Search Results - "Wollmann, Robert L"

LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin by 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.

“…We describe a severe form of congenital myasthenic syndrome (CMS) caused by two heteroallelic mutations: a nonsense and a missense mutation in the gene…”
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Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction by Maselli, Ricardo A., Arredondo, Juan, Cagney, Órla, Ng, Jarae J., Anderson, Jennifer A., Williams, Colette, Gerke, Bae J., Soliven, Betty, Wollmann, Robert L.

“…We describe a severe congenital myasthenic syndrome (CMS) caused by two missense mutations in the gene encoding the muscle specific receptor tyrosine kinase…”
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Synaptic basal lamina-associated congenital myasthenic syndromes by Maselli, Ricardo A., Arredondo, Juan, Ferns, Michael J., Wollmann, Robert L.

“…Proteins associated with the basal lamina (BL) participate in complex signal transduction processes that are essential for the development and maintenance of…”
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Trak1 mutation disrupts GABAA receptor homeostasis in hypertonic mice by 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

“…Hypertonia, which results from motor pathway defects in the central nervous system (CNS), is observed in numerous neurological conditions, including cerebral…”
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Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome by 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

“…The slow-channel myasthenic syndrome (SCS) is a hereditary disorder of the acetylcholine receptor (AChR) of the neuromuscular junction (NMJ) that leads to…”
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Proprioceptive Sensory Neuropathy in Mice with a Mutation in the Cytoplasmic Dynein Heavy Chain 1 Gene by Chen, Xiang-Jun, Levedakou, Eleni N, Millen, Kathleen J, Wollmann, Robert L, Soliven, Betty, Popko, Brian

“…Mice heterozygous for the radiation-induced Sprawling (Swl) mutation display an early-onset sensory neuropathy with muscle spindle deficiency. The lack of an H…”
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Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis by Maselli, Ricardo A., Chen, Darlene, Mo, Delores, Bowe, Constance, Fenton, Grace, Wollmann, Robert L.

“…The myasthenic syndrome due to abnormal acetylcholine resynthesis is characterized by early onset, recessive inheritance, and recurrent episodes of potentially…”
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A Subgenomic Segment of Theiler's Murine Encephalomyelitis Virus RNA Causes Demyelination by BAIDA, Gleb, POPKO, Brian, WOLLMANN, Robert L, STAVROU, Spyridon, WENSHENG LIN, TRETIAKOVA, Maria, KRAUSZ, Thomas N, ROOS, Raymond P

“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Nur7 Is a Nonsense Mutation in the Mouse Aspartoacylase Gene That Causes Spongy Degeneration of the CNS by Traka, Maria, Wollmann, Robert L, Cerda, Sonia R, Dugas, Jason, Barres, Ben A, Popko, Brian

“…Aspartoacylase (ASPA) is an oligodendrocyte-restricted enzyme that catalyzes the hydrolysis of neuronally derived N-acetylaspartate (NAA) to acetate and…”
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Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering by Maselli, Ricardo A., Dunne, Vanessa, Pascual-Pascual, Samuel Ignacio, Bowe, Constance, Agius, Mark, Frank, Rochelle, Wollmann, Robert L.

“…Rapsyn, a 43‐kDa postsynaptic protein, is essential for anchoring and clustering acetylcholine receptors (AChRs) at the endplate (EP). Mutations in the rapsyn…”
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Activation of apoptotic pathways at muscle fiber synapses is circumscribed and reversible in a slow-channel syndrome model by Vohra, Bhupinder P.S., Groshong, Jason S., Zayas, Roberto, Wollmann, Robert L., Gomez, Christopher M.

“…In the slow-channel syndrome (SCS) mutant acetylcholine receptors elicit calcium overload and myonuclear degeneration at the neuromuscular junction (NMJ),…”
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Slow-Channel Transgenic Mice: A Model of Postsynaptic Organellar Degeneration at the Neuromuscular Junction by Gomez, Christopher M, Maselli, Ricardo, Gundeck, Jo Ellen, Chao, Mary, Day, John W, Tamamizu, Shiori, Lasalde, Jose A, McNamee, Mark, Wollmann, Robert L

“…The slow-channel congenital myasthenic syndrome (SCCMS) is a dominantly inherited disorder of neuromuscular transmission characterized by delayed closure of…”
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Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A by Maselli, Ricardo A., Vázquez, Jessica, Schrumpf, Leah, Arredondo, Juan, Lara, Marian, Strober, Jonathan B., Pytel, Peter, Wollmann, Robert L., Ferns, Michael

“…Background Monogenic defects of synaptic vesicle (SV) homeostasis have been implicated in many neurologic diseases, including autism, epilepsy, and movement…”
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Variable phenotypes associated with mutations in DOK7 by Anderson, Jennifer A., Ng, Jarae J., Bowe, Constance, Mcdonald, Craig, Richman, David P., Wollmann, Robert L., Maselli, Ricardo A.

“…Many patients with the limb‐girdle variant of congenital myasthenic syndrome (CMS) possess mutations in the human Dok‐7 gene (DOK7). We identified six…”
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A 59 YEAR-OLD MAN WITH SELLAR LESION by Sargis, Robert M., Wollmann, Robert L., Pytel, Peter

“…A 59 year-old man presented with a large sellar mass. Pathologic examination revealed a tumor with two distinct cell populations. The majority of the tumor…”
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Six-week-old With Fever and Fussiness by Humikowski, Catherine A, Qureshi, Nadia, Montgomery, Christopher P, Wollmann, Robert L, Daum, Robert S

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Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH 3A by Maselli, Ricardo A., Vázquez, Jessica, Schrumpf, Leah, Arredondo, Juan, Lara, Marian, Strober, Jonathan B., Pytel, Peter, Wollmann, Robert L., Ferns, Michael

“…Abstract Background Monogenic defects of synaptic vesicle ( SV ) homeostasis have been implicated in many neurologic diseases, including autism, epilepsy, and…”
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Focal caspase activation underlies the endplate myopathy in slow-channel syndrome by Vohra, Bhupinder P. S., Groshong, Jason S., Maselli, Ricardo A., Verity, M. Anthony, Wollmann, Robert L., Gomez, Christopher M.

“…Slow‐channel syndrome (SCS) is a progressive neuromuscular disorder caused by abnormal gating of mutant acetylcholine receptors (AChRs) in the neuromuscular…”
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Degenerative spine disease : Pathologic findings in 985 surgical specimens by PYTEL, Peter, WOLLMANN, Robert L, FESSLER, Richard G, KRAUSZ, Thomas N, MONTAG, Anthony G

“…A number of pathologic changes have been reported in spinal surgery specimens. The frequency of many of these is not well defined. We retrospectively reviewed…”
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Active Calcium Accumulation Underlies Severe Weakness in a Panel of Mice with Slow-Channel Syndrome by Gomez, Christopher M, Maselli, Ricardo A, Groshong, Jason, Zayas, Roberto, Wollmann, Robert L, Cens, Thierry, Charnet, Pierre

“…Mutations affecting the gating and channel properties of ionotropic neurotransmitter receptors in some hereditary epilepsies, in familial hyperekplexia, and…”
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