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Items: 1 to 50 of 71

1.

Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A.

Maselli RA, Vázquez J, Schrumpf L, Arredondo J, Lara M, Strober JB, Pytel P, Wollmann RL, Ferns M.

Mol Genet Genomic Med. 2018 May;6(3):434-440. doi: 10.1002/mgg3.370. Epub 2018 Feb 14.

2.

Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.

Maselli RA, Arredondo J, Nguyen J, Lara M, Ng F, Ngo M, Pham JM, Yi Q, Stajich JM, McDonald K, Hauser MA, Wollmann RL.

Clin Genet. 2014 Feb;85(2):166-71. doi: 10.1111/cge.12118. Epub 2013 Mar 11.

PMID:
23488891
3.

Synaptic basal lamina-associated congenital myasthenic syndromes.

Maselli RA, Arredondo J, Ferns MJ, Wollmann RL.

Ann N Y Acad Sci. 2012 Dec;1275:36-48. doi: 10.1111/j.1749-6632.2012.06807.x. Review.

PMID:
23278576
4.

Six-week-old with fever and fussiness.

Humikowski CA, Qureshi N, Montgomery CP, Wollmann RL, Daum RS.

Pediatr Infect Dis J. 2012 May;31(5):538, 544. doi: 10.1097/INF.0b013e3182490a58. No abstract available.

PMID:
22510993
5.

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

Maselli RA, Fernandez JM, Arredondo J, Navarro C, Ngo M, Beeson D, Cagney O, Williams DC, Wollmann RL, Yarov-Yarovoy V, Ferns MJ.

Hum Genet. 2012 Jul;131(7):1123-35. doi: 10.1007/s00439-011-1132-4. Epub 2011 Dec 29.

6.

Acute severe animal model of anti-muscle-specific kinase myasthenia: combined postsynaptic and presynaptic changes.

Richman DP, Nishi K, Morell SW, Chang JM, Ferns MJ, Wollmann RL, Maselli RA, Schnier J, Agius MA.

Arch Neurol. 2012 Apr;69(4):453-60. doi: 10.1001/archneurol.2011.2200. Epub 2011 Dec 12.

7.

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.

Clin Genet. 2011 Nov;80(5):444-51. doi: 10.1111/j.1399-0004.2010.01602.x. Epub 2010 Dec 22.

PMID:
21175599
8.

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

Maselli RA, Arredondo J, Cagney O, Ng JJ, Anderson JA, Williams C, Gerke BJ, Soliven B, Wollmann RL.

Hum Mol Genet. 2010 Jun 15;19(12):2370-9. doi: 10.1093/hmg/ddq110. Epub 2010 Apr 6.

9.

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.

Maselli RA, Ng JJ, Anderson JA, Cagney O, Arredondo J, Williams C, Wessel HB, Abdel-Hamid H, Wollmann RL.

J Med Genet. 2009 Mar;46(3):203-8. doi: 10.1136/jmg.2008.063693.

10.

A 59 year-old man with sellar lesion.

Sargis RM, Wollmann RL, Pytel P.

Brain Pathol. 2009 Jan;19(1):161-2. doi: 10.1111/j.1750-3639.2008.00240.x.

PMID:
19076783
11.

Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS.

Traka M, Wollmann RL, Cerda SR, Dugas J, Barres BA, Popko B.

J Neurosci. 2008 Nov 5;28(45):11537-49. doi: 10.1523/JNEUROSCI.1490-08.2008.

12.

A subgenomic segment of Theiler's murine encephalomyelitis virus RNA causes demyelination.

Baida G, Popko B, Wollmann RL, Stavrou S, Lin W, Tretiakova M, Krausz TN, Roos RP.

J Virol. 2008 Jun;82(12):5879-86. doi: 10.1128/JVI.02432-07. Epub 2008 Apr 9.

13.

Variable phenotypes associated with mutations in DOK7.

Anderson JA, Ng JJ, Bowe C, McDonald C, Richman DP, Wollmann RL, Maselli RA.

Muscle Nerve. 2008 Apr;37(4):448-56.

PMID:
18161030
14.

Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic Dynein heavy chain 1 gene.

Chen XJ, Levedakou EN, Millen KJ, Wollmann RL, Soliven B, Popko B.

J Neurosci. 2007 Dec 26;27(52):14515-24.

15.

Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome.

Groshong JS, Spencer MJ, Bhattacharyya BJ, Kudryashova E, Vohra BP, Zayas R, Wollmann RL, Miller RJ, Gomez CM.

J Clin Invest. 2007 Oct;117(10):2903-12.

16.

Activation of apoptotic pathways at muscle fiber synapses is circumscribed and reversible in a slow-channel syndrome model.

Vohra BP, Groshong JS, Zayas R, Wollmann RL, Gomez CM.

