Nirmatrelvir-Ritonavir and Symptoms in Adults With Postacute Sequelae of SARS-CoV-2 Infection: The STOP-PASC Randomized Clinical Trial von Geng, Linda N, Bonilla, Hector, Hedlin, Haley, Jacobson, Karen B, Tian, Lu, Jagannathan, Prasanna, Yang, Phillip C, Subramanian, Aruna K, Liang, Jane W, Shen, Sa, Deng, Yaowei, Shaw, Blake J, Botzheim, Bren, Desai, Manisha, Pathak, Divya, Jazayeri, Yasmin, Thai, Daniel, O’Donnell, Andrew, Mohaptra, Sukanya, Leang, Zenita, Reynolds, Gabriella Z. M, Brooks, Erin F, Bhatt, Ami S, Shafer, Robert W, Miglis, Mitchell G, Quach, Tom, Tiwari, Anushri, Banerjee, Anindita, Lopez, Rene N, De Jesus, Magdia, Charnas, Lawrence R, Utz, Paul J, Singh, Upinder

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Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy von Sherlock, Sarah P., Palmer, Jeffrey, Wagner, Kathryn R., Abdel-Hamid, Hoda Z., Tian, Cuixia, Mah, Jean K., Muntoni, Francesco, Guglieri, Michela, Butterfield, Russell J., Charnas, Lawrence, Marraffino, Shannon

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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum von Chizhikov, Victor V, Uyanik, Gökhan, Kuechler, Alma, Kutsche, Kerstin, Flubacher, Armin, Charnas, Lawrence R, Golden, Jeffrey A, Haas, Carola A, Frank, Ulrich, Ullmann, Reinhard, Klopocki, Eva, Dobyns, William B, Sudi, Jyotsna, Wimplinger, Isabella, Christian, Susan L, Horn, Denise, Najm, Juliane

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Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy von Wagner, Kathryn R., Abdel-Hamid, Hoda Z., Mah, Jean K., Campbell, Craig, Guglieri, Michela, Muntoni, Francesco, Takeshima, Yasuhiro, McDonald, Craig M., Kostera-Pruszczyk, Anna, Karachunski, Peter, Butterfield, Russell J., Mercuri, Eugenio, Fiorillo, Chiara, Bertini, Enrico S., Tian, Cuixia, Statland, Jeffery, Sadosky, Alesia B., Purohit, Vivek S., Sherlock, Sarah P., Palmer, Jeffrey P., Binks, Michael, Charnas, Lawrence, Marraffino, Shannon, Wong, Brenda L.

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Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial von Muntoni, Francesco, Guglieri, Michela, Mah, Jean K., Wagner, Kathryn R., Brandsema, John F., Butterfield, Russell J., McDonald, Craig M., Mayhew, Anna G., Palmer, Jeffrey P., Marraffino, Shannon, Charnas, Lawrence, Mercuri, Eugenio

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Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999 von Peters, Charles, Charnas, Lawrence R., Tan, Ye, Ziegler, Richard S., Shapiro, Elsa G., DeFor, Todd, Grewal, Satkiran S., Orchard, Paul J., Abel, Susan L., Goldman, Anne I., Ramsay, Norma K.C., Dusenbery, Kathryn E., Loes, Daniel J., Lockman, Lawrence A., Kato, Shunichi, Aubourg, Patrick R., Moser, Hugo W., Krivit, William

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Current state of cardiac troponin testing in Duchenne muscular dystrophy cardiomyopathy: review and recommendations from the Parent Project Muscular Dystrophy expert panel von Spurney, Christopher F, Ascheim, Deborah, Charnas, Lawrence, Cripe, Linda, Hor, Kan, King, Nicholas, Kinnett, Kathi, McNally, Elizabeth M, Sauer, John-Michael, Sweeney, Lee, Villa, Chet, Markham, Larry W

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Hematopoietic Cell Therapy for Metabolic Disease von Orchard, Paul J., MD, Blazar, Bruce R., MD, Wagner, John, MD, Charnas, Lawrence, MD, PhD, Krivit, William, MD, PhD, Tolar, Jakub, MD, PhD

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Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 von Jabs, Ethylin Wang, Li, Xiang, Scott, Alan F, Meyers, Gregory, Chen, Wendy, Eccles, Michael, Mao, Jen-i, Charnas, Lawrence R, Jackson, Charles E, Jaye, Michael

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Progressive brainstem compression in an infant with neurocutaneous melanosis and Dandy-Walker complex following ventriculoperitoneal shunt placement for hydrocephalus. Case report von McClelland, 3rd, Shearwood, Charnas, Lawrence R, SantaCruz, Karen S, Garner, Hart P, Lam, Cornelius H

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Severe Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: A Case Report of Nonclassical Homocystinuria von Bishop, Lisa, Kanoff, Richard, Charnas, Lawrence, Krenzel, Charles, Berry, Susan A., Schimmenti, Lisa A.

