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ArticlesPeer ReviewedFull Text
Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells
Author / Creator:Walker, Melissa A ; Lareau, Caleb A ; Ludwig, Leif S ; Karaa, Amel ; Sankaran, Vijay G ; Regev, Aviv ; Mootha, Vamsi K
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2020-10, Vol.383 (16), p.1556-1563
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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Author / Creator:Parikh, Sumit ; Goldstein, Amy ; Karaa, Amel ; Koenig, Mary Kay ; Anselm, Irina ; Brunel-Guitton, Catherine ; Christodoulou, John ; Cohen, Bruce H ; Dimmock, David ; Enns, Gregory M ; Falk, Marni J ; Feigenbaum, Annette ; Frye, Richard E ; Ganesh, Jaya ; Griesemer, David ; Haas, Richard ; Horvath, Rita ; Korson, Mark ; Kruer, Michael C ; Mancuso, Michelangelo ; McCormack, Shana ; Raboisson, Marie Josee ; Reimschisel, Tyler ; Salvarinova, Ramona ; Saneto, Russell P ; Scaglia, Fernando ; Shoffner, John ; Stacpoole, Peter W ; Sue, Carolyn M ; Tarnopolsky, Mark ; Van Karnebeek, Clara ; Wolfe, Lynne A ; Cunningham, Zarazuela Zolkipli ; Rahman, Shamima ; Chinnery, Patrick F
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1380
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Case 21-2019: A 31-Year-Old Woman with Vision Loss
Author / Creator:Matiello, Marcelo ; Juliano, Amy F ; Bowley, Michael ; Karaa, Amel
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2019-07, Vol.381 (2), p.164-172
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A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy
Author / Creator:Karaa, Amel ; Haas, Richard ; Goldstein, Amy ; Vockley, Jerry ; Cohen, Bruce H.
Publisher:Germany: John Wiley & Sons, Inc
Journal title:Journal of cachexia, sarcopenia and muscle, 2020-08, Vol.11 (4), p.909-918
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Case 35-2020: A 59-Year-Old Woman with Type 1 Diabetes Mellitus and Obtundation
Author / Creator:Caplan, David N ; Rapalino, Otto ; Karaa, Amel ; Rosovsky, Rachel P ; Uljon, Sacha
Publisher:Boston: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2020-11, Vol.383 (20), p.1974-1983
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A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008–2015
Author / Creator:Cohen, Bruce ; Balcells, Cristy ; Hotchkiss, Brian ; Aggarwal, Kavita ; Karaa, Amel
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-11, Vol.13 (1), p.210-210, Article 210
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Gastrointestinal Sensory Neuropathy and Dysmotility in Fabry Disease: Presentations and Effect on Patient's Quality of Life
Author / Creator:Bar Nir ; Karaa Amel ; Kiser Katheryn ; Kuo, Braden ; Zar-Kessler, Claire
Publisher:New York: Wolters Kluwer Health Medical Research, Lippincott Williams & Wilkins
Journal title:Clinical and translational gastroenterology, 2023-12, Vol.14 (12), p.e00633
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Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
Author / Creator:Parikh, Sumit ; Karaa, Amel ; Goldstein, Amy ; Bertini, Enrico Silvio ; Chinnery, Patrick F ; Christodoulou, John ; Cohen, Bruce H ; Davis, Ryan L ; Falk, Marni J ; Fratter, Carl ; Horvath, Rita ; Koenig, Mary Kay ; Mancuso, Michaelangelo ; McCormack, Shana ; McCormick, Elizabeth M ; McFarland, Robert ; Nesbitt, Victoria ; Schiff, Manuel ; Steele, Hannah ; Stockler, Silvia ; Sue, Carolyn ; Tarnopolsky, Mark ; Thorburn, David R ; Vockley, Jerry ; Rahman, Shamima
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2019-03, Vol.56 (3), p.123-130
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The evolution of the mitochondrial disease diagnostic odyssey
Author / Creator:Thompson, John L. P. ; Karaa, Amel ; Pham, Hung ; Yeske, Philip ; Krischer, Jeffrey ; Xiao, Yi ; Long, Yuelin ; Kramer, Amanda ; Dimmock, David ; Holbert, Amy ; Gorski, Cliff ; Engelstad, Kristin M. ; Buchsbaum, Richard ; Rosales, Xiomara Q. ; Hirano, Michio
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-06, Vol.18 (1), p.157-157, Article 157
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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
Author / Creator:Karaa, Amel ; Bertini, Enrico ; Carelli, Valerio ; Cohen, Bruce ; Ennes, Gregory M. ; Falk, Marni J. ; Goldstein, Amy ; Gorman, Gráinne ; Haas, Richard ; Hirano, Michio ; Klopstock, Thomas ; Koenig, Mary Kay ; Kornblum, Cornelia ; Lamperti, Costanza ; Lehman, Anna ; Longo, Nicola ; Molnar, Maria Judit ; Parikh, Sumit ; Phan, Han ; Pitceathly, Robert D. S. ; Saneto, Russekk ; Scaglia, Fernando ; Servidei, Serenella ; Tarnopolsky, Mark ; Toscano, Antonio ; Van Hove, Johan L. K. ; Vissing, John ; Vockley, Jerry ; Finman, Jeffrey S. ; Abbruscato, Anthony ; Brown, David A. ; Sullivan, Alana ; Shiffer, James A. ; Mancuso, Michelango
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-11, Vol.19 (1), p.431-12, Article 431
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Correction to: The evolution of the mitochondrial disease diagnostic odyssey
Author / Creator:Thompson, John L. P. ; Karaa, Amel ; Pham, Hung ; Yeske, Philip ; Krischer, Jeffrey ; Xiao, Yi ; Long, Yuelin ; Kramer, Amanda ; Dimmock, David ; Holbert, Amy ; Gorski, Cliff ; Engelstad, Kristin M. ; Buchsbaum, Richard ; Rosales, Xiomara Q. ; Hirano, Michio
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.194-194, Article 194
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Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum
Author / Creator:Cotman, Susan L. ; Karaa, Amel ; Staropoli, John F. ; Sims, Katherine B.
Publisher:New York: Springer US
Journal title:Current neurology and neuroscience reports, 2013-08, Vol.13 (8), p.366-366, Article 366
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Psychometric performance of the Primary Mitochondrial Myopathy Symptom Assessment (PMMSA) in a randomized, double-blind, placebo-controlled crossover study in subjects with mitochondrial disease