Neurobiol Dis. 2006 Aug;23(2):462-70. Epub 2006 Jul 11.

PMID:
16815027
17.

Degenerative spine disease : pathologic findings in 985 surgical specimens.

Pytel P, Wollmann RL, Fessler RG, Krausz TN, Montag AG.

Am J Clin Pathol. 2006 Feb;125(2):193-202.

PMID:
16393686
18.

Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice.

Gilbert SL, Zhang L, Forster ML, Anderson JR, Iwase T, Soliven B, Donahue LR, Sweet HO, Bronson RT, Davisson MT, Wollmann RL, Lahn BT.

Nat Genet. 2006 Feb;38(2):245-50. Epub 2005 Dec 25. Erratum in: Nat Genet. 2006 Mar;38(3):389. Anderson, Jeffrey R [added].

PMID:
16380713
19.

Focal caspase activation underlies the endplate myopathy in slow-channel syndrome.

Vohra BP, Groshong JS, Maselli RA, Verity MA, Wollmann RL, Gomez CM.

Ann Neurol. 2004 Mar;55(3):347-52.

PMID:
14991812
20.

Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2.

Maselli RA, Wan J, Dunne V, Graves M, Baloh RW, Wollmann RL, Jen J.

Neurology. 2003 Dec 23;61(12):1743-8.

PMID:
14694040
21.

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

Maselli RA, Dunne V, Pascual-Pascual SI, Bowe C, Agius M, Frank R, Wollmann RL.

Muscle Nerve. 2003 Sep;28(3):293-301.

PMID:
12929188
22.

A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation.

O'Connor SE, Kwiatkowski DJ, Roberts PS, Wollmann RL, Huttenlocher PR.

Neurology. 2003 Aug 12;61(3):409-12.

PMID:
12913212
23.

Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis.

Maselli RA, Chen D, Mo D, Bowe C, Fenton G, Wollmann RL.

Muscle Nerve. 2003 Feb;27(2):180-7.

PMID:
12548525
24.

Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome.

Gomez CM, Maselli RA, Groshong J, Zayas R, Wollmann RL, Cens T, Charnet P.

J Neurosci. 2002 Aug 1;22(15):6447-57.

25.

Presynaptic congenital myasthenic syndrome due to quantal release deficiency.

Maselli RA, Kong DZ, Bowe CM, McDonald CM, Ellis WG, Agius MA, Gomez CM, Richman DP, Wollmann RL.

Neurology. 2001 Jul 24;57(2):279-89.

PMID:
11468313
26.

Disseminated histoplasmosis in an infant with acquired immunodeficiency syndrome.

Wang H, Abrahams C, Hart J, Johnson D, Wollmann RL.

J Infect. 1998 Nov;37(3):298-301.

PMID:
9892538
27.

Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin.

Hack AA, Ly CT, Jiang F, Clendenin CJ, Sigrist KS, Wollmann RL, McNally EM.

J Cell Biol. 1998 Sep 7;142(5):1279-87.

28.

Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome.

Gomez CM, Maselli R, Williams JM, Bhattacharyya BB, Wollmann RL, Day JW.

Ann N Y Acad Sci. 1998 May 13;841:167-80. No abstract available.

PMID:
9668235
29.

Desensitization of mutant acetylcholine receptors in transgenic mice reduces the amplitude of neuromuscular synaptic currents.

Bhattacharyya BJ, Day JW, Gundeck JE, Leonard S, Wollmann RL, Gomez CM.

Synapse. 1997 Dec;27(4):367-77.

PMID:
9372559
30.

Cluster of wound botulism in California: clinical, electrophysiologic, and pathologic study.

Maselli RA, Ellis W, Mandler RN, Sheikh F, Senton G, Knox S, Salari-Namin H, Agius M, Wollmann RL, Richman DP.

Muscle Nerve. 1997 Oct;20(10):1284-95.

PMID:
9324085
31.

Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction.

Gomez CM, Maselli R, Gundeck JE, Chao M, Day JW, Tamamizu S, Lasalde JA, McNamee M, Wollmann RL.

J Neurosci. 1997 Jun 1;17(11):4170-9.

32.

The clinical significance of extracellular matrix in gangliogliomas.

Jaffey PB, Mundt AJ, Baunoch DA, Armstrong DL, Hamilton WJ, Zagaja VG, Grossman RG, Wollmann RL.

J Neuropathol Exp Neurol. 1996 Dec;55(12):1246-52.

PMID:
8957448
33.

A transgenic mouse model of the slow-channel syndrome.

Gomez CM, Bhattacharyya BB, Charnet P, Day JW, Labarca C, Wollmann RL, Lambert EH.

Muscle Nerve. 1996 Jan;19(1):79-87.

