Publications by authors named "Salvatore Dimauro"

99Publications

The North American mitochondrial disease registry.

J Transl Genet Genom 2020 28;4:81-90. Epub 2020 Apr 28.

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.20517/jtgg.2020.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7323997PMC
April 2020

Mitochondrial diseases in North America: An analysis of the NAMDC Registry.

Neurol Genet 2020 Apr 2;6(2):e402. Epub 2020 Mar 2.

Department of Neurology (E.B., V.E., S.D., K.E., X.Q.R., M.H.), Columbia University Medical Center, New York; Department of Biostatistics (Y.L., V.C., J.K., J. Grier, R.B., J.L.P.T.), Mailman School of Public Health, Columbia University, New York; Radboudumc (R.S.), Nijmegen, The Netherlands; Department of Pediatrics (B.H.C.), Northeast Ohio Medical University and Akron Children's Hospital; Genetics Unit (A.K.), Massachusetts General Hospital, Boston; Department of Pediatrics (G.D.V.), State University of New York at Buffalo; Departments of Neurosciences and Pediatrics (R.H.), University of California at San Diego; Department of Pediatrics (J.L.K.V.H., A.L.), University of Colorado School of Medicine, Aurora; Department of Molecular and Human Genetics (F.S.), Baylor College of Medicine, Houston, TX; Texas Children's Hospital (F.S.), Houston; Joint BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; Department of Neurology (S.P.), Cleveland Clinic, OH; Departments of Genetics and Genome Sciences and Pediatrics (J.K.B., S.D.D.), and Center for Human Genetics, University Hospitals Cleveland Medical Center, Case Western Reserve University, OH; Departments of Neurology and Clinical Genomics (R.H.G.), Mayo Clinic, Rochester, MN; Department of Neurology (R.P.S.), University of Washington, Seattle Children's Hospital; Department of Pediatrics (G.M.E.), Stanford University, Palo Alto, CA; Department of Medicine (P.W.S.), University of Florida at Gainesville; Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai (J. Ganesh), New York; Mitochondrial Medicine Frontier Program (Z.Z.-C., M.J.F., A.C.G.), Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; University of Pennsylvania Perelman School of Medicine (Z.Z.-C.), Philadelphia; Department of Neurology (M.T.), McMasters University, Toronto, Ontario, Canada; Department of Neurology (A.G.), Children's National Health Network, Washington, DC; Office of Dietary Supplements (K.C.), National Institutes of Health, Bethesda, MD; and Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.K.), National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164977PMC
April 2020

A Brief History of Mitochondrial Pathologies.

Int J Mol Sci 2019 Nov 12;20(22). Epub 2019 Nov 12.

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.3390/ijms20225643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888695PMC
November 2019

Macrophage derived TNFα promotes hepatic reprogramming to Warburg-like metabolism.

J Mol Med (Berl) 2019 09 3;97(9):1231-1243. Epub 2019 May 3.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Room 4A62, Bethesda, MD, 20892, USA.

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http://link.springer.com/10.1007/s00109-019-01786-w
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http://dx.doi.org/10.1007/s00109-019-01786-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715514PMC
September 2019

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.

Neurology 2018 09 15;91(11):e1077-e1082. Epub 2018 Aug 15.

From the Department of Neurology (J.V.), University of Copenhagen, Denmark; Department of Neurology (O.A., S.D.), Columbia University, New York, NY; Department of Neurology (J.A.), St. Olavs Hospital; NTNU (J.A.), Trondheim, Norway; Department of Pediatrics (S.G.K.), University of Arkansas School for Medical Sciences, Little Rock; Department of Molecular and Human Genetics (C.A.B.), Baylor College of Medicine, Houston, TX; Neuromuscular Center (R.G.H.), Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital; and Department of Neurology and Neurotherapeutics (R.G.H.), University of Texas Southwestern Medical Center, Dallas.

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http://dx.doi.org/10.1212/WNL.0000000000006165DOI Listing
September 2018

Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias.

Curr Neuropharmacol 2019 ;17(1):21-32

Department of Neurology, Columbia University Medical Center, New York, NY, 10032, United States.

