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Items: 1 to 50 of 167

1.

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.

Sullivan JM, Motley WW, Johnson JO, Aisenberg WH, Marshall KL, Barwick KE, Kong L, Huh JS, Saavedra-Rivera PC, McEntagart MM, Marion MH, Hicklin LA, Modarres H, Baple EL, Farah MH, Zuberi AR, Lutz CM, Gaudet R, Traynor BJ, Crosby AH, Sumner CJ.

J Clin Invest. 2020 Feb 17. pii: 128152. doi: 10.1172/JCI128152. [Epub ahead of print]

2.

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.

Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, Lewis RA, Li J, Lloyd TE, Moroni I, Muntoni F, Pagliano E, Pisciotta C, Piscosquito G, Ramchandren S, Saporta M, Sadjadi R, Shy RR, Siskind CE, Sumner CJ, Walk D, Wilcox J, Yum SW, Züchner S, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN).

Neurology. 2020 Feb 11. pii: 10.1212/WNL.0000000000009035. doi: 10.1212/WNL.0000000000009035. [Epub ahead of print]

PMID:
32047073
3.

Pharmacogenomic Testing in Psychiatry: Ready for Primetime?

Rakesh G, Sumner CR, Alexander JL, Gross LS, Pine J, Slaby A, Garakani A, Baron D.

J Nerv Ment Dis. 2020 Feb;208(2):127-130. doi: 10.1097/NMD.0000000000001107.

PMID:
31895226
4.

How benchmarking promotes farmer and veterinarian cooperation to improve calf welfare.

Sumner CL, von Keyserlingk MAG, Weary DM.

J Dairy Sci. 2020 Jan;103(1):702-713. doi: 10.3168/jds.2019-16338. Epub 2019 Oct 16.

PMID:
31629510
5.

Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.

Ramos DM, d'Ydewalle C, Gabbeta V, Dakka A, Klein SK, Norris DA, Matson J, Taylor SJ, Zaworski PG, Prior TW, Snyder PJ, Valdivia D, Hatem CL, Waters I, Gupte N, Swoboda KJ, Rigo F, Bennett CF, Naryshkin N, Paushkin S, Crawford TO, Sumner CJ.

J Clin Invest. 2019 Nov 1;129(11):4817-4831. doi: 10.1172/JCI124120.

6.

Equity and diversity in academic medicine: a perspective from the JCI editors.

Resar LM, Jaffee EM, Armanios M, Jackson S, Azad NS, Horton MR, Kaplan MJ, Laiho M, Maus MV, Sumner CJ, Wheelan SJ, Wills-Karp M.

J Clin Invest. 2019 Oct 1;129(10):3974-3977. doi: 10.1172/JCI130902. No abstract available.

7.

Dominant collagen XII mutations cause a distal myopathy.

Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, Finkel RS, Chen J, Winder TL, Staff NP, Foley AR, Koch M, Bönnemann CG.

Ann Clin Transl Neurol. 2019 Oct;6(10):1980-1988. doi: 10.1002/acn3.50882. Epub 2019 Sep 11.

8.

Spinal muscular atrophy: Further expanding the clinician's armamentarium.

Brandsema JF, Sumner CJ.

Neurology. 2019 Oct 1;93(14):613-614. doi: 10.1212/WNL.0000000000008192. Epub 2019 Sep 5. No abstract available.

PMID:
31488614
9.

Left Atrial Function Using Cardiovascular Magnetic Resonance Imaging Independently Predicts Life-Threatening Arrhythmias in Patients Referred to Receive a Primary Prevention Implantable Cardioverter Defibrillator.

Lydell CP, Mikami Y, Homer K, Peng M, Cornhill A, Rajagopalan A, Arasaratnam P, Cowan K, Roberts A, Sumner C, Heydari B, Howarth AG, Exner D, White JA.

Can J Cardiol. 2019 Sep;35(9):1149-1157. doi: 10.1016/j.cjca.2019.04.015. Epub 2019 Apr 23.

PMID:
31472813
10.

Motor neuron loss in SMA is not associated with somal stress-activated JNK/c-Jun signaling.

Pilato CM, Park JH, Kong L, d'Ydewalle C, Valdivia D, Chen KS, Griswold-Prenner I, Sumner CJ.

Hum Mol Genet. 2019 Oct 1;28(19):3282-3292. doi: 10.1093/hmg/ddz150.

