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Items: 36

1.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE.

Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29.

2.

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt JL, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig KL, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan KG, Mefford HC.

Genet Med. 2019 Aug;21(8):1899. doi: 10.1038/s41436-018-0336-6.

PMID:
30327536
3.

Xanthine oxidase is hyper-active in Duchenne muscular dystrophy.

Lindsay A, McCourt PM, Karachunski P, Lowe DA, Ervasti JM.

Free Radic Biol Med. 2018 Dec;129:364-371. doi: 10.1016/j.freeradbiomed.2018.10.404. Epub 2018 Oct 10.

4.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt JL, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig KL, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan KG, Mefford HC.

Genet Med. 2019 Mar;21(3):601-607. doi: 10.1038/s41436-018-0137-y. Epub 2018 Sep 24. Erratum in: Genet Med. 2018 Oct 15;:.

5.

A multinational study on motor function in early-onset FSHD.

Mah JK, Feng J, Jacobs MB, Duong T, Carroll K, de Valle K, Carty CL, Morgenroth LP, Guglieri M, Ryan MM, Clemens PR, Thangarajh M, Webster R, Smith E, Connolly AM, McDonald CM, Karachunski P, Tulinius M, Harper A, Cnaan A, Chen YW; Cooperative International Neuromuscular Research Group (CINRG) Investigators.

Neurology. 2018 Apr 10;90(15):e1333-e1338. doi: 10.1212/WNL.0000000000005297. Epub 2018 Mar 14.

6.

Acute Transverse Myelitis Caused by Echovirus 11 in a Pediatric Patient: Case Report and Review of the Current Literature.

Moline HL, Karachunski PI, Strain A, Griffith J, Kenyon C, Schleiss MR.

Child Neurol Open. 2018 Jan 15;5:2329048X17751526. doi: 10.1177/2329048X17751526. eCollection 2018.

7.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J.

Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363.

8.

Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.

Foster LA, Johnson MR, MacDonald JT, Karachunski PI, Henry TR, Nascene DR, Moran BP, Raymond GV.

Pediatr Neurol. 2017 Jan;66:108-111. doi: 10.1016/j.pediatrneurol.2016.10.008. Epub 2016 Oct 18.

PMID:
27867041
9.

Feasibility and tolerability of whole-body, low-intensity vibration and its effects on muscle function and bone in patients with dystrophinopathies: a pilot study.

Petryk A, Polgreen LE, Grames M, Lowe DA, Hodges JS, Karachunski P.

Muscle Nerve. 2017 Jun;55(6):875-883. doi: 10.1002/mus.25431. Epub 2017 Feb 6.

10.

Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families.

Hamdoun E, Karachunski P, Nathan B, Fischer M, Torkelson JL, Drilling A, Petryk A.

Pediatrics. 2016 May;137(5). pii: e20153418. doi: 10.1542/peds.2015-3418. Epub 2016 Apr 14.

11.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB.

Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21.

12.

Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up.

Connolly AM, Florence JM, Zaidman CM, Golumbek PT, Mendell JR, Flanigan KM, Karachunski PI, Day JW, McDonald CM, Darras BT, Kang PB, Siener CA, Gadeken RK, Anand P, Schierbecker JR, Malkus EC, Lowes LP, Alfano LN, Johnson L, Nicorici A, Kelecic JM, Quigley J, Pasternak AE, Miller JP; MDA-DMD Clinical Research Network.

Muscle Nerve. 2016 Oct;54(4):681-9. doi: 10.1002/mus.25089. Epub 2016 May 10.

PMID:
26930423
13.

Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy.

Connolly AM, Malkus EC, Mendell JR, Flanigan KM, Miller JP, Schierbecker JR, Siener CA, Golumbek PT, Zaidman CM, Mcdonald CM, Johnson L, Nicorici A, Karachunski PI, Day JW, Kelecic JM, Lowes LP, Alfano LN, Darras BT, Kang PB, Quigley J, Pasternak AE, Florence JM; MDA DMD Clinical Research Network.

Muscle Nerve. 2015 Apr;51(4):522-32. doi: 10.1002/mus.24346. Epub 2015 Feb 11.

14.

One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development.

Connolly AM, Florence JM, Cradock MM, Eagle M, Flanigan KM, McDonald CM, Karachunski PI, Darras BT, Bushby K, Malkus EC, Golumbek PT, Zaidman CM, Miller JP, Mendell JR; MDA DMD Clinical Research Network.

Pediatr Neurol. 2014 Jun;50(6):557-63. doi: 10.1016/j.pediatrneurol.2014.02.006. Epub 2014 Feb 15.

15.

Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network.

Connolly AM, Florence JM, Cradock MM, Malkus EC, Schierbecker JR, Siener CA, Wulf CO, Anand P, Golumbek PT, Zaidman CM, Philip Miller J, Lowes LP, Alfano LN, Viollet-Callendret L, Flanigan KM, Mendell JR, McDonald CM, Goude E, Johnson L, Nicorici A, Karachunski PI, Day JW, Dalton JC, Farber JM, Buser KK, Darras BT, Kang PB, Riley SO, Shriber E, Parad R, Bushby K, Eagle M; MDA DMD Clinical Research Network.

Neuromuscul Disord. 2013 Jul;23(7):529-39. doi: 10.1016/j.nmd.2013.04.005. Epub 2013 May 28.

16.

Adoptive protection from experimental myasthenia gravis with T cells from mice treated nasally with acetylcholine receptor epitopes.

Monfardini C, Milani M, Ostlie N, Wang W, Karachunski PI, Okita DK, Lindstrom J, Conti-Fine BM.

