Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome
Maselli, R A, Ng, J J, Anderson, J A, Cagney, O, Arredondo, J, Williams, C, Wessel, H B, Abdel-Hamid, H, Wollmann, R L
Published in Journal of medical genetics (01.03.2009)
Published in Journal of medical genetics (01.03.2009)
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Journal Article
Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE
Maselli, RA, Arredondo, J, Cagney, O, Mozaffar, T, Skinner, S, Yousif, S, Davis, RR, Gregg, JP, Sivak, M, Konia, TH, Thomas, K, Wollmann, RL
Published in Clinical genetics (01.11.2011)
Published in Clinical genetics (01.11.2011)
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Journal Article
Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia
Maselli, R.A., Arredondo, J., Nguyen, J., Lara, M., Ng, F., Ngo, M., Pham, J.M., Yi, Q., Stajich, J.M., McDonald, K., Hauser, M.A., Wollmann, R.L.
Published in Clinical genetics (01.02.2014)
Published in Clinical genetics (01.02.2014)
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Journal Article
Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2
Maselli, R A, Wan, J, Dunne, V, Graves, M, Baloh, R W, Wollmann, R L, Jen, J
Published in Neurology (23.12.2003)
Published in Neurology (23.12.2003)
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Journal Article
Presynaptic congenital myasthenic syndrome due to quantal release deficiency
Maselli, R A, Kong, D Z, Bowe, C M, McDonald, C M, Ellis, W G, Agius, M A, Gomez, C M, Richman, D P, Wollmann, R L
Published in Neurology (24.07.2001)
Published in Neurology (24.07.2001)
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Journal Article
A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation
O'Connor, S E, Kwiatkowski, D J, Roberts, P S, Wollmann, R L, Huttenlocher, P R
Published in Neurology (12.08.2003)
Published in Neurology (12.08.2003)
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Journal Article
Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations
Maselli, RA, Dris, H, Schnier, J, Cockrell, JL, Wollmann, RL
Published in Clinical genetics (01.07.2007)
Published in Clinical genetics (01.07.2007)
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Journal Article
Clinical and genetic studies of fatal familial insomnia
Reder, A T, Mednick, A S, Brown, P, Spire, J P, Van Cauter, E, Wollmann, R L, Cervenàkovà, L, Goldfarb, L G, Garay, A, Ovsiew, F
Published in Neurology (01.06.1995)
Published in Neurology (01.06.1995)
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Journal Article
Disseminated histoplasmosis in an infant with acquired immunodeficiency syndrome
Wang, H., Abrahams, C., Hart, J., Johnson, D., Wollmann, R.L.
Published in The Journal of infection (01.11.1998)
Published in The Journal of infection (01.11.1998)
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Journal Article
Cluster of wound botulism in California: Clinical, electrophysiologic, and pathologic study
Maselli, Ricardo A., Ellis, William, Mandler, Raul N., Sheikh, Firdos, Venton, Grace, Knox, Stephen, Salari-Namin, Hamid, Agius, Mark, Wollmann, Robert L., Richman, David P.
Published in Muscle & nerve (01.10.1997)
Published in Muscle & nerve (01.10.1997)
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Journal Article
γ-Sarcoglycan Deficiency Leads to Muscle Membrane Defects and Apoptosis Independent of Dystrophin
Hack, Andrew A., Ly, Chantal T., Jiang, Fang, Clendenin, Cynthia J., Sigrist, Kirsten S., Wollmann, Robert L., McNally, Elizabeth M.
Published in The Journal of cell biology (07.09.1998)
Published in The Journal of cell biology (07.09.1998)
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Journal Article
Late Denervation in Patients with Antecedent Paralytic Poliomyelitis
Cashman, Neil R, Maselli, Ricardo, Wollmann, Robert L, Roos, Raymond, Simon, Roberta, Antel, Jack P
Published in The New England journal of medicine (02.07.1987)
Published in The New England journal of medicine (02.07.1987)
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Journal Article
The human-severe combined immunodeficiency myasthenic mouse model: a new approach for the study of myasthenia gravis
Martino, G, DuPont, B L, Wollmann, R L, Bongioanni, P, Anastasi, J, Quintans, J, Arnason, B G, Grimaldi, L M
Published in Annals of neurology (01.07.1993)
Published in Annals of neurology (01.07.1993)
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Journal Article
The Clinical Significance of Extracellular Matrix in Gangliogliomas
Jaffey, Pamela B, Mundt, Arno J, Baunoch, David A, Armstrong, Dawna L, Hamilton, Winifred J, Zagaja, Virginia G, Grossman, Robert G, Wollmann, Robert L
Published in Journal of neuropathology and experimental neurology (01.12.1996)
Published in Journal of neuropathology and experimental neurology (01.12.1996)
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Journal Article
Sympathectomy augments adoptively transferred experimental allergic encephalomyelitis
Chelmicka-Schorr, Ewa, Kwasniewski, Michael N., Wollmann, Robert L.
Published in Journal of neuroimmunology (01.03.1992)
Published in Journal of neuroimmunology (01.03.1992)
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Journal Article