Publications by authors named "Amel Karaa"

55Publications

Case 35-2020: A 59-Year-Old Woman with Type 1 Diabetes Mellitus and Obtundation.

N Engl J Med 2020 Nov;383(20):1974-1983

From the Departments of Neurology (D.N.C.), Radiology (O.R.), Pediatrics (A.K.), Medicine (R.P.R.), and Pathology (S.U.), Massachusetts General Hospital, and the Departments of Neurology (D.N.C.), Radiology (O.R.), Pediatrics (A.K.), Medicine (R.P.R.), and Pathology (S.U.), Harvard Medical School - both in Boston.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMcpc2002412DOI Listing
November 2020

Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.

N Engl J Med 2020 10 12;383(16):1556-1563. Epub 2020 Aug 12.

From the Departments of Molecular Biology (M.A.W., V.K.M.), Neurology (M.A.W.), and Medicine (V.K.M) and the Genetics Unit, Department of Pediatrics (A.K.), Massachusetts General Hospital, Howard Hughes Medical Institute (M.A.W., A.R., V.K.M.), the Division of Hematology-Oncology, Boston Children's Hospital (C.A.L., L.S.L., V.G.S.), the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (C.A.L., L.S.L., V.G.S.), the Department of Systems Biology, Harvard Medical School (V.K.M.), and Harvard Medical School (M.A.W., A.K.), Boston, and the Klarman Cell Observatory (L.S.L., A.R.), Broad Institute of MIT (Massachusetts Institute of Technology) and Harvard (M.A.W., C.A.L., V.G.S., V.K.M.), the Harvard Stem Cell Institute (V.G.S.), and the Department of Biology and Koch Institute of Integrative Cancer Research, Massachusetts Institute of Technology (A.R.), Cambridge - both in Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa2001265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7593775PMC
October 2020

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy.

J Cachexia Sarcopenia Muscle 2020 Aug 25;11(4):909-918. Epub 2020 Feb 25.

Department of Pediatrics, Rebecca D. Considine Research Institute, Akron Children's Hospital, Akron, OH, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcsm.12559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432581PMC
August 2020

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial.

Neurology 2020 02 2;94(7):e687-e698. Epub 2020 Jan 2.

From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000008861DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176297PMC
February 2020

A Newborn with Severe Ventriculomegaly: Expanding the Gene Mutation Phenotype.

J Pediatr Genet 2019 Dec 12;8(4):240-243. Epub 2019 Jun 12.

Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-1692414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824891PMC
December 2019

Fatigue in primary genetic mitochondrial disease: No rest for the weary.

Neuromuscul Disord 2019 11 25;29(11):895-902. Epub 2019 Sep 25.

Mitochondrial Disease Program, Genetics Unit, Massachusetts General Hospital, Boston, MA, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2019.09.012DOI Listing
November 2019

Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery.

Data Brief 2019 Aug 30;25:104343. Epub 2019 Jul 30.

Neurogenetics, Center for Pediatric Neurology, Cleveland Clinic Children's Hospital, Cleveland, OH, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.dib.2019.104343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727191PMC
August 2019

Case 21-2019: A 31-Year-Old Woman with Vision Loss.

N Engl J Med 2019 Jul;381(2):164-172

From the Departments of Neurology (M.M., M.B.) and Pediatrics (A.K.), Massachusetts General Hospital, the Departments of Neurology (M.M., M.B.), Radiology (A.F.J.), and Pediatrics (A.K.), Harvard Medical School, and the Department of Radiology, Massachusetts Eye and Ear Infirmary (A.F.J.) - all in Boston.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMcpc1900597DOI Listing
July 2019

Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United States.

Mol Genet Metab 2019 06 23;127(2):122-127. Epub 2019 May 23.

Neurogenetics, Center for Pediatric Neurology, Cleveland Clinic Children's Hospital, Cleveland, OH, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2019.05.012DOI Listing
June 2019

Relapsing remitting multiple sclerosis in progressive external ophthalmoplegia: A report of two cases.

Mult Scler 2019 05 17;25(6):879-882. Epub 2018 Dec 17.

Department of Neurology, Massachusetts General Hospital, Boston, MA, USA/ Harvard Medical School, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1352458518800794DOI Listing
May 2019

Effects of mitochondrial disease/dysfunction on pregnancy: A retrospective study.

Mitochondrion 2019 05 7;46:214-220. Epub 2018 Jul 7.

MitoAction, PO Box 51474, Boston, MA 02205, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2018.06.007DOI Listing
May 2019

Diagnostic odyssey of patients with mitochondrial disease: Results of a survey.

