LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin
Maselli, Ricardo A., Fernandez, Jose M., Arredondo, Juan, Navarro, Carmen, Ngo, Maian, Beeson, David, Cagney, Órla, Williams, D. Colette, Wollmann, Robert L., Yarov-Yarovoy, Vladimir, Ferns, Michael J.
Published in Human genetics (01.07.2012)
Published in Human genetics (01.07.2012)
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Journal Article
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction
Maselli, Ricardo A., Arredondo, Juan, Cagney, Órla, Ng, Jarae J., Anderson, Jennifer A., Williams, Colette, Gerke, Bae J., Soliven, Betty, Wollmann, Robert L.
Published in Human molecular genetics (15.06.2010)
Published in Human molecular genetics (15.06.2010)
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Journal Article
Synaptic basal lamina-associated congenital myasthenic syndromes
Maselli, Ricardo A., Arredondo, Juan, Ferns, Michael J., Wollmann, Robert L.
Published in Annals of the New York Academy of Sciences (01.12.2012)
Published in Annals of the New York Academy of Sciences (01.12.2012)
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Journal Article
Trak1 mutation disrupts GABAA receptor homeostasis in hypertonic mice
GILBERT, Sandra L, LI ZHANG, LAHN, Bruce T, FORSTER, Michele L, IWASE, Tamaki, SOLIVEN, Betty, DONAHUE, Leah Rae, SWEET, Hope O, BRONSON, Roderick T, DAVISSON, Muriel T, WOLLMANN, Robert L
Published in Nature genetics (01.02.2006)
Published in Nature genetics (01.02.2006)
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Journal Article
Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome
Groshong, Jason S, Spencer, Melissa J, Bhattacharyya, Bula J, Kudryashova, Elena, Vohra, Bhupinder P S, Zayas, Roberto, Wollmann, Robert L, Miller, Richard J, Gomez, Christopher M
Published in The Journal of clinical investigation (01.10.2007)
Published in The Journal of clinical investigation (01.10.2007)
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Journal Article
Activation of apoptotic pathways at muscle fiber synapses is circumscribed and reversible in a slow-channel syndrome model
Vohra, Bhupinder P.S., Groshong, Jason S., Zayas, Roberto, Wollmann, Robert L., Gomez, Christopher M.
Published in Neurobiology of disease (01.08.2006)
Published in Neurobiology of disease (01.08.2006)
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Journal Article
Slow-Channel Transgenic Mice: A Model of Postsynaptic Organellar Degeneration at the Neuromuscular Junction
Gomez, Christopher M, Maselli, Ricardo, Gundeck, Jo Ellen, Chao, Mary, Day, John W, Tamamizu, Shiori, Lasalde, Jose A, McNamee, Mark, Wollmann, Robert L
Published in The Journal of neuroscience (01.06.1997)
Published in The Journal of neuroscience (01.06.1997)
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Journal Article
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A
Maselli, Ricardo A., Vázquez, Jessica, Schrumpf, Leah, Arredondo, Juan, Lara, Marian, Strober, Jonathan B., Pytel, Peter, Wollmann, Robert L., Ferns, Michael
Published in Molecular genetics & genomic medicine (01.05.2018)
Published in Molecular genetics & genomic medicine (01.05.2018)
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Journal Article
Variable phenotypes associated with mutations in DOK7
Anderson, Jennifer A., Ng, Jarae J., Bowe, Constance, Mcdonald, Craig, Richman, David P., Wollmann, Robert L., Maselli, Ricardo A.
Published in Muscle & nerve (01.04.2008)
Published in Muscle & nerve (01.04.2008)
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Journal Article
A 59 YEAR-OLD MAN WITH SELLAR LESION
Sargis, Robert M., Wollmann, Robert L., Pytel, Peter
Published in Brain pathology (Zurich, Switzerland) (01.01.2009)
Published in Brain pathology (Zurich, Switzerland) (01.01.2009)
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Journal Article
Six-week-old with fever and fussiness
Humikowski, Catherine A, Qureshi, Nadia, Montgomery, Christopher P, Wollmann, Robert L, Daum, Robert S
Published in The Pediatric infectious disease journal (01.05.2012)
Published in The Pediatric infectious disease journal (01.05.2012)
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Journal Article
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH 3A
Maselli, Ricardo A., Vázquez, Jessica, Schrumpf, Leah, Arredondo, Juan, Lara, Marian, Strober, Jonathan B., Pytel, Peter, Wollmann, Robert L., Ferns, Michael
Published in Molecular genetics & genomic medicine (01.05.2018)
Published in Molecular genetics & genomic medicine (01.05.2018)
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Journal Article
Degenerative spine disease : Pathologic findings in 985 surgical specimens
PYTEL, Peter, WOLLMANN, Robert L, FESSLER, Richard G, KRAUSZ, Thomas N, MONTAG, Anthony G
Published in American journal of clinical pathology (01.02.2006)
Published in American journal of clinical pathology (01.02.2006)
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Journal Article
Active Calcium Accumulation Underlies Severe Weakness in a Panel of Mice with Slow-Channel Syndrome
Gomez, Christopher M, Maselli, Ricardo A, Groshong, Jason, Zayas, Roberto, Wollmann, Robert L, Cens, Thierry, Charnet, Pierre
Published in The Journal of neuroscience (01.08.2002)
Published in The Journal of neuroscience (01.08.2002)
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