PMID:
31272106
11.

Genetic approaches to the treatment of inherited neuromuscular diseases.

Ravi B, Antonellis A, Sumner CJ, Lieberman AP.

Hum Mol Genet. 2019 Oct 1;28(R1):R55-R64. doi: 10.1093/hmg/ddz131.

PMID:
31227836
12.

Neurofilament as a potential biomarker for spinal muscular atrophy.

Darras BT, Crawford TO, Finkel RS, Mercuri E, De Vivo DC, Oskoui M, Tizzano EF, Ryan MM, Muntoni F, Zhao G, Staropoli J, McCampbell A, Petrillo M, Stebbins C, Fradette S, Farwell W, Sumner CJ.

Ann Clin Transl Neurol. 2019 Apr 17;6(5):932-944. doi: 10.1002/acn3.779. eCollection 2019 May.

13.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium.

J Neuromuscul Dis. 2019;6(2):201-211. doi: 10.3233/JND-190377.

14.

Visual Speech Benefit in Clear and Degraded Speech Depends on the Auditory Intelligibility of the Talker and the Number of Background Talkers.

Blackburn CL, Kitterick PT, Jones G, Sumner CJ, Stacey PC.

Trends Hear. 2019 Jan-Dec;23:2331216519837866. doi: 10.1177/2331216519837866. Erratum in: Trends Hear. 2019 Jan-Dec;23:2331216519851989.

15.

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.

Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium.

Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426.

PMID:
30706531
16.

Changes in Neuronal Representations of Consonants in the Ascending Auditory System and Their Role in Speech Recognition.

Steadman MA, Sumner CJ.

Front Neurosci. 2018 Oct 12;12:671. doi: 10.3389/fnins.2018.00671. eCollection 2018.

17.

Revisiting Models of Concurrent Vowel Identification: The Critical Case of No Pitch Differences.

Smith SS, Chintanpalli A, Heinz MG, Sumner CJ.

Acta Acust United Acust. 2018 Sep-Oct;104(5):922-925. doi: 10.3813/AAA.919244.

18.

Mammalian behavior and physiology converge to confirm sharper cochlear tuning in humans.

Sumner CJ, Wells TT, Bergevin C, Sollini J, Kreft HA, Palmer AR, Oxenham AJ, Shera CA.

Proc Natl Acad Sci U S A. 2018 Oct 30;115(44):11322-11326. doi: 10.1073/pnas.1810766115. Epub 2018 Oct 15.

19.

The first case of severe acute hemolytic transfusion reaction caused by anti-Sc2.

Lemay AS, Tong TN, Branch DR, Huang M, Sumner C, Oldfield L, Hawes J, Cserti-Gazdewich CM, Lau W.

Transfusion. 2018 Nov;58(11):2506-2512. doi: 10.1111/trf.14867. Epub 2018 Oct 9.

PMID:
30299537
20.

Canadian dairy cattle veterinarian perspectives on calf welfare.

Sumner CL, von Keyserlingk MAG.

J Dairy Sci. 2018 Nov;101(11):10303-10316. doi: 10.3168/jds.2018-14859. Epub 2018 Sep 7.

21.

Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain.

Sumner CJ, Crawford TO.

J Clin Invest. 2018 Aug 1;128(8):3219-3227. doi: 10.1172/JCI121658. Epub 2018 Jul 9. Review.

22.

Perspectives of farmers and veterinarians concerning dairy cattle welfare.

Sumner CL, von Keyserlingk MAG, Weary DM.

Anim Front. 2018 Apr 11;8(1):8-13. doi: 10.1093/af/vfx006. eCollection 2018 Jan. No abstract available.

23.

How benchmarking motivates farmers to improve dairy calf management.

Sumner CL, von Keyserlingk MAG, Weary DM.

J Dairy Sci. 2018 Apr;101(4):3323-3333. doi: 10.3168/jds.2017-13596. Epub 2018 Feb 4.

24.

TRPV1 is a physiological regulator of μ-opioid receptors.

Scherer PC, Zaccor NW, Neumann NM, Vasavda C, Barrow R, Ewald AJ, Rao F, Sumner CJ, Snyder SH.

Proc Natl Acad Sci U S A. 2017 Dec 19;114(51):13561-13566. doi: 10.1073/pnas.1717005114. Epub 2017 Dec 4.