Neurol Genet 2018 Apr 26;4(2):e230. Epub 2018 Mar 26.

Mailman School of Public Health (J.G., E.S., J.L.P.T.) and College of Physicians and Surgeons (M.H.), Columbia University Medical Center, New York, NY. J. Grier is now with DOCS GLOBAL, Raleigh, NC; and Massachussetts General Hospital (A.K.), Harvard University, Boston.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873725PMC
April 2018

Case 7-2018: A 25-Year-Old Man with New-Onset Seizures.

N Engl J Med 2018 Mar;378(10):941-948

From the Departments of Neurology (E.C.C.), Radiology (S.Y.H.), Genetics (A.K.), and Pathology (M.W.R.), Massachusetts General Hospital, and the Departments of Neurology (E.C.C.), Radiology (S.Y.H.), Genetics (A.K.), and Pathology (M.W.R.), Harvard Medical School - both in Boston.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMcpc1712226DOI Listing
March 2018

Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy.

Neurology 2018 04 2;90(14):e1212-e1221. Epub 2018 Mar 2.

From the Genetics Unit (A.K.), Massachusetts General Hospital, Boston; UC San Diego School of Medicine (R.H.), La Jolla, CA; Children's Hospital of Pittsburgh (A.G., J.V.), PA; Stealth BioTherapeutics (W.D.W.), Newton, MA; and Akron Children's Hospital (B.H.C.), OH.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000005255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890606PMC
April 2018

Response to the Letter to the Editor by Finsterer and Zarrouk-Mahjoub in Clin Nephrol Case Stud. 2018; 6: 1.

Clin Nephrol Case Stud 2018 16;6:2-3. Epub 2018 Jan 16.

Department of Genetics and Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5414/CNCS109366RDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778978PMC
January 2018

Focal segmental glomerulosclerosis associated with mitochondrial disease.

Clin Nephrol Case Stud 2017 3;5:20-25. Epub 2017 Mar 3.

Department of Genetics and Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5414/CNCS109083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5438005PMC
March 2017

Case 13-2017. A 41-Year-Old Man with Hearing Loss, Seizures, Weakness, and Cognitive Decline.

N Engl J Med 2017 04;376(17):1668-1678

From the Departments of Neurology (H.M.R.), Radiology (W.A.C.), Pediatrics (A.K.), and Pathology (D.H.O.), Massachusetts General Hospital, and the Departments of Neurology (H.M.R.), Radiology (W.A.C.), Pediatrics (A.K.), and Pathology (D.H.O.), Harvard Medical School - both in Boston.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMcpc1616022DOI Listing
April 2017

Mitochondrial disease patients' perception of dietary supplements' use.

Mol Genet Metab 2016 09 16;119(1-2):100-8. Epub 2016 Jul 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031526PMC
September 2016

Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis.

Therap Adv Gastroenterol 2016 Jul 15;9(4):626-34. Epub 2016 Apr 15.

MGH Center for Neurointestinal Health, GI Unit Massachusetts General Hospital, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1756283X16642936DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4913334PMC
July 2016

Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.

JAMA Neurol 2016 May;73(5):591-4

Department of Pediatrics, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaneurol.2015.5072DOI Listing
May 2016

ET-1 Stimulates Superoxide Production by eNOS Following Exposure of Vascular Endothelial Cells to Endotoxin.

Shock 2016 07;46(1):60-6

*Department of Biological Sciences, University of North Carolina at Charlotte, Charlotte, North Carolina †Center for Biomedical Engineering and Science, University of North Carolina at Charlotte, Charlotte, North Carolina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SHK.0000000000000576DOI Listing
July 2016

The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.

Pediatr Diabetes 2015 Feb 20;16(1):1-9. Epub 2014 Oct 20.

Neurogenetics Clinic, Neurology and Clinical Genetics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pedi.12223DOI Listing
February 2015

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.

Curr Neurol Neurosci Rep 2013 Aug;13(8):366

Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, 185 Cambridge St, Boston, MA 02114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11910-013-0366-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774306PMC
August 2013

Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about.

Case Rep Pediatr 2013 16;2013:764659. Epub 2013 May 16.

Boston Children's Hospital, Harvard Medical School, Boston, MA 02115-5724, USA ; Boston Children's Hospital, Genetics Division, Hunnewell 536, 300 Longwood Avenue, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2013/764659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3670523PMC
June 2013

Linear IgA bullous dermatosis in tunisian children: 31 cases.

