHU de Nice, route saint Antoine de Ginestière, BP3079, 06202 Nice Cedex 3, France.

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http://link.springer.com/10.1007/s00415-009-5217-0
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http://dx.doi.org/10.1007/s00415-009-5217-0DOI Listing
November 2009

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

Hum Mutat 2009 Oct;30(10):1449-59

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/humu.21091DOI Listing
October 2009

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.

J Hum Genet 2009 Jul 17;54(7):419-21. Epub 2009 Apr 17.

Centre de Référence des Maladies Neuromusculaires et CNRS UMR 6543, Faculté de Médécine, Université de Nice, Nice, France.

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http://dx.doi.org/10.1038/jhg.2009.36DOI Listing
July 2009

The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.

PLoS Genet 2009 Feb 27;5(2):e1000394. Epub 2009 Feb 27.

Laboratoire de Biologie Moléculaire de la Cellule, Ecole Normale Supérieure de Lyon, Centre National de la Recherche Scientifique UMR 5239, UCBL1, IFR128, Lyon, France.

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http://dx.doi.org/10.1371/journal.pgen.1000394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2639723PMC
February 2009

hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly.

Biochem Biophys Res Commun 2005 Nov 29;337(3):832-9. Epub 2005 Sep 29.

INSERM U638, Faculté de Médicine, Université de Nice, France.

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http://dx.doi.org/10.1016/j.bbrc.2005.09.127DOI Listing
November 2005

[The possible place of autologus cell therapy in facioscapulohumeral muscular dystrophy].

Bull Acad Natl Med 2005 Apr;189(4):697-713; discussion 713-4

Centre de Reference pour les Maladies Neuromusculaires - CHU de Nice. Groupe Hospitalier l'Archet, BP 3079, 06202 Nice cedex 03 et INSERM U 638.

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April 2005

Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome.

Am J Med Genet A 2004 Jul;128A(2):195-8

Department of Neurology, Columbia University College of Physicians & Surgeons, New York, New York, USA.

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http://dx.doi.org/10.1002/ajmg.a.30073DOI Listing
July 2004

Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation.

J Pediatr Gastroenterol Nutr 2004 Feb;38(2):216-20

Pediatric GI/Nutrition, Long Island College Hospital, Brooklyn, New York 11201, USA.

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http://dx.doi.org/10.1097/00005176-200402000-00022DOI Listing
February 2004

Mutation screening in patients with isolated cytochrome c oxidase deficiency.

Pediatr Res 2003 Feb;53(2):224-30

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.

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http://dx.doi.org/10.1203/01.PDR.0000048100.91730.6ADOI Listing
February 2003

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.

Neuromuscul Disord 2002 Nov;12(9):865-8

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA

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http://dx.doi.org/10.1016/s0960-8966(02)00072-xDOI Listing
November 2002

Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.

Arch Neurol 2002 Jun;59(6):1013-5

Department of Neurology, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1001/archneur.59.6.1013DOI Listing
June 2002

Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations.

Biochem J 2002 Apr;363(Pt 2):321-7

Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, U.S.A.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1222481PMC
http://dx.doi.org/10.1042/0264-6021:3630321DOI Listing
April 2002