Not logged inSigns, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives
Medrano, Paolo; Banderas, Benjamin; Brimmer, Marisa; Settel, Lily; Berger, Sari; Shields, Alan; Goldstein, Amy; Karaa, Amel; Larson, Austin; Parikh, Sumit; Scaglia, Fernando; Harrington, Karra Danyelle; Edgar, Chris James; Ventola, Pamela; Webster, Matthew; Chickering, Jennifer; Gwaltney, Chad; Wilson, Phebe; Glasser, Chad .png)
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SaveGenotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trialKaraa, 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 Exploring the neurological features of individuals with germline PTEN variants: A multicenter studyDhawan, Andrew; Baitamouni, Sarah; Liu, Darren; Busch, Robyn; Klaas, Patricia; Frazier, Thomas W.; Srivastava, Siddharth; Parikh, Sumit; Hsich, Gary E.; Friedman, Neil R.; Ritter, David M.; Hardan, Antonio Y.; Martinez-Agosto, Julian A.; Sahin, Mustafa; Eng, Charis Share Save Registry-derived stage (RD-Stage) for capturing cancer stage at diagnosis for endometrial cancerEvans, S. M.; Ivanova, K.; Rome, R.; Cossio, D.; Pilgrim, Chc; Zalcberg, J.; Antill, Y.; Blake, L.; Du Guesclin, A.; Garrett, A.; Giffard, D.; Golobic, N.; Moir, D.; Parikh, S.; Parisi, A.; Sanday, K.; Shadbolt, C.; Smith, M.; Te Marvelde, L.; Williams, K. Share Save Share Save Share Save Share Save Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy The MMPOWER-3 Randomized Clinical TrialKaraa, 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 Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cellsLareau, Caleb A.; Dubois, Sonia M.; Buquicchio, Frank A.; Hsieh, Yu-Hsin; Garg, Kopal; Kautz, Pauline; Nitsch, Lena; Praktiknjo, Samantha D.; Maschmeyer, Patrick; Verboon, Jeffrey M.; Gutierrez, Jacob C.; Yin, Yajie; Fiskin, Evgenij; Luo, Wendy; Mimitou, Eleni P.; Muus, Christoph; Malhotra, Rhea; Parikh, Sumit; Fleming, Mark D.; Oevermann, Lena; Schulte, Johannes; Eckert, Cornelia; Kundaje, Anshul; Smibert, Peter; Vardhana, Santosha A.; Satpathy, Ansuman T.; Regev, Aviv; Sankaran, Vijay G.; Agarwal, Suneet; Ludwig, Leif S. Share Save Share Save Share Save Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability SyndromeSteele, Jacqueline L.; Morrow, Michelle M.; Sarnat, Harvey B.; Alkhunaizi, Ebba; Brandt, Tracy; Chitayat, David A.; DeFilippo, Colette P.; V. Douglas, Ganka; Dubbs, Holly A.; Elloumi, Houda Zghal; Glassford, Megan R.; Hannibal, Mark C.; Heron, Benedicte; Kim, Linda E.; Marco, Elysa J.; Mignot, Cyril; Monaghan, Kristin G.; Myers, Kenneth A.; Parikh, Sumit; Quinonez, Shane C.; Rajabi, Farrah; Shankar, Suma P.; Shinawi, Marwan S.; van de Kamp, Jiddeke J. P.; Veerapandiyan, Aravindhan; Waldman, Amy T.; Graf, William D. Share Save The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorderKumble, Smitha; Levy, Amanda M.; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane-Yeboa, Kwame; Benke, Paul J.; Berger, Sara M.; Bjerglund, Lise; Campos-Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S.; Comi, Anne M.; Curry, Cynthia; Damaj, Lena; Denomme-Pichon, Anne-Sophie; Emrick, Lisa; Faivre, Laurence; Fasano, Mary Beth; Fievet, Alice; Finkel, Richard S.; Garcia-Minaur, Sixto; Gerard, Amanda; Gomez-Puertas, Paulino; Guillen Sacoto, Maria J.; Hoffman, Trevor L.; Howard, Lillian; Iglesias, Alejandro