J Neuroimmunol. 2002 Feb;123(1-2):123-34.

PMID:
11880157
17.

Transgenic expression of IL-10 in T cells facilitates development of experimental myasthenia gravis.

Ostlie NS, Karachunski PI, Wang W, Monfardini C, Kronenberg M, Conti-Fine BM.

J Immunol. 2001 Apr 15;166(8):4853-62.

18.

Absence of IFN-gamma or IL-12 has different effects on experimental myasthenia gravis in C57BL/6 mice.

Karachunski PI, Ostlie NS, Monfardini C, Conti-Fine BM.

J Immunol. 2000 May 15;164(10):5236-44.

19.

Subcutaneous administration of T-epitope sequences of the acetylcholine receptor prevents experimental myasthenia gravis.

Karachunski PI, Ostlie NS, Okita DK, Garman R, Conti-Fine BM.

J Neuroimmunol. 1999 Jan 1;93(1-2):108-21.

PMID:
10378874
21.

Myasthenia in SCID mice grafted with myasthenic patient lymphocytes: role of CD4+ and CD8+ cells.

Wang ZY, Karachunski PI, Howard JF Jr, Conti-Fine BM.

Neurology. 1999 Feb;52(3):484-97.

PMID:
10025776
22.

Human and rodent bronchial epithelial cells express functional nicotinic acetylcholine receptors.

Maus AD, Pereira EF, Karachunski PI, Horton RM, Navaneetham D, Macklin K, Cortes WS, Albuquerque EX, Conti-Fine BM.

Mol Pharmacol. 1998 Nov;54(5):779-88.

PMID:
9804613
23.

T cell recognition of the acetylcholine receptor in myasthenia gravis.

Conti-Fine BM, Navaneetham D, Karachunski PI, Raju R, Diethelm-Okita B, Okita D, Howard J Jr, Wang ZY.

Ann N Y Acad Sci. 1998 May 13;841:283-308. Review. No abstract available.

PMID:
9668248
24.

Nasal administration of synthetic acetylcholine receptor T epitopes affects the immune response to the acetylcholine receptor and prevents experimental myasthenia gravis.

Karachunski PI, Ostlie NS, Okita DK, Conti-Fine BM.

Ann N Y Acad Sci. 1998 May 13;841:560-4. No abstract available.

PMID:
9668295
25.

Immunization of bm12 mice with high doses of acetylcholine receptor overcomes their resistance to experimental autoimmune myasthenia gravis.

Karachunski PI, Ostlie NS, Lei S, Okita DK, Lindstrom JM, Conti-Fine BM.

Ann N Y Acad Sci. 1998 May 13;841:555-9. No abstract available.

PMID:
9668294
26.

Susceptibility of HLA DR3 transgenic mice to experimental autoimmune myasthenia gravis.

Raju R, Zhan WZ, Karachunski P, Sieck GC, Conti-Fine BM, David CS.

Ann N Y Acad Sci. 1998 May 13;841:360-4. No abstract available.

PMID:
9668259
27.

Polymorphism at the HLA-DQ locus determines susceptibility to experimental autoimmune myasthenia gravis.

Raju R, Zhan WZ, Karachunski P, Conti-Fine B, Sieck GC, David C.

J Immunol. 1998 May 1;160(9):4169-74.

28.

Prevention of experimental myasthenia gravis by nasal administration of synthetic acetylcholine receptor T epitope sequences.

Karachunski PI, Ostlie NS, Okita DK, Conti-Fine BM.

J Clin Invest. 1997 Dec 15;100(12):3027-35.

29.

PCR screening of transgenic RAG-2 "knockout" immunodeficient mice.

Horton RM, Karachunski PI, Conti-Fine BM.

Biotechniques. 1995 Nov;19(5):690-1. No abstract available.

PMID:
8588895
30.

Simple, inexpensive computerized rodent activity meters.

Horton RM, Karachunski PI, Kellermann SA, Conti-Fine BM.

Biotechniques. 1995 Oct;19(4):594-7.

PMID:
8777053
31.

Mechanisms by which the I-ABM12 mutation influences susceptibility to experimental myasthenia gravis: a study in homozygous and heterozygous mice.

Karachunski PI, Ostlie N, Bellone M, Infante AJ, Conti-Fine BM.

Scand J Immunol. 1995 Aug;42(2):215-25.

PMID:
7631155
32.

Clustering of B and T epitopes within short sequence regions of the nicotinic acetylcholine receptor.

Bellone M, Karachunski PI, Ostlie N, Lei S, Conti-Fine BM.

Scand J Immunol. 1995 Feb;41(2):135-40.

PMID:
7532317
33.
34.

Preferential pairing of T and B cells for production of antibodies without covalent association of T and B epitopes.

Bellone M, Karachunski PI, Ostlie N, Lei S, Conti-Tronconi BM.

Eur J Immunol. 1994 Apr;24(4):799-804.

PMID:
7512029
35.

Epitopes on the beta subunit of human muscle acetylcholine receptor recognized by CD4+ cells of myasthenia gravis patients and healthy subjects.

Moiola L, Karachunski P, Protti MP, Howard JF Jr, Conti-Tronconi BM.

J Clin Invest. 1994 Mar;93(3):1020-8.

36.

Cryptic epitopes on the nicotinic acetylcholine receptor are recognized by autoreactive CD4+ cells.

Bellone M, Ostlie N, Karachunski P, Manfredi AA, Conti-Tronconi BM.

J Immunol. 1993 Jul 15;151(2):1025-38.

PMID:
7687612

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