Indian J Dermatol 2011 Mar;56(2):153-9

Department of Dermatology, Charles Nicolle Hospital, Tunis, Tunisia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0019-5154.80406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108513PMC
March 2011

Linear IgA bullous dermatosis: the more frequent bullous dermatosis of children.

Dermatol Online J 2010 Jan 15;16(1). Epub 2010 Jan 15.

Dermatology Department, Charles Nicolle Hospital, Tunis, Tunisia.

View Article

Download full-text PDF

Source
January 2010

Tumor with central crusting.

J Fam Pract 2008 Oct;57(10):669-71

Department of Internal Medicine, Mount Auburn Hospital, Cambridge, MA USA.

View Article

Download full-text PDF

Source
October 2008

S-adenosyl-L-methionine attenuates oxidative stress and hepatic stellate cell activation in an ethanol-LPS-induced fibrotic rat model.

Shock 2008 Aug;30(2):197-205

Department of Biology, University of North Carolina at Charlotte, Charlotte, NC 28223, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/shk.0b013e318160f417DOI Listing
August 2008

Keratoacanthoma: a tumor in search of a classification.

Int J Dermatol 2007 Jul;46(7):671-8

Department of Biology, UNC Charlotte, North Carolina, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-4632.2007.03260.xDOI Listing
July 2007

Differential effects of oxidative stress on hepatic endothelial and Kupffer cell eicosanoid release in response to endothelin-1.

Microcirculation 2006 Sep;13(6):457-66

Department of Biology, University of North Carolina at Charlotte, Charlotte, North Carolina 28223, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/10739680600776278DOI Listing
September 2006

Bosentan inhibits tumor vascularization and bone metastasis in an immunocompetent skin-fold chamber model of breast carcinoma cell metastasis.

Clin Exp Metastasis 2006 7;23(1):41-53. Epub 2006 Jul 7.

Department of Biology, University of North Carolina at Charlotte, Science & Technology Bldg, Rm. 490B, 9201 University City Blvd, Charlotte, NC 28223, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10585-006-9016-zDOI Listing
January 2007

Inhibition of endothelin-1-mediated up-regulation of iNOS by bosentan ameliorates endotoxin-induced liver injury in cirrhosis.

Shock 2006 Mar;25(3):306-13

Department of Biology, University of North Carolina at Charlotte, charlotte, NC 28223, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.shk.0000196549.18258.6aDOI Listing
March 2006

LPS inhibits endothelin-1-induced endothelial NOS activation in hepatic sinusoidal cells through a negative feedback involving caveolin-1.

Hepatology 2006 Jan;43(1):182-90

Department of Biology, University of North Carolina, Charlotte, NC 28223, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/hep.20940DOI Listing
January 2006

Oxidative stress disrupts nitric oxide synthase activation in liver endothelial cells.

Free Radic Biol Med 2005 Nov 10;39(10):1320-31. Epub 2005 Aug 10.

Department of Biology, University of North Carolina at Charlotte, 9201 University City Boulevard, Charlotte, NC 28223, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.freeradbiomed.2005.06.014DOI Listing
November 2005

Chronic ethanol sensitizes the liver to endotoxin via effects on endothelial nitric oxide synthase regulation.

Shock 2005 Nov;24(5):447-54

Department of Biology, University of North Carolina, Charlotte, North Carolina 28223, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.shk.0000180616.13941.7dDOI Listing
November 2005

Induction of biphasic changes in perfusion heterogeneity of rat liver after sequential stress in vivo.

Shock 2005 Oct;24(4):324-31

Department of Biology, University of North Carolina, Charlotte, NC 28223, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.shk.0000180618.98692.eeDOI Listing
October 2005

LPS inhibits endothelin-1-mediated eNOS translocation to the cell membrane in sinusoidal endothelial cells.

Microcirculation 2005 Jul-Aug;12(5):433-42

Department of Biology, University of North Carolina at Charlotte, Charlotte, North Carolina, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/10739680590960377DOI Listing
October 2005

Quantification of hepatic microcirculation heterogeneity of perfusion: effects of endothelin-1.

Microvasc Res 2005 May;69(3):180-6

Department of Biology, University of North Carolina at Charlotte, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mvr.2005.03.003DOI Listing
May 2005

Thromboxane A2 from Kupffer cells contributes to the hyperresponsiveness of hepatic portal circulation to endothelin-1 in endotoxemic rats.

Am J Physiol Gastrointest Liver Physiol 2005 Feb;288(2):G277-83

Department of Biology, University of North Carolina at Charlotte, 9201 Univ. City Blvd., Charlotte, NC 28223, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/ajpgi.00256.2004DOI Listing
February 2005