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Items: 35

1.

A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema.

Schweitzer GG, Gan C, Bucelli RC, Wegner D, Schmidt RE, Shinawi M, Finck BN, Brookheart RT.

Mol Genet Genomic Med. 2019 Jul;7(7):e00733. doi: 10.1002/mgg3.733. Epub 2019 May 8.

2.

Sleep disturbances are common in patients with autoimmune encephalitis.

Blattner MS, de Bruin GS, Bucelli RC, Day GS.

J Neurol. 2019 Apr;266(4):1007-1015. doi: 10.1007/s00415-019-09230-2. Epub 2019 Feb 11.

PMID:
30741377
3.

Structural signature of sporadic Creutzfeldt-Jakob disease.

Navid J, Day GS, Strain J, Perrin RJ, Bucelli RC, Dincer A, Wisch JK, Soleimani-Meigooni D, Morris JC, Benzinger TLS, Ances BM.

Eur J Neurol. 2019 Aug;26(8):1037-1043. doi: 10.1111/ene.13930. Epub 2019 Mar 25.

PMID:
30735286
4.

Patient characteristics and outcome associations in AMPA receptor encephalitis.

Laurido-Soto O, Brier MR, Simon LE, McCullough A, Bucelli RC, Day GS.

J Neurol. 2019 Feb;266(2):450-460. doi: 10.1007/s00415-018-9153-8. Epub 2018 Dec 17.

PMID:
30560455
5.

Hereditary Motor Neuropathies and Amyotrophic Lateral Sclerosis: a Molecular and Clinical Update.

Garcia-Santibanez R, Burford M, Bucelli RC.

Curr Neurol Neurosci Rep. 2018 Oct 17;18(12):93. doi: 10.1007/s11910-018-0901-z. Review.

PMID:
30328519
6.

CANOMAD and other chronic ataxic neuropathies with disialosyl antibodies (CANDA).

Garcia-Santibanez R, Zaidman CM, Sommerville RB, Lopate G, Weihl CC, Pestronk A, Bucelli RC.

J Neurol. 2018 Jun;265(6):1402-1409. doi: 10.1007/s00415-018-8853-4. Epub 2018 Apr 9.

PMID:
29633012
7.

Autoimmune Encephalitis With Multiple Autoantibodies: A Diagnostic and Therapeutic Challenge.

Kim AE, Kang P, Bucelli RC, Ferguson CJ, Schmidt RE, Varadhachary AS, Day GS.

Neurologist. 2018 Mar;23(2):55-59. doi: 10.1097/NRL.0000000000000171.

PMID:
29494437
8.

Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Presenting With Neurotrophic Keratopathy.

Paley GL, Kung NH, Bucelli RC, Margolis TP, Van Stavern GP.

J Neuroophthalmol. 2018 Sep;38(3):342-343. doi: 10.1097/WNO.0000000000000638. No abstract available.

PMID:
29474200
9.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, Taylor JP, Weihl CC, Udd B.

J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19.

10.

Immune myopathies with perimysial pathology: Clinical and laboratory features.

Bucelli RC, Pestronk A.

Neurol Neuroimmunol Neuroinflamm. 2018 Jan 17;5(2):e434. doi: 10.1212/NXI.0000000000000434. eCollection 2018 Mar.

11.

Nerve ultrasound reliability of upper limbs: Effects of examiner training.

Garcia-Santibanez R, Dietz AR, Bucelli RC, Zaidman CM.

Muscle Nerve. 2018 Feb;57(2):189-192. doi: 10.1002/mus.25980. Epub 2017 Nov 12.

PMID:
28981150
12.

Nodular Leptomeningeal Enhancement in Neurosarcoidosis: Before and After Treatment.

Avila JD, Bucelli RC.

Neurohospitalist. 2017 Oct;7(4):NP1-NP2. doi: 10.1177/1941874416684457. Epub 2016 Dec 18. No abstract available.

13.

Teaching NeuroImages: Cerebral amyloid angiopathy-related inflammation presenting with isolated leptomeningitis.

Kang P, Bucelli RC, Ferguson CJ, Corbo JC, Kim AH, Day GS.

Neurology. 2017 Aug 8;89(6):e66-e67. doi: 10.1212/WNL.0000000000004218. No abstract available.

PMID:
28784645
14.

Serial diaphragm ultrasound studies in neuralgic amyotrophy with bilateral phrenic neuropathies.

Garcia-Santibanez R, Zaidman CM, Russell T, Bucelli RC.

Muscle Nerve. 2017 Dec;56(6):E168-E170. doi: 10.1002/mus.25750. Epub 2017 Aug 8. No abstract available.

PMID:
28722779
15.

Commentary.

Wilks A, Bucelli RC.

Clin Chem. 2017 Jun;63(6):1073. doi: 10.1373/clinchem.2017.272252. No abstract available.

16.

A Middle-aged Man With Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis.

Kung NH, Van Stavern GP, Bucelli RC.

JAMA Neurol. 2017 Jun 1;74(6):733-736. doi: 10.1001/jamaneurol.2017.0055.

PMID:
28437518
17.

Ziprasidone as a Potential Abortive Therapy for Status Migrainosus.

Landsness EC, Wang LH, Bucelli RC.

Neurohospitalist. 2016 Oct;6(4):151-156. Epub 2016 Jun 2.

18.

JC virus granule cell neuronopathy in the setting of chronic lymphopenia treated with recombinant interleukin-7.

Soleimani-Meigooni DN, Schwetye KE, Angeles MR, Ryschkewitsch CF, Major EO, Dang X, Koralnik IJ, Schmidt RE, Clifford DB, Kuhlmann FM, Bucelli RC.

J Neurovirol. 2017 Feb;23(1):141-146. doi: 10.1007/s13365-016-0465-0. Epub 2016 Jul 15.

