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Items: 1 to 50 of 126

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.

Neuropathological evaluation of an 84-year-old man after 422 ECT treatments.

Anderson D, Wollmann R, Dinwiddie SH.

J ECT. 2014 Sep;30(3):248-50. doi: 10.1097/YCT.0000000000000062.

PMID:
24755716
3.

Acute encephalopathy as the initial manifestation of CADASIL.

Fan Y, McGowan S, Rubeiz H, Wollmann R, Javed A, Mastrianni J.

Neurol Clin Pract. 2012 Dec;2(4):359-361.

4.

Advanced neuroimaging studies in a patient with brain metastases from transitional cell carcinoma of the bladder.

Choi YJ, Gabikian P, Zhu F, Appelbaum DE, Wollmann R, Lukas RV.

J Neuroimaging. 2014 Jul-Aug;24(4):429-31. doi: 10.1111/jon.12024. Epub 2013 Apr 2.

PMID:
23551927
5.

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
6.

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
7.

Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation.

Hanna N, Bouhenni R, Gupta B, Abu-Amero KK, Wollmann R, Edward DP.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):83-6. doi: 10.3109/13816810.2012.716487. Epub 2012 Aug 27.

PMID:
22924779
8.

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
9.

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.

10.

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.

11.

A middle-aged woman with nausea, weight loss, and orthostatic hypotension.

Singer W, Yung IO, Wollmann R, Kelly T, Keegan BM.

Neurology. 2011 Aug 2;77(5):489-95. doi: 10.1212/WNL.0b013e318227b18a. No abstract available.

PMID:
21810698
12.

The L-coding region of the DA strain of Theiler's murine encephalomyelitis virus causes dysfunction and death of myelin-synthesizing cells.

Ghadge GD, Wollmann R, Baida G, Traka M, Roos RP.

J Virol. 2011 Sep;85(18):9377-84. doi: 10.1128/JVI.00178-11. Epub 2011 Jul 13.

13.

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
14.

T. gondii RP promoters & knockdown reveal molecular pathways associated with proliferation and cell-cycle arrest.

Hutson SL, Mui E, Kinsley K, Witola WH, Behnke MS, El Bissati K, Muench SP, Rohrman B, Liu SR, Wollmann R, Ogata Y, Sarkeshik A, Yates JR 3rd, McLeod R.

PLoS One. 2010 Nov 22;5(11):e14057. doi: 10.1371/journal.pone.0014057.

15.

Fatal "hypertensive" intracerebral hemorrhage associated with a cerebral cavernous angioma: case report.

Dey M, Turner MS, Wollmann R, Awad IA.

Acta Neurochir (Wien). 2011 Feb;153(2):421-3. doi: 10.1007/s00701-010-0801-8. Epub 2010 Sep 19. No abstract available.

PMID:
20852899
16.

Long-term survival of a patient with glioblastoma.

Sacher A, Wollmann R, Kalokhe U, Munoz D, Guiot MC, Macdonald RL.

Can J Neurol Sci. 2010 Mar;37(2):289-92. No abstract available.

PMID:
20437948
17.

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.

18.

Fingolimod and related compounds in a spontaneous autoimmune polyneuropathy.

Kim HJ, Jung CG, Dukala D, Bae H, Kakazu R, Wollmann R, Soliven B.

J Neuroimmunol. 2009 Sep 29;214(1-2):93-100. doi: 10.1016/j.jneuroim.2009.07.006. Epub 2009 Aug 3.

19.

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.

20.

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
21.

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.

22.

Neurological and behavioral abnormalities, ventricular dilatation, altered cellular functions, inflammation, and neuronal injury in brains of mice due to common, persistent, parasitic infection.

Hermes G, Ajioka JW, Kelly KA, Mui E, Roberts F, Kasza K, Mayr T, Kirisits MJ, Wollmann R, Ferguson DJ, Roberts CW, Hwang JH, Trendler T, Kennan RP, Suzuki Y, Reardon C, Hickey WF, Chen L, McLeod R.