25.

Measuring G-protein-coupled Receptor Signaling via Radio-labeled GTP Binding.

Vasavda C, Zaccor NW, Scherer PC, Sumner CJ, Snyder SH.

J Vis Exp. 2017 Jun 9;(124). doi: 10.3791/55561.

26.

Spatial Processing Is Frequency Specific in Auditory Cortex But Not in the Midbrain.

Sollini J, Mill R, Sumner CJ.

J Neurosci. 2017 Jul 5;37(27):6588-6599. doi: 10.1523/JNEUROSCI.3034-16.2017. Epub 2017 May 30.

27.

Adult intestinal colonization botulism mimicking brain death.

Freund B, Hayes L, Rivera-Lara L, Sumner C, Chaudhry V, Chatham-Stephens K, Benedict K, Kalb S, Blythe D, Brooks R, Probasco JC.

Muscle Nerve. 2017 Oct;56(4):E27-E28. doi: 10.1002/mus.25689. Epub 2017 May 29. No abstract available.

PMID:
28500638
28.

Database-Centric Method for Automated High-Throughput Deconvolution and Analysis of Kinetic Antibody Screening Data.

Nobrega RP, Brown M, Williams C, Sumner C, Estep P, Caffry I, Yu Y, Lynaugh H, Burnina I, Lilov A, Desroches J, Bukowski J, Sun T, Belk JP, Johnson K, Xu Y.

SLAS Technol. 2017 Oct;22(5):547-556. doi: 10.1177/2472630317705611. Epub 2017 Apr 21.

PMID:
28430560
29.

The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy.

d'Ydewalle C, Ramos DM, Pyles NJ, Ng SY, Gorz M, Pilato CM, Ling K, Kong L, Ward AJ, Rubin LL, Rigo F, Bennett CF, Sumner CJ.

Neuron. 2017 Jan 4;93(1):66-79. doi: 10.1016/j.neuron.2016.11.033. Epub 2016 Dec 22.

30.

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J.

Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23.

PMID:
28012042
31.

Neuropsychiatric aspects of concussion.

Radhakrishnan R, Garakani A, Gross LS, Goin MK, Pine J, Slaby AE, Sumner CR, Baron DA.

Lancet Psychiatry. 2016 Dec;3(12):1166-1175. doi: 10.1016/S2215-0366(16)30266-8. Review.

PMID:
27889010
32.

Siderophore vaccine conjugates protect against uropathogenic Escherichia coli urinary tract infection.

Mike LA, Smith SN, Sumner CA, Eaton KA, Mobley HL.

Proc Natl Acad Sci U S A. 2016 Nov 22;113(47):13468-13473. Epub 2016 Nov 7.

33.

A Microbiome DNA Enrichment Method for Next-Generation Sequencing Sample Preparation.

Yigit E, Feehery GR, Langhorst BW, Stewart FJ, Dimalanta ET, Pradhan S, Slatko B, Gardner AF, McFarland J, Sumner C, Davis TB.

Curr Protoc Mol Biol. 2016 Jul 1;115:7.26.1-7.26.14. doi: 10.1002/cpmb.12.

PMID:
27366894
34.

Relating approach-to-target and detection tasks in animal psychoacoustics.

Sollini J, Alves-Pinto A, Sumner CJ.

Behav Neurosci. 2016 Aug;130(4):393-405. doi: 10.1037/bne0000143. Epub 2016 May 19.

35.

Whole-body MR neurography: Prospective feasibility study in polyneuropathy and Charcot-Marie-Tooth disease.

Chhabra A, Carrino JA, Farahani SJ, Thawait GK, Sumner CJ, Wadhwa V, Chaudhary V, Lloyd TE.

J Magn Reson Imaging. 2016 Dec;44(6):1513-1521. doi: 10.1002/jmri.25293. Epub 2016 Apr 29.

PMID:
27126998
36.

The contribution of visual information to the perception of speech in noise with and without informative temporal fine structure.

Stacey PC, Kitterick PT, Morris SD, Sumner CJ.

Hear Res. 2016 Jun;336:17-28. doi: 10.1016/j.heares.2016.04.002. Epub 2016 Apr 13.

37.

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.

Sullivan JM, Zimanyi CM, Aisenberg W, Bears B, Chen DH, Day JW, Bird TD, Siskind CE, Gaudet R, Sumner CJ.

