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Loss-of-function mitochondrial DNA polymerase gamma variants cause vascular smooth muscle cells to secrete a diffusible mitogenic factor Rothwell, Samantha; Ng, Irvin; Shalchy-Tabrizi, Sophia; Kalinowski, Pola; Taha, Omnia M.; Paris, Italia; Baniqued, Angelica; Lin, Lisa; Mezei, Michelle M.; Lehman, Anna; Julian, Lisa M.; Poburko, Damon Share Save
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group Tchan, Michel; Lehman, Anna; van Dussen, Laura; Langendonk, Janneke G.; Janssen, Mirian C. H.; Langeveld, Mirjam; Murphy, Elaine; Ryder, Bryony; Glamuzina, Emma; Merkel, Martin; Sechi, Annalisa; Arnoux, Jean-Baptiste; Mochel, Fanny; Alkemade, Gonnie; Maillot, Francois; Kaphan, Elsa; Mazodier, Karin; Thomas, Quentin; Leguy-Seguin, Vanessa; Marelli, Cecilia Share Save
Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia Ali, Dalal S.; Mirza, Reza D.; Alsarraf, Farah; Hussein, Salma; Abu Alrob, Hajar; Appelman-Dijkstra, Natasha M.; Beck-Nielsen, Signe Sparre; Biosse-Duplan, Martin; Brandi, Maria Luisa; Carpenter, Thomas O.; Chaussain, Catherine; Cohen-Solal, Martine; Crowley, Rachel K.; Dandurand, Karel; Florenzano, Pablo; Fukumoto, Seiji; Gagnon, Claudia; Goodyer, Paul; Grasemann, Corinna; Imel, Erik A.; de Beur, Suzanne M. Jan; Lehman, Anna; Lewiecki, E. Michael; Morgante, Emmett; Ward, Leanne M.; Khan, Aliya A.; Guyatt, Gordon Share Save
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne; 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 Share Save
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Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases Velde, Hedwig M.; Vaseghi-Shanjani, Maryam; Smits, Jeroen J.; Ramakrishnan, Gayatri; Oostrik, Jaap; Wesdorp, Mieke; Astuti, Galuh; Yntema, Helger G.; Hoefsloot, Lies; Lanting, Cris P.; Huynen, Martijn A.; Lehman, Anna; Turvey, Stuart E.; Pennings, Ronald J. E.; Kremer, Hannie Share Save
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants Wortmann, Saskia B.; Feichtinger, Rene G.; Abela, Lucia; van Gemert, Loes A.; Aubart, Melodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stuehn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Muehlhausen, Chris; Rio, Marlene; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B.; Syrbe, Steffen; Zylicz, Stas A.; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A.; Wevers, Ron A.; Boltshauser, Eugen; Willemsen, Michel A. Share Save
Glycosphingolipid evaluation for Fabry disease patients receiving migalastat after switching from enzyme replacement therapy Auray-Blais, Christiane; Lavoie, Pamela; Martineau, Tristan; Ntumba, Georges Kabala; Gamrani, Mohamed; Khan, Aneal; Altarescu, Gheona; Lehman, Anna; Goker-Alpan, Ozlem; Nowak, Albina; West, Michael L.; Bichet, Daniel G. Share Save
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FollowME Fabry Pathfinders Registry: Renal effectiveness in a cohort of patients on migalastat treatment for at least three years Westa, Michael L.; Hughesb, Derralynn; Sunder-Plassmannc, Gere; Jovanovicd, Ana; Brande, Eva; Bichetf, Daniel G.; Pisanig, Antonio; Nowakh, Albina; Torrai, Roser; Khanj, Aneal; Azevedok, Olga; Lehmanl, Anna; Linhartm, Ales; Ruteckin, Jasmine; Giulianon, Joseph D.; Krusinskan, Eva; Nordbecko, Peter Share Save
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Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism Samra, Simran; Sharma, Mehul; Vaseghi-Shanjani, Maryam; Del Bel, Kate L.; Byres, Loryn; Lin, Susan; Dalmann, Joshua; Salman, Areesha; Mwenifumbo, Jill; Modi, Bhavi P.; Biggs, Catherine M.; Boelman, Cyrus; Clarke, Lorne A.; Lehman, Anna; Turvey, Stuart E. Share Save
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy The MMPOWER-3 Randomized Clinical Trial Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce H.; Enns, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne Siobhan; 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, Russell; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Brown, David A.; Shiffer, James A.; Mancuso, Michelango Share Save
Increased Ca2+ Transient Underlies RyR2-Related Left Ventricular Noncompaction Ni, Mingke; Li, Yanhui; Wei, Jinhong; Song, Zhenpeng; Wang, Hui; Yao, Jinjing; Chen, Yong-Xiang; Belke, Darrell; Estillore, John Paul; Wang, Ruiwu; Vallmitjana, Alexander; Benitez, Raul; Hove-Madsen, Leif; Feng, Wei; Chen, Ju; Roston, Thomas M. M.; Sanatani, Shubhayan; Lehman, Anna; Chen, S. R. Wayne Share Save
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay Mohajeri, Arezoo; Vaseghi-Shanjani, Maryam; Rosenfeld, Jill A.; Yang, Gui Xiang; Lu, Henry; Sharma, Mehul; Lin, Susan; Salman, Areesha; Waqas, Meriam; Azamian, Mahshid Sababi; Worley, Kim C.; Del Bel, Kate L.; Kozak, Frederick K.; Rahmanian, Ronak; Biggs, Catherine M.; Hildebrand, Kyla J.; Lalani, Seema R.; Nicholas, Sarah K.; Scott, Daryl A.; Mostafavi, Sara; van Karnebeek, Clara; Henkelman, Erika; Halparin, Jessica; Yang, Connie L.; Armstrong, Linlea; Turvey, Stuart E.; Lehman, Anna Share Save
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