19.

Sleep Pathology in Creutzfeldt-Jakob Disease.

Kang P, de Bruin GS, Wang LH, Ward BA, Ances BM, Lim MM, Bucelli RC.

J Clin Sleep Med. 2016 Jul 15;12(7):1033-9. doi: 10.5664/jcsm.5944.

20.

Neuro-Sweet disease: A case of recurrent encephalitis and febrile neutrophilic dermatosis.

Yuan K, Musiek AC, Schaffer A, Bucelli RC.

Neurol Clin Pract. 2016 Jun;6(3):e20-e23. doi: 10.1212/CPJ.0000000000000210. No abstract available.

21.

A Young Man With Progressive Vision and Hearing Loss.

Kung NH, Bucelli RC, Van Stavern RB, Goebel JA, Van Stavern GP.

JAMA Neurol. 2016 Jul 1;73(7):880-3. doi: 10.1001/jamaneurol.2016.1336. Erratum in: JAMA Neurol. 2016 Jul 1;73(7):895.

PMID:
27213952
22.

Chronic Progressive External Ophthalmoplegia in the Absence of Ptosis.

Bucelli RC, Lee MS, McClelland CM.

J Neuroophthalmol. 2016 Sep;36(3):270-4. doi: 10.1097/WNO.0000000000000384.

PMID:
27111092
23.

Neurologic manifestations of intravascular large B-cell lymphoma.

Tahsili-Fahadan P, Rashidi A, Cimino PJ, Bucelli RC, Keyrouz SG.

Neurol Clin Pract. 2016 Feb;6(1):55-60. Review.

24.

A Young Woman With Blurred Vision and Distal Paresthesias.

Kung NH, Bartlett NL, Yaseen NR, Van Stavern GP, Bucelli RC.

JAMA Neurol. 2015 Dec;72(12):1519-23. doi: 10.1001/jamaneurol.2015.2390.

PMID:
26501203
25.

Ocular Neuromyotonia Associated with Chronic Inflammatory Demyelinating Polyneuropathy.

Kung NH, Bucelli RC, McClelland CM, Van Stavern GP.

Neuroophthalmology. 2015 Aug 24;39(5):240-242. eCollection 2015 Oct.

26.

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evilä A, Hackman P, Udd B, Harms MB, Weihl CC.

Neurology. 2015 Aug 25;85(8):665-74. doi: 10.1212/WNL.0000000000001864. Epub 2015 Jul 24.

27.

Nerve ultrasound identifies abnormalities in the posterior interosseous nerve in patients with proximal radial neuropathies.

Dietz AR, Bucelli RC, Pestronk A, Zaidman CM.

Muscle Nerve. 2016 Mar;53(3):379-83. doi: 10.1002/mus.24778. Epub 2015 Dec 29.

28.

In vivo kinetic approach reveals slow SOD1 turnover in the CNS.

Crisp MJ, Mawuenyega KG, Patterson BW, Reddy NC, Chott R, Self WK, Weihl CC, Jockel-Balsarotti J, Varadhachary AS, Bucelli RC, Yarasheski KE, Bateman RJ, Miller TM.

J Clin Invest. 2015 Jul 1;125(7):2772-80. doi: 10.1172/JCI80705. Epub 2015 Jun 15.

29.

Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity.

Schweitzer GG, Collier SL, Chen Z, Eaton JM, Connolly AM, Bucelli RC, Pestronk A, Harris TE, Finck BN.

JIMD Rep. 2015;23:113-22. doi: 10.1007/8904_2015_440. Epub 2015 May 13.

30.

Criteria for reducing unnecessary testing for herpes simplex virus, varicella-zoster virus, cytomegalovirus, and enterovirus in cerebrospinal fluid samples from adults.

Wilen CB, Monaco CL, Hoppe-Bauer J, Jackups R Jr, Bucelli RC, Burnham CA.

J Clin Microbiol. 2015 Mar;53(3):887-95. doi: 10.1128/JCM.03161-14. Epub 2015 Jan 7.

31.

Atypical CSF findings in West Nile neuroinvasive disease: A diagnostic and therapeutic conundrum.

Maiti B, Bucelli RC.

Neurol Neuroimmunol Neuroinflamm. 2014 May 22;1(1):e8. doi: 10.1212/NXI.0000000000000008. eCollection 2014 Jun. No abstract available.

32.

Diagnosis and evaluation of a patient with rapidly progressive dementia.

Bucelli RC, Ances BM.

Mo Med. 2013 Sep-Oct;110(5):422-8. Review.

33.

Role of magnetic resonance imaging, cerebrospinal fluid, and electroencephalogram in diagnosis of sporadic Creutzfeldt-Jakob disease.

Wang LH, Bucelli RC, Patrick E, Rajderkar D, Alvarez Iii E, Lim MM, Debruin G, Sharma V, Dahiya S, Schmidt RE, Benzinger TS, Ward BA, Ances BM.

J Neurol. 2013 Feb;260(2):498-506. doi: 10.1007/s00415-012-6664-6. Epub 2012 Sep 12.

34.

Statins decrease expression of the proinflammatory neuropeptides calcitonin gene-related peptide and substance P in sensory neurons.

Bucelli RC, Gonsiorek EA, Kim WY, Bruun D, Rabin RA, Higgins D, Lein PJ.

J Pharmacol Exp Ther. 2008 Mar;324(3):1172-80. Epub 2007 Dec 13.

PMID:
18079356
35.

Cellular mechanisms of serotonin 5-HT2A receptor-mediated cGMP formation: the essential role of glutamate.

Regina MJ, Bucelli RC, Winter JC, Rabin RA.

Brain Res. 2004 Apr 2;1003(1-2):168-75.

PMID:
15019576

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