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http://dx.doi.org/10.2174/1570159X15666171109125643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341493PMC
April 2019

A De Novo Mutation in Causes Generalized Dystonia in 2 Unrelated Children.

Child Neurol Open 2016 Jan-Dec;3:2329048X15627937. Epub 2016 Apr 4.

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

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http://dx.doi.org/10.1177/2329048X15627937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417276PMC
April 2016

Mitochondrial diseases.

Nat Rev Dis Primers 2016 10 20;2:16080. Epub 2016 Oct 20.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School Framlington Place, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1038/nrdp.2016.80DOI Listing
October 2016

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.

Eur J Med Genet 2016 Oct 31;59(10):540-5. Epub 2016 Aug 31.

Department of Pathology and Cell Biology, Columbia University, 630 W, 168th Street, New York, NY 10032, USA; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University Medical Center, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045816PMC
http://dx.doi.org/10.1016/j.ejmg.2016.08.012DOI Listing
October 2016

CoQ Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.

JIMD Rep 2016 29;29:47-52. Epub 2015 Nov 29.

Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, 710 West 168th Street, New York, NY, 10032, USA.

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http://link.springer.com/content/pdf/10.1007%2F8904_2015_493
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http://link.springer.com/10.1007/8904_2015_493
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http://dx.doi.org/10.1007/8904_2015_493DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059199PMC
November 2015

Metabolic Myoglobinuria.

Curr Neurol Neurosci Rep 2015 Oct;15(10):69

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

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http://dx.doi.org/10.1007/s11910-015-0590-9DOI Listing
October 2015

A myopathy with unusual features caused by PNPLA2 gene mutations.

Muscle Nerve 2015 Apr 28;51(4):609-13. Epub 2015 Feb 28.

Division of Neurology, San Filippo Neri Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/mus.24477DOI Listing
April 2015

A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Ann Neurol 2014 Dec 31;76(6):891-8. Epub 2014 Oct 31.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden; Myology Institute, Neuromuscular Morphology Unit, Pierre and Marie Curie University, Pitié-Salpêtrière University Hospital Group, Sorbonne Universities, Paris, France.

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http://dx.doi.org/10.1002/ana.24284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4348070PMC
December 2014

Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency.

Mov Disord Clin Pract 2014 Sep 26;1(3):240-242. Epub 2014 Jun 26.

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

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http://dx.doi.org/10.1002/mdc3.12055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353531PMC
September 2014

A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.

PLoS One 2014 7;9(5):e96663. Epub 2014 May 7.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy; Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM), University of Bologna, Bologna, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0096663PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4013013PMC
October 2015

Author response.

Neurology 2014 Feb;82(7):644

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February 2014

Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.

Muscle Nerve 2014 Aug;50(2):292-5

Department of Neurology, Columbia University Medical Center, College of Physicians & Surgeons, 630 West 168th Street, New York, New York, USA.

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http://dx.doi.org/10.1002/mus.24262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107085PMC
August 2014

Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers.

Neurology 2014 Mar 29;82(9):798-805. Epub 2014 Jan 29.

From the Department of Radiology (N.W., X.M., D.S.), Weill Cornell Medical College, New York; and Department of Neurology (P.K., K.M.E., V.H., S.D., D.D.V.), Columbia University College of Physicians and Surgeons, New York, NY.

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http://dx.doi.org/10.1212/WNL.0000000000000169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3945652PMC
March 2014

Mitochondrial DNA mutation load: chance or destiny?

JAMA Neurol 2013 Dec;70(12):1484-5

Department of Neurology, Columbia University Medical Center, New York, New York.

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http://dx.doi.org/10.1001/jamaneurol.2013.4401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3955979PMC
December 2013

Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.

JAMA Neurol 2013 Nov;70(11):1425-8

Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Hospital Universitario Virgen del Rocío/Instituto de Biomedicina de Sevilla/Consejo Superior de Investigaciones Científicas/Universidad de Sevilla, Seville, Spain2Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Ministry of Economy and Competitiveness, Madrid, Spain3Department of Neurology, Columbia University Medical Center, New York, New York.

