Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999
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
Published in Blood (01.08.2004)
Published in Blood (01.08.2004)
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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
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
Published in Nature genetics (01.09.2008)
Published in Nature genetics (01.09.2008)
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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
McClelland, 3rd, Shearwood, Charnas, Lawrence R, SantaCruz, Karen S, Garner, Hart P, Lam, Cornelius H
Published in Journal of neurosurgery (01.12.2007)
Published in Journal of neurosurgery (01.12.2007)
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Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
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
Published in Nature genetics (01.11.1994)
Published in Nature genetics (01.11.1994)
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Clinical and Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Reference to Growth and Renal Function
Charnas, Lawrence R, Bernardini, Isa, Rader, Daniel, Hoeg, Jeffrey M, Gahl, William A
Published in The New England journal of medicine (09.05.1991)
Published in The New England journal of medicine (09.05.1991)
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Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis
GAHL, W. A, BERNARDINI, I. M, DALAKAS, M. C, MARKELLO, T. C, KRASNEWICH, D. M, CHARNAS, L. R
Published in Pediatric research (01.08.1993)
Published in Pediatric research (01.08.1993)
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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
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
Published in Nature genetics (01.11.2008)
Published in Nature genetics (01.11.2008)
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Journal Article
Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
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
Published in Nature genetics (01.11.2008)
Published in Nature genetics (01.11.2008)
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Journal Article
Cerebral X-Linked Adrenoleukodystrophy: The University of Minnesota Hematopoietic Cell Transplantation Experience from 1991 to 2004
Peters, Charles, Charnas, Lawrence R., DeFor, Todd, Shapiro, Elsa G., Grewal, Satkiran S., Orchard, Paul J., Abel, Susan L., Ramsay, Norma K.C., Dusenbery, Kathryn E., Loes, Daniel J., Lockman, Lawrence A., Krivit, William
Published in Blood (16.11.2004)
Published in Blood (16.11.2004)
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Journal Article
Distal vacuolar myopathy in nephropathic cystinosis
Charnas, L R, Luciano, C A, Dalakas, M, Gilliatt, R W, Bernardini, I, Ishak, K, Cwik, V A, Fraker, D, Brushart, T A, Gahl, W A
Published in Annals of neurology (01.02.1994)
Published in Annals of neurology (01.02.1994)
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Myalgia and elevated creatine kinase activity associated with subcutaneous injections of diluent
Bach, Mark A., Blum, Donna M., Rose, Susan R., Charnas, Lawrence R.
Published in The Journal of pediatrics (01.10.1992)
Published in The Journal of pediatrics (01.10.1992)
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Journal Article
Schwann cell proliferation and migration during paranodal demyelination
Griffin, JW, Drucker, N, Gold, BG, Rosenfeld, J, Benzaquen, M, Charnas, LR, Fahnestock, KE, Stocks, EA
Published in The Journal of neuroscience (01.03.1987)
Published in The Journal of neuroscience (01.03.1987)
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