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Novel approaches to analysis of the North Star Ambulatory Assessment von Muntoni, Francesco, Guglieri, Michela, Mah, Jean K, Wagner, Kathryn R, Brandsema, John F, Butterfield, Russell J, McDonald, Craig M, Mayhew, Anna G, Palmer, Jeffrey P, Marraffino, Shannon, Charnas, Lawrence, Mercuri, Eugenio

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Novel approaches to analysis of the North Star Ambulatory Assessment : Observations from a phase 2 trial von Muntoni, Francesco, Guglieri, Michela, Mah, Jean K, Wagner, Kathryn R, Brandsema, John F, Butterfield, Russell J, McDonald, Craig M, Mayhew, Anna G, Palmer, Jeffrey P, Marraffino, Shannon, Charnas, Lawrence, Mercuri, Eugenio

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Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab von Sherlock, Sarah P., Palmer, Jeffrey, Wagner, Kathryn R., Abdel-Hamid, Hoda Z., Bertini, Enrico, Tian, Cuixia, Mah, Jean K., Kostera-Pruszczyk, Anna, Muntoni, Francesco, Guglieri, Michela, Brandsema, John F., Mercuri, Eugenio, Butterfield, Russell J., McDonald, Craig M., Charnas, Lawrence, Marraffino, Shannon

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The PAX LC Trial: A Decentralized, Phase 2, Randomized, Double-Blind Study of Nirmatrelvir/Ritonavir Compared with Placebo/Ritonavir for Long COVID von Krumholz, Harlan M., Sawano, Mitsuaki, Bhattacharjee, Bornali, Caraballo, César, Khera, Rohan, Li, Shu-Xia, Herrin, Jeph, Coppi, Andreas, Holub, Julie, Henriquez, Yashira, Johnson, Maria A., Goddard, Theresa B., Rocco, Erica, Hummel, Amy C., AL Mouslmani, Mohammad, Putrino, David F., Carr, Kevin D., Carvajal-Gonzalez, Santos, Charnas, Lawrence, De Jesus, Magdia, Ziegler, Frank W., Iwasaki, Akiko

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Individualized Prediction of Changes in 6-Minute Walk Distance for Patients with Duchenne Muscular Dystrophy von Goemans, Nathalie, Vanden Hauwe, Marleen, Signorovitch, James, Swallow, Elyse, Song, Jinlin

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Intrathecal Gene Therapy for Giant Axonal Neuropathy von Bharucha-Goebel, Diana X., Todd, Joshua J., Saade, Dimah, Norato, Gina, Jain, Minal, Lehky, Tanya, Bailey, Rachel M., Chichester, Jessica A., Calcedo, Roberto, Armao, Diane, Foley, A. Reghan, Mohassel, Payam, Tesfaye, Eshetu, Carlin, Bradley P., Seremula, Beth, Waite, Melissa, Zein, Wadih M., Huryn, Laryssa A., Crawford, Thomas O., Sumner, Charlotte J., Hoke, Ahmet, Heiss, John D., Charnas, Lawrence, Hooper, Jody E., Bouldin, Thomas W., Kang, Elizabeth M., Rybin, Denis, Gray, Steven J., Bönnemann, Carsten G.

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16. Serum biomarkers and clinical effect of off-label use of miglustat in GM1 gangliosidosis von Charnas, Lawrence

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Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia von Stitziel, Nathan O, Fouchier, Sigrid W, Sjouke, Barbara, Peloso, Gina M, Moscoso, Alessa M, Auer, Paul L, Goel, Anuj, Gigante, Bruna, Barnes, Timothy A, Melander, Olle, Orho-Melander, Marju, Duga, Stefano, Sivapalaratnam, Suthesh, Nikpay, Majid, Martinelli, Nicola, Girelli, Domenico, Jackson, Rebecca D, Kooperberg, Charles, Lange, Leslie A, Ardissino, Diego, McPherson, Ruth, Farrall, Martin, Watkins, Hugh, Reilly, Muredach P, Rader, Daniel J, de Faire, Ulf, Schunkert, Heribert, Erdmann, Jeanette, Samani, Nilesh J, Charnas, Lawrence, Altshuler, David, Gabriel, Stacey, Kastelein, John J.P, Defesche, Joep C, Nederveen, Aart J, Kathiresan, Sekar, Hovingh, G Kees

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Safety and disease monitoring biomarkers in Duchenne muscular dystrophy: results from a Phase II trial von Wagner, Kathryn R., Guglieri, Michaela, Ramaiah, Shashi K., Charnas, Lawrence, Marraffino, Shannon, Binks, Michael, Vaidya, Vishal S., Palmer, Jeffrey, Goldstein, Richard, Muntoni, Francesco

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