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Author/Creator Karaa, Amel

12. Mitochondrial diseases in North America: An analysis of the NAMDC Registry. (April 2020)

Authors:
Barca, Emanuele; Long, Yuelin; Cooley, Victoria; Schoenaker, Robert; Emmanuele, Valentina; DiMauro, Salvatore; Cohen, Bruce H.; Karaa, Amel; Vladutiu, Georgirene D.; Haas, Richard; Van Hove, Johan L.K.; Scaglia, Fernando; Parikh, Sumit; Bedoyan, Jirair K.; DeBrosse, Susanne D.; Gavrilova, Ralitza...
Journal:
Neurology
Issue:
Volume 6:Number 2(2020)
Page Start:
Record Type:
Journal Article
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13. Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment. (28th March 2016)

Authors:
Politei, Juan M.; Bouhassira, Didier; Germain, Dominique P.; Goizet, Cyril; Guerrero‐Sola, Antonio; Hilz, Max J.; Hutton, Elspeth J.; Karaa, Amel; Liguori, Rocco; Üçeyler, Nurcan; Zeltzer, Lonnie K.; Burlina, Alessandro
Journal:
CNS neuroscience & therapeutics
Issue:
Volume 22:Number 7(2016)
Page Start:
568
Record Type:
Journal Article
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16. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. Issue 12 (December 2021)

Authors:
Diaz-Manera, Jordi; Kishnani, Priya S; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; van der Ploeg, Ans T; Berger, Kenneth I; Clemens, Paula R; Chien, Yin-Hsiu; Day, John W; Illarioshkin, Sergey; Roberts, Mark; Attarian, Shahram; Borges, Joao Lindolfo; Bouhou...
Journal:
Lancet neurology
Issue:
Volume 20:Issue 12(2021)
Page Start:
1012
Record Type:
Journal Article
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17. Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus. Issue 4 (7th February 2020)

Authors:
De Vries, Maaike C.; Brown, David A.; Allen, Mitchell E.; Bindoff, Laurence; Gorman, Gráinne S.; Karaa, Amel; Keshavan, Nandaki; Lamperti, Costanza; McFarland, Robert; Ng, Yi Shiau; O'Callaghan, Mar; Pitceathly, Robert D. S.; Rahman, Shamima; Russel, Frans G. M.; Varhaug, Kristin N.; Schirris, To...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 4(2020)
Page Start:
800
Record Type:
Journal Article
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18. Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Issue 12 (10th November 2020)

Authors:
McCormick, Elizabeth M.; Lott, Marie T.; Dulik, Matthew C.; Shen, Lishuang; Attimonelli, Marcella; Vitale, Ornella; Karaa, Amel; Bai, Renkui; Pineda‐Alvarez, Daniel E.; Singh, Larry N.; Stanley, Christine M.; Wong, Stacey; Bhardwaj, Anshu; Merkurjev, Daria; Mao, Rong; Sondheimer, Neal; Zhang, Shi...
Journal:
Human mutation
Issue:
Volume 41:Issue 12(2020)
Page Start:
2028
Record Type:
Journal Article
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