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http://dx.doi.org/10.1001/jamaneurol.2013.3185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973017PMC
November 2013

New insights in the field of muscle glycogenoses.

Curr Opin Neurol 2013 Oct;26(5):544-53

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1097/WCO.0b013e328364dbdcDOI Listing
October 2013

Mitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg Lecture.

Neurology 2013 Jul;81(3):281-91

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

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http://dx.doi.org/10.1212/WNL.0b013e31829bfe89DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959764PMC
July 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

The clinical maze of mitochondrial neurology.

Nat Rev Neurol 2013 Aug 9;9(8):429-44. Epub 2013 Jul 9.

College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA.

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http://dx.doi.org/10.1038/nrneurol.2013.126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959773PMC
August 2013

Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.

J Neurochem 2013 Oct 9;127(1):101-13. Epub 2013 May 9.

Department of Neurology, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel.

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http://dx.doi.org/10.1111/jnc.12277DOI Listing
October 2013

TK2 mutation presenting as indolent myopathy.

Neurology 2013 Jan 9;80(5):504-6. Epub 2013 Jan 9.

Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.

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http://dx.doi.org/10.1212/WNL.0b013e31827f0ff7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590052PMC
January 2013

Human mitochondrial DNA: roles of inherited and somatic mutations.

Nat Rev Genet 2012 Dec;13(12):878-90

Department of Neurology, Columbia University Medical Center, 630 West 168th Street, New York, New York 10032, USA.

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http://www.nature.com/articles/nrg3275
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http://dx.doi.org/10.1038/nrg3275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959762PMC
December 2012

A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.

Arch Neurol 2012 Sep;69(9):1190-2

Department ofNeurology, H. Houston Merritt Clinical Research Center, Columbia University Medical Center, 630W168th St,P&S 4-423, New York, NY 10032, USA.

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http://dx.doi.org/10.1001/archneurol.2011.2600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961086PMC
September 2012

Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.

Arch Neurol 2012 May;69(5):657-61

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1001/archneurol.2011.2333DOI Listing
May 2012

The many clinical faces of cytochrome c oxidase deficiency.

Adv Exp Med Biol 2012 ;748:341-57

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1007/978-1-4614-3573-0_14DOI Listing
September 2012

Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.

J Child Neurol 2013 Feb 24;28(2):264-8. Epub 2012 Apr 24.

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1177/0883073812441067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959766PMC
February 2013

Loss of myelin-associated glycoprotein in kearns-sayre syndrome.

Arch Neurol 2012 Apr;69(4):490-9

Mitochondrial Research Group, Institute for Aging and Health, Newcastle University, Framlington Place, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1001/archneurol.2011.2167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3672633PMC
April 2012

A novel gene mutation in a patient with SANDO.

J Exp Integr Med 2012 ;2(2)

Department of Neurology, Columbia University Medical Center, New York, NY.

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http://dx.doi.org/10.5455/jeim.200312.cr.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832984PMC
January 2012

MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.

Muscle Nerve 2011 Sep;44(3):448-51

Department of Neurology, Columbia University Medical Center, 630 West 168th Street, P&S 4-423, New York, New York 10032, USA.

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http://doi.wiley.com/10.1002/mus.22149
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http://dx.doi.org/10.1002/mus.22149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197731PMC
September 2011

Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.

Hum Mol Genet 2011 Nov 19;20(22):4430-9. Epub 2011 Aug 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddr371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196891PMC
November 2011

Coenzyme Q deficiency in muscle.

Curr Opin Neurol 2011 Oct;24(5):449-56

Clinical Genetics Unit, Department of Pediatrics, University of Padova, Italy.

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http://dx.doi.org/10.1097/WCO.0b013e32834ab528DOI Listing
October 2011

Short communication: transplacental nucleoside analogue exposure and mitochondrial parameters in HIV-uninfected children.

AIDS Res Hum Retroviruses 2011 Jul 15;27(7):777-83. Epub 2011 Jan 15.

Center for Biostatistics in AIDS Research, Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1089/aid.2010.0204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159117PMC
July 2011

Historical perspective on mitochondrial medicine.

