ANTI-FLT-1 ANTIBODIES IN TREATING DUCHENNE MUSCULAR DYSTROPHY FLT-1 von LUBY, Thomas M. TM, JOSIAH, Serene S, CHARNAS, Lawrence L, KEEFE, Dennis D, ASAKURA, Atsushi A

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CNS DELIVERY OF THERAPEUTIC AGENTS CNS von Lawrence CHARNAS L, Thomas MCCAULEY T, Jing PAN J, Jan POWELL J, Zahra SHAHROKH Z, Teresa Leah WRIGHT TL, Pericles CALIAS P, Richard PFEIFER R

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METHODS AND COMPOSITIONS FOR CNS DELIVERY OF ARYLSULFATASE A A CNS von WRIGHT, Teresa Leah TL, CALIAS, Pericles P, SHAHROKH, Zahra Z, TAYLOR, Katherine K, CHARNAS, Lawrence L, CAMPOLIETO, Paul P, PAN, Jing J, SALAMAT-MILLER, Nazila N

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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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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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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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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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Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities von Balciuniene, Jorune, Feng, Ningping, Iyadurai, Kelly, Hirsch, Betsy, Charnas, Lawrence, Bill, Brent R., Easterday, Mathew C., Staaf, Johan, Oseth, LeAnn, Czapansky-Beilman, Desiree, Avramopoulos, Dimitri, Thomas, George H., Borg, Åke, Valle, David, Schimmenti, Lisa A., Selleck, Scott B.

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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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How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration von Furlong, Pat, Bridges, John F P, Charnas, Lawrence, Fallon, Justin R, Fischer, Ryan, Flanigan, Kevin M, Franson, Timothy R, Gulati, Neera, McDonald, Craig, Peay, Holly, Sweeney, H Lee

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Corrigendum to “Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy” [Neuromuscular Disorders, Vol. 30 (6) 2020, 492-502] 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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Effective treatment of α-mannosidosis by allogeneic hematopoietic stem cell transplantation von Grewal, Satkiran S., Shapiro, Elsa G., Krivit, William, Charnas, Lawrence, Lockman, Lawrence A., Delaney, Kathleen A., Davies, Stella M., Wenger, David A., Rimell, Frank L., Abel, Susan, Grovas, Alfred C., Orchard, Paul J., Wagner, John E., Peters, Charles

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Physical mapping and genomic structure of the Lowe syndrome gene OCRL1 von NUSSBAUM, R. L, ORRISON, B. M, JÄNNE, P. A, CHARNAS, L, CHINAULT, A. C

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Outcome of CNS and pulmonary enteroviral infections after hematopoietic cell transplantation von Tan, Poh-Lin, Verneris, Michael R., Charnas, Lawrence R., Reck, Samuel J., van Burik, Jo-Anne H., Blazar, Bruce R.

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Clinical and Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Reference to Growth and Renal Function von Charnas, Lawrence R, Bernardini, Isa, Rader, Daniel, Hoeg, Jeffrey M, Gahl, William A

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Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe von Leahey, Ann-Marie, Charnas, Lawrence R., Nussbaum, Robert L.

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Distal vacuolar myopathy in nephropathic cystinosis von Charnas, Lawrence R., Luciano, Carlos A., Dalakas, Marinos, Gilliatt, Roger W., Bernardini, Isa, Ishak, Kamal, Cwik, Valerie A., Fraker, Douglas, Brushart, Thomas A., Gahl, William A.

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

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

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