PMID:
8538674
34.

The 1995 Lindberg Award. Nonthermally mediated muscle injury and necrosis in electrical trauma.

Block TA, Aarsvold JN, Matthews KL 2nd, Mintzer RA, River LP, Capelli-Schellpfeffer M, Wollmann RL, Tripathi S, Chen CT, Lee RC.

J Burn Care Rehabil. 1995 Nov-Dec;16(6):581-8.

PMID:
8582934
35.

Pathological case of the month. Globoid cell leukodystrophy (Krabbe's disease).

Rueca RE, Taxy JB, Wollmann RL.

Arch Pediatr Adolesc Med. 1995 Oct;149(10):1173-4. No abstract available.

PMID:
7550826
36.

Clinical and genetic studies of fatal familial insomnia.

Reder AT, Mednick AS, Brown P, Spire JP, Van Cauter E, Wollmann RL, Cervenàkovà L, Goldfarb LG, Garay A, Ovsiew F, et al.

Neurology. 1995 Jun;45(6):1068-75.

PMID:
7783865
37.

Concomitant chemoradiotherapy, neutron boost, and adjuvant chemotherapy for anaplastic astrocytoma and glioblastoma multiforme.

Krishnasamy S, Vokes EE, Dohrmann GJ, Mick R, Garcia JC, Kolker JD, Wollmann RL, Hekmatpanah J, Weichselbaum RR.

Cancer Invest. 1995;13(5):453-9.

PMID:
7552809
38.

The human-severe combined immunodeficiency myasthenic mouse model: a new approach for the study of myasthenia gravis.

Martino G, DuPont BL, Wollmann RL, Bongioanni P, Anastasi J, Quintans J, Arnason BG, Grimaldi LM.

Ann Neurol. 1993 Jul;34(1):48-56.

PMID:
8517679
39.

The hu-SCID myasthenic mouse. A new tool for the investigation of seronegative myasthenia gravis.

Martino G, Grimaldi LM, Wollmann RL, Bongioanni P, Quintans J, Arnason BG.

Ann N Y Acad Sci. 1993 Jun 21;681:303-5. No abstract available.

PMID:
8357176
40.

Effector mechanisms of myasthenic antibodies.

Richman DP, Wollmann RL, Maselli RA, Gomez CM, Corey AL, Agius MA, Fairclough RH.

Ann N Y Acad Sci. 1993 Jun 21;681:264-73. No abstract available.

PMID:
8357166
41.

The beta 2-adrenergic agonist terbutaline suppresses acute passive transfer experimental autoimmune myasthenia gravis (EAMG).

Chelmicka-Schorr E, Wollmann RL, Kwasniewski MN, Kim DH, Dupont BL.

Int J Immunopharmacol. 1993 Jan;15(1):19-24.

PMID:
8432621
42.

SAG: a Schwann cell membrane glycoprotein.

Dieperink ME, O'Neill A, Magnoni G, Wollmann RL, Heinrikson RL, Zücher-Neely HA, Stefansson K.

J Neurosci. 1992 Jun;12(6):2177-85.

43.

Surfactant-induced sealing of electropermeabilized skeletal muscle membranes in vivo.

Lee RC, River LP, Pan FS, Ji L, Wollmann RL.

Proc Natl Acad Sci U S A. 1992 May 15;89(10):4524-8.

44.

Sympathectomy augments adoptively transferred experimental allergic encephalomyelitis.

Chelmicka-Schorr E, Kwasniewski MN, Wollmann RL.

J Neuroimmunol. 1992 Mar;37(1-2):99-103.

PMID:
1548379
45.

Inflammation at the neuromuscular junction in myasthenia gravis.

Maselli RA, Richman DP, Wollmann RL.

Neurology. 1991 Sep;41(9):1497-504.

PMID:
1891103
46.

Cellular neuropathology of tuberous sclerosis.

Huttenlocher PR, Wollmann RL.

Ann N Y Acad Sci. 1991;615:140-8.

PMID:
2039139
47.

Patients with myasthenia gravis and thymoma have in their sera IgG autoantibodies against titin.

Aarli JA, Stefansson K, Marton LS, Wollmann RL.

Clin Exp Immunol. 1990 Nov;82(2):284-8.

48.

The effect of fetal hypothalamus grafts on weight gain resulting from lesions of the ventromedial hypothalamus.

Erickson RK, Brown FD, Schaible KL, Wollmann RL.

J Neurosurg. 1988 Jan;68(1):112-6.

PMID:
3275754
49.

Late denervation in patients with antecedent paralytic poliomyelitis.

Cashman NR, Maselli R, Wollmann RL, Roos R, Simon R, Antel JP.

N Engl J Med. 1987 Jul 2;317(1):7-12.

PMID:
3587319
50.

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