D.; Izumi, Kosuke; Larson, Austin; Leiber, Anja; Lozano, Reymundo; Marcos-Alcalde, Inigo; Mintz, Cassie S.; Mullegama, Sureni V.; Moller, Rikke S.; Odent, Sylvie; Oppermann, Henry; Ostergaard, Elsebet; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Paulson, Anna M.; Platzer, Konrad; Posey, Jennifer E.; Potocki, Lorraine; Revah-Politi, Anya; Rio, Marlene; Ritter, Alyssa L.; Robinson, Scott; Rosenfeld, Jill A.; Santos-Simarro, Fernando; Sousa, Sergio B.; Weber, Mathys; Xie, Yili; Chung, Wendy K.; Brown, Natasha J.; Tumer, Zeynep Share Save Share Save Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysisWeston, Kellan P.; Gao, Xiaoyi; Zhao, Jinghan; Kim, Kwang-Soo; Maloney, Susan E.; Gotoff, Jill; Parikh, Sumit; Leu, Yen-Chen; Wu, Kuen-Phon; Shinawi, Marwan; Steimel, Joshua P.; Harrison, Joseph S.; Yi, Jason J. Share Save Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseHikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary-Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Jaman, Nazreen B. Kamarus; Kurian, Manju A.; Morava, Eva; Naess, Karin; Dario Ortigoza-Escobar, Juan; Parikh, Sumit; Pennisi, Alessandra; Barcia, Giulia; Tylleskar, Karin B.; Brackman, Damien; Wortmann, Saskia B.; Taylor, Jenny C.; Bindoff, Laurence A.; Fellman, Vineta; Rahman, Shamima Share Save Share Save DLG4-related synaptopathy: a new rare brain disorderRodriguez-Palmero, Agusti; Boerrigter, Melissa Maria; Gomez-Andres, David; Aldinger, Kimberly A.; Marcos-Alcalde, Inigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V. A.; Bruel, Ange-Line; Challman, Thomas D.; Cogne, Benjamin; Coubes, Christine; de Man, Stella A.; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; Garcia-Minaur, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjorn Ivar; Hoyer, Juliane; Hurst, Anna C. E.; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E.; Leppig, Kathleen A.; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A.; Moghadasi, Setareh; Morton, Jenny E.; Moutton, Sebastien; Mueller, Amelie J.; O'Leary, Melanie; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Pfundt, Rolph; Pode-Shakked, Ben; Rauch, Anita; Repnikova, Elena; Revah-Politi, Anya; Ross, Meredith J.; Ruivenkamp, Claudia A. L.; Sarrazin, Elisabeth; Savatt, Juliann M.; Schlueter, Agatha; Schoenewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; Mau-Them, Frederic Tran; van Bon, Bregje; van de Burgt, Ineke; van de Laar, Ingrid M. B. H.; van Drie, Esmee; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmueller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gomez-Puertas, Paulino; Pujol, Aurora; Tumer, Zeynep Share Save Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremorWebb, Bryn D.; Evans, Anthony; Naidich, Thomas P.; Bird, Lynne M.; Parikh, Sumit; Garcia, Meilin Fernandez; Henderson, Lindsay B.; Millan, Francisca; Si, Yue; Brennand, Kristen J.; Hung, Peter; Rucker, Janet C.; Wheeler, Patricia G.; Schadt, Eric E. Share Save Early-onset phenotype of bi-allelic GRN mutationsNeuray, Caroline; Sultan, Tipu; Alvi, Javeira Raza; Franca, Marcondes C., Jr.; Assmann, Birgit; Wagner, Matias; Canafoglia, Laura; Franceschetti, Silvana; Rossi, Giacomina; Santana, Isabel; Macario, Maria C.; Almeida, Maria R.; Kamate, Mahesh; Parikh, Sumit; Elloumi, Houda Zghal; Murphy, David; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry Share Save 
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