Genetic and clinical heterogeneity in eIF2B-related disorder
Maletkovic, Jelena, Schiffmann, Raphael, Gorospe, J Rafael, Gordon, Erynn S, Mintz, Michelle, Hoffman, Eric P, Alper, Gulay, Lynch, David R, Singhal, Bhim S, Harding, Cary, Amartino, Hernan, Brown, Candida M, Chan, Alicia, Renaud, Deborah, Geraghty, Michael, Jensen, Lloyd, Senbil, Nesrin, Kadom, Nadja, Nazarian, Javad, Yuanjian Feng, Zuyi Wang, Hartka, Thomas, Morizono, Hiroki, Vanderver, Adeline
Published in Journal of child neurology (01.02.2008)
Published in Journal of child neurology (01.02.2008)
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Journal Article
Propensity for paternal inheritance of de novo mutations in Alexander disease
RONG LI, JOHNSON, Anne B, SALOMONS, Gajja S, VAN DER KNAAP, Marjo S, RODRIGUEZ, Diana, BOESPFLUG-TANGUY, Odile, GOROSPE, J. Rafael, GOLDMAN, James E, MESSING, Albee, BRENNER, Michael
Published in Human genetics (01.03.2006)
Published in Human genetics (01.03.2006)
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Journal Article
Long-acting HIV Treatments: Study Design, Logistics, and Access
Murdock, Nicholas A, Alajaji, Nayri E, Schaefer, Robin, Boone, Cheriko A, Campo, Rafael E, Dore, Gregory J, Gandhi, Monica, Gorospe, J Rafael, Gulick, Roy M, Hodder, Sally L, Liu, Jonathan, Rhee, Martin S, Rooney, James F, Vannappagari, Vani, Wilkin, Timothy, Miller, Veronica
Published in Open forum infectious diseases (01.07.2024)
Published in Open forum infectious diseases (01.07.2024)
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Journal Article
Definition of the unique human extraocular muscle allotype by expression profiling
Fischer, M. Dominik, Budak, Murat T, Bakay, Marina, Gorospe, J. Rafael, Kjellgren, D, Pedrosa-Domellof, F, Hoffman, Eric P, Khurana, Tejvir S
Published in Physiological genomics (11.08.2005)
Published in Physiological genomics (11.08.2005)
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Journal Article
Megalencephalic leukoencephalopathy with subcortical cysts
Singhal, Bhim S, Gorospe, J Rafael, Naidu, Sakkubai
Published in Journal of child neurology (01.09.2003)
Published in Journal of child neurology (01.09.2003)
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Journal Article
Expression profiling reveals metabolic and structural components of extraocular muscles
Fischer, M. Dominik, Gorospe, J. Rafael, Felder, Edward, Bogdanovich, Sasha, Pedrosa-Domellof, F, Ahima, Rexford S, Rubinstein, Neal A, Hoffman, Eric P, Khurana, Tejvir S
Published in Physiological genomics (2002)
Published in Physiological genomics (2002)
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Journal Article
Mutations in the Sarcoglycan Genes in Patients with Myopathy
Duggan, David J, Gorospe, J. Rafael, Fanin, Marina, Hoffman, Eric P, Angelini, Corrado, Pegoraro, E, Noguchi, S, Ozawa, E, Pendlebury, W, Waclawik, A.J, Duenas, D.A, Hausmanowa-Petrusewicz, I, Fidzianska, A, Bean, S.C, Haller, J.S, Bodensteiner, J, Greco, C.M, Pestronk, A, Berardinelli, A, Gelinas, D.F, Abram, H, Kuncl, R.W
Published in The New England journal of medicine (27.02.1997)
Published in The New England journal of medicine (27.02.1997)
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Journal Article
Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy
McNally, Elizabeth M., Duggan, David, Rafael Gorospe, J., Bönnemann, Carsten G., Fanin, Marina, Pegoraro, Elena, Lidov, Hart G. W., Noguchi, Satoru, Ozawa, Eijiro, Finkel, Richard S., Cruse, Robert P., Angelini, Corrado, Kunkel, Louis M., Hoffman, Eric P.
Published in Human molecular genetics (01.11.1996)
Published in Human molecular genetics (01.11.1996)
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Journal Article
A Potential Role for Mast Cells in the of bFGF From Normal Myocytes During Angiogenesis In Vivo
Walgenbach, Klaus J., Gorospe, J. Rafael, Gratas, Catherine, Brunagel, Gisela, Hoffman, Eric P., Shestak, Kenneth C.
Published in Journal of investigative surgery (01.01.2002)
Published in Journal of investigative surgery (01.01.2002)
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Journal Article
Decreased Platelet Expression of MYL9 (Myosin Regulatory Light Chain Polypeptide) and Other Genes with Platelets Dysfunction and CBFA2 Mutation: Insights from Platelet Expression Profiling
Sun, Liansheng, Gorospe, J. Rafael, Hoffman, Eric P., Rao, A. Koneti
Published in Blood (16.11.2004)
Published in Blood (16.11.2004)
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Journal Article
Selective loss of sarcolemmal nitric oxide synthase in Becker muscular dystrophy
Chao, D S, Gorospe, J R, Brenman, J E, Rafael, J A, Peters, M F, Froehner, S C, Hoffman, E P, Chamberlain, J S, Bredt, D S
Published in The Journal of experimental medicine (01.08.1996)
Published in The Journal of experimental medicine (01.08.1996)
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Journal Article
A role for mast cells in the progression of Duchenne muscular dystrophy?: Correlations in dystrophin-deficient humans, dogs, and mice
Gorospe, J.Rafael M., Tharp, Michael D., Hinckley, John, Kornegay, Joe N., Hoffman, Eric P.
Published in Journal of the neurological sciences (01.03.1994)
Published in Journal of the neurological sciences (01.03.1994)
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Journal Article
Recruitment of mast cells to muscle after mild damage
Gorospe, J.Rafael M., Nishikawa, Bronwen K., Hoffman, Eric P.
Published in Journal of the neurological sciences (1996)
Published in Journal of the neurological sciences (1996)
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Journal Article
Dystrophin-deficient myofibers are vulnerable to mast cell granule-induced necrosis
Gorospe, J.Rafael M., Tharp, Michael, Demitsu, Toshio, Hoffman, Eric P.
Published in Neuromuscular disorders : NMD (01.07.1994)
Published in Neuromuscular disorders : NMD (01.07.1994)
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Journal Article
Phospholipase A2 activity in dystrophinopathies
Lindahl, M, Bäckman, E, Henriksson, K G, Gorospe, J R, Hoffman, E P
Published in Neuromuscular disorders : NMD (01.05.1995)
Published in Neuromuscular disorders : NMD (01.05.1995)
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Journal Article
Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts : Leukodystrophies arising from astrocyte dysfunction: White matter disorders
RAFAEL GOROSPE, J, MALETKOVIC, Jelena
Published in Mental retardation and developmental disabilities research reviews (2006)
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Published in Mental retardation and developmental disabilities research reviews (2006)
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