J Neuroinflammation. 2008 Oct 23;5:48. doi: 10.1186/1742-2094-5-48.

23.

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.

24.

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
25.

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.

26.

Diminishing apoptosis by deletion of Bax or overexpression of Bcl-2 does not protect against infectious prion toxicity in vivo.

Steele AD, King OD, Jackson WS, Hetz CA, Borkowski AW, Thielen P, Wollmann R, Lindquist S.

J Neurosci. 2007 Nov 21;27(47):13022-7.

27.

Prion pathogenesis is independent of caspase-12.

Steele AD, Hetz C, Yi CH, Jackson WS, Borkowski AW, Yuan J, Wollmann RH, Lindquist S.

Prion. 2007 Oct-Dec;1(4):243-7. Epub 2007 Oct 8.

28.

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.

29.

Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.

Maselli R, Dris H, Schnier J, Cockrell J, Wollmann R.

Clin Genet. 2007 Jul;72(1):63-5. No abstract available.

PMID:
17594401
30.

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.

MacLeod H, Pytel P, Wollmann R, Chelmicka-Schorr E, Silver K, Anderson RB, Waggoner D, McNally EM.

Neuromuscul Disord. 2007 Apr;17(4):285-9. Epub 2007 Mar 1.

PMID:
17336067
31.

Cytosolic prion protein toxicity is independent of cellular prion protein expression and prion propagation.

Norstrom EM, Ciaccio MF, Rassbach B, Wollmann R, Mastrianni JA.

J Virol. 2007 Mar;81(6):2831-7. Epub 2006 Dec 20.

32.

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
33.

The interaction between cytoplasmic prion protein and the hydrophobic lipid core of membrane correlates with neurotoxicity.

Wang X, Wang F, Arterburn L, Wollmann R, Ma J.

J Biol Chem. 2006 May 12;281(19):13559-65. Epub 2006 Mar 14.

34.

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
35.

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
36.

Ganglioneuromatous paraganglioma of the cauda equina--a pathological case study.

Pytel P, Krausz T, Wollmann R, Utset MF.

Hum Pathol. 2005 Apr;36(4):444-6.

PMID:
15892009
37.

K+ channel blockade impairs remyelination in the cuprizone model.

Bacia A, Wollmann R, Soliven B.

Glia. 2004 Nov 1;48(2):156-65.

PMID:
15378653
38.

Design and possibilities of the materials science beamline at DELTA.

Frahm R, Wollmann R, Hammer H, Lützenkirchen-Hecht D.

J Synchrotron Radiat. 1999 May 1;6(Pt 3):172-3. Epub 1999 May 1. No abstract available.

PMID:
15263237
39.

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
40.

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
41.

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
42.

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
43.

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
44.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with hypertrophic spinal radiculopathy mimicking neurofibromatosis.

Pytel P, Rezania K, Soliven B, Frank J, Wollmann R.

Acta Neuropathol. 2003 Feb;105(2):185-8. Epub 2002 Sep 28.

PMID:
12536230
45.

Neurotoxicity and neurodegeneration when PrP accumulates in the cytosol.

Ma J, Wollmann R, Lindquist S.

Science. 2002 Nov 29;298(5599):1781-5. Epub 2002 Oct 17.

46.

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.

47.

Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.

Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J.

Ann Neurol. 2002 Jan;51(1):102-12.

48.

Traumatic aneurysm resulting from insertion of an intracranial pressure monitor. Case illustration.

Le H, Munshi I, Macdonald RL, Wollmann R, Frank J.

J Neurosurg. 2001 Oct;95(4):720. No abstract available.

PMID:
11596971
49.

Isolated, primary extranodal Hodgkin's disease of the spine: case report.

Citow JS, Rini B, Wollmann R, Macdonald RL.

Neurosurgery. 2001 Aug;49(2):453-6; discussion 456-7. Review.

PMID:
11504124
50.

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

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