Author / Creator:Gwaltney, Chad ; Stokes, Jonathan ; Aiudi, Anthony ; Mazar, Iyar ; Ollis, Sarah ; Love, Emily ; Karaa, Amel ; Houts, Carrie R. ; Wirth, R. J. ; Shields, Alan L.
Publisher:Cham: Springer International Publishing
Journal title:Journal of patient-reported outcomes, 2022-12, Vol.6 (1), p.129-129, Article 129
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Ehlers Danlos Syndrome : An Unusual Presentation You Need to Know about
Author / Creator:Karaa, Amel ; Stoler, Joan M.
Publisher:Cairo, Egypt: Hindawi Puplishing Corporation
Journal title:Case reports in pediatrics, 2013-01, Vol.2013 (2013), p.1-5
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Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
Author / Creator:Karaa, Amel ; MacMullen, Laura E. ; Campbell, John C. ; Christodoulou, John ; Cohen, Bruce H. ; Klopstock, Thomas ; Koga, Yasutoshi ; Lamperti, Costanza ; Maanen, Rob ; McFarland, Robert ; Parikh, Sumit ; Rahman, Shamima ; Scaglia, Fernando ; Sherman, Alexander V. ; Yeske, Philip ; Falk, Marni J.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Genetics & genomics next, 2022-03, Vol.3 (1), p.n/a
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Linear IGA bullous dermatosis in Tunisian children : 31 cases
Author / Creator:Aida, Khaled ; Amel, Karaa ; Ines, Zaraa ; Becima, Fazaa ; Ridha, KamounMohamed ; Monia, Kharfi
Publisher:India: Medknow Publications and Media Pvt. Ltd
Journal title:Indian journal of dermatology, 2011-03, Vol.56 (2), p.145-159
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Bosentan® inhibits tumor vascularization and bone metastasis in an immunocompetent skin-fold chamber model of breast carcinoma cell metastasis
Author / Creator:Dréau, Didier ; Karaa, Amel ; Culberson, Cathy ; Wyan, Heather ; McKillop, Iain H. ; Clemens, Mark G.
Publisher:Netherlands: Springer Nature B.V
Journal title:Clinical & experimental metastasis, 2006-03, Vol.23 (1), p.41-53
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Optimized Nutrition in Mitochondrial Diseases Correlates with Improved Muscle Fatigue, Strength, and Quality of Life: You Are What You Eat, or Are You?
Author / Creator:Saneto, Russell P. ; Karaa, Amel
Publisher:Cham: Springer International Publishing
Journal title:Neurotherapeutics, 2023-10, Vol.20 (6), p.1694-1695
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Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
Author / Creator:Wallace, Eric L ; Goker-Alpan, Ozlem ; Wilcox, William R ; Holida, Myrl ; Bernat, John ; Longo, Nicola ; Linhart, Aleš ; Hughes, Derralynn A ; Hopkin, Robert J ; Tøndel, Camilla ; Langeveld, Mirjam ; Giraldo, Pilar ; Pisani, Antonio ; Germain, Dominique Paul ; Mehta, Ankit ; Deegan, Patrick B ; Molnar, Maria Judit ; Ortiz, Damara ; Jovanovic, Ana ; Muriello, Michael ; Barshop, Bruce A ; Kimonis, Virginia ; Vujkovac, Bojan ; Nowak, Albina ; Geberhiwot, Tarekegn ; Kantola, Ilkka ; Knoll, Jasmine ; Waldek, Stephen ; Nedd, Khan ; Karaa, Amel ; Brill-Almon, Einat ; Alon, Sari ; Chertkoff, Raul ; Rocco, Rossana ; Sakov, Anat ; Warnock, David G
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-06, Vol.61 (6), p.520-530
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Case 10-2022: A 78-Year-Old Man with Marked Ventricular Wall Thickening
Author / Creator:Pellikka, Patricia A ; Dudzinski, David M ; Lubitz, Steven A ; Tsang, Teresa S.M ; Tower-Rader, Albree ; Karaa, Amel
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2022-03, Vol.386 (13), p.1266-1276
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Showing 1 to 20 of 38 results

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Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells

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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

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

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

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

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A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008–2015

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Gastrointestinal Sensory Neuropathy and Dysmotility in Fabry Disease: Presentations and Effect on Patient's Quality of Life

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Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

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The evolution of the mitochondrial disease diagnostic odyssey

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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial

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Correction to: The evolution of the mitochondrial disease diagnostic odyssey

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Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

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Psychometric performance of the Primary Mitochondrial Myopathy Symptom Assessment (PMMSA) in a randomized, double-blind, placebo-controlled crossover study in subjects with mitochondrial disease

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

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Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

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Linear IGA bullous dermatosis in Tunisian children : 31 cases

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

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Optimized Nutrition in Mitochondrial Diseases Correlates with Improved Muscle Fatigue, Strength, and Quality of Life: You Are What You Eat, or Are You?

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Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

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Case 10-2022: A 78-Year-Old Man with Marked Ventricular Wall Thickening

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