Dev Disabil Res Rev 2010 ;16(2):106-13

Columbia University Medical Center, College of Physicians & Surgeons, 630 West 168th Street, New York, NY 10032, USA.

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http://doi.wiley.com/10.1002/ddrr.102
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http://dx.doi.org/10.1002/ddrr.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3839238PMC
January 2011

Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.

Arch Neurol 2010 Aug;67(8):976-9

Department of Neurology, Columbia University, 710 W 168th St, New York, NY 10032, USA.

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http://dx.doi.org/10.1001/archneurol.2010.174DOI Listing
August 2010

Metabolic myopathies.

Curr Rheumatol Rep 2010 Oct;12(5):386-93

Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, Room 4-424B, 630 West 168th Street, New York, NY 10032, USA.

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http://link.springer.com/10.1007/s11926-010-0119-9
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http://dx.doi.org/10.1007/s11926-010-0119-9DOI Listing
October 2010

Therapeutic prospects for mitochondrial disease.

Trends Mol Med 2010 Jun;16(6):268-76

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

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https://linkinghub.elsevier.com/retrieve/pii/S14714914100005
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http://dx.doi.org/10.1016/j.molmed.2010.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955999PMC
June 2010

A history of mitochondrial diseases.

J Inherit Metab Dis 2011 Apr 21;34(2):261-76. Epub 2010 May 21.

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1007/s10545-010-9082-xDOI Listing
April 2011

A diagnostic algorithm for metabolic myopathies.

Curr Neurol Neurosci Rep 2010 Mar;10(2):118-26

Department of Neurology, Columbia University Medical Center, 630 West 168th Street, P&S 4-423, New York, NY 10032, USA.

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http://link.springer.com/10.1007/s11910-010-0096-4
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http://dx.doi.org/10.1007/s11910-010-0096-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872126PMC
March 2010

Myopathy and parkinsonism in phosphoglycerate kinase deficiency.

Muscle Nerve 2010 May;41(5):707-10

Department of Neurology, Columbia University Medical Center, 3-313 Russ Berrie Medical Science Pavilion, 1150 St. Nicholas Avenue, New York, New York 10032, USA.

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http://dx.doi.org/10.1002/mus.21612DOI Listing
May 2010

A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).

Neuromuscul Disord 2010 Mar 10;20(3):204-6. Epub 2010 Feb 10.

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/j.nmd.2010.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841220PMC
March 2010

Muscle phosphorylase b kinase deficiency revisited.

Neuromuscul Disord 2010 Feb 18;20(2):125-7. Epub 2010 Jan 18.

Département de Neurologie, Hôpital Civil, BP426, 67091 Strasbourg, France.

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http://dx.doi.org/10.1016/j.nmd.2009.11.004DOI Listing
February 2010

Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy.

Arch Neurol 2009 Aug;66(8):951-7

Dipartimento di Biochimica "G. Moruzzi", Università di Bologna, Bologna, Italy.

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http://dx.doi.org/10.1001/archneurol.2009.134DOI Listing
August 2009

VMA21 deficiency: a case of myocyte indigestion.

Cell 2009 Apr;137(2):213-5

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S009286740900387
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http://dx.doi.org/10.1016/j.cell.2009.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2731491PMC
April 2009

A 41-year-old woman with progressive leg weakness and numbness, dizziness, and myalgia.

Neurology 2009 Apr;72(14):1262-8

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

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http://dx.doi.org/10.1212/01.wnl.0000346183.52155.6eDOI Listing
April 2009

The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia.

Neuromuscul Disord 2009 Apr 13;19(4):297-9. Epub 2009 Mar 13.

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/j.nmd.2009.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2699630PMC
April 2009

Muscle phosphoglycerate mutase deficiency revisited.

Arch Neurol 2009 Mar;66(3):394-8

Department of Neurology, Columbia University Medical Center, New York, New York, USA.

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http://dx.doi.org/10.1001/archneurol.2008.584DOI Listing
March 2009

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS.

Am J Med Genet A 2009 Feb;149A(4):584-7

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

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http://dx.doi.org/10.1002/ajmg.a.32703DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2663596PMC
February 2009