Neurol Genet. 2015 Oct 22;1(4):e29. doi: 10.1212/NXG.0000000000000029. eCollection 2015 Dec.

38.

Genetics and genomic medicine in Mali: challenges and future perspectives.

Landouré G, Samassékou O, Traoré M, Meilleur KG, Guinto CO, Burnett BG, Sumner CJ, Fischbeck KH.

Mol Genet Genomic Med. 2016 Mar 17;4(2):126-34. doi: 10.1002/mgg3.212. eCollection 2016 Mar.

39.

Behavioural estimates of auditory filter widths in ferrets using notched-noise maskers.

Alves-Pinto A, Sollini J, Wells T, Sumner CJ.

J Acoust Soc Am. 2016 Feb;139(2):EL19-24. doi: 10.1121/1.4941772.

40.

A Phenomenological Model of the Electrically Stimulated Auditory Nerve Fiber: Temporal and Biphasic Response Properties.

Horne CD, Sumner CJ, Seeber BU.

Front Comput Neurosci. 2016 Feb 8;10:8. doi: 10.3389/fncom.2016.00008. eCollection 2016.

41.

Selective Depletion of Abundant RNAs to Enable Transcriptome Analysis of Low-Input and Highly Degraded Human RNA.

Munafó DB, Langhorst BW, Chater CL, Sumner CJ, Rodríguez DN, Russello S, Gardner AF, Slatko BE, Stewart FJ, Sinicropi D, Morlan J, Qu K, Dimalanta ET, Davis TB.

Curr Protoc Mol Biol. 2016 Jan;113(1):7.22.1-7.22.9. doi: 10.1002/0471142727.mb0722s113.

PMID:
31773915
42.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC).

Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.

43.

Stream segregation in the anesthetized auditory cortex.

Scholes C, Palmer AR, Sumner CJ.

Hear Res. 2015 Oct;328:48-58. doi: 10.1016/j.heares.2015.07.004. Epub 2015 Jul 9.

44.

Psychopharmacologic Management in Integrated Care: Challenges for Residency Education.

Badre N, Baron D, Gross L, Goin M, Pine J, Slaby A, Sumner C.

Acad Psychiatry. 2015 Aug;39(4):466-9. doi: 10.1007/s40596-015-0350-9. Epub 2015 Jun 3.

PMID:
26036347
45.

Astrocytes influence the severity of spinal muscular atrophy.

Rindt H, Feng Z, Mazzasette C, Glascock JJ, Valdivia D, Pyles N, Crawford TO, Swoboda KJ, Patitucci TN, Ebert AD, Sumner CJ, Ko CP, Lorson CL.

Hum Mol Genet. 2015 Jul 15;24(14):4094-102. doi: 10.1093/hmg/ddv148. Epub 2015 Apr 24.

46.

Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy.

Miller N, Feng Z, Edens BM, Yang B, Shi H, Sze CC, Hong BT, Su SC, Cantu JA, Topczewski J, Crawford TO, Ko CP, Sumner CJ, Ma L, Ma YC.

J Neurosci. 2015 Apr 15;35(15):6038-50. doi: 10.1523/JNEUROSCI.3716-14.2015.

47.

Spinal Muscular Atrophy Therapeutics: Where do we Stand?

d'Ydewalle C, Sumner CJ.

Neurotherapeutics. 2015 Apr;12(2):303-16. doi: 10.1007/s13311-015-0337-y. Review.

48.

Decision criterion dynamics in animals performing an auditory detection task.

Mill RW, Alves-Pinto A, Sumner CJ.

PLoS One. 2014 Dec 8;9(12):e114076. doi: 10.1371/journal.pone.0114076. eCollection 2014.

49.

A TRPV channel in Drosophila motor neurons regulates presynaptic resting Ca2+ levels, synapse growth, and synaptic transmission.

Wong CO, Chen K, Lin YQ, Chao Y, Duraine L, Lu Z, Yoon WH, Sullivan JM, Broadhead GT, Sumner CJ, Lloyd TE, Macleod GT, Bellen HJ, Venkatachalam K.

Neuron. 2014 Nov 19;84(4):764-77. doi: 10.1016/j.neuron.2014.09.030. Epub 2014 Oct 30.

50.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, Sumner CJ, Muntoni F, Piscosquito G, Ramchandren S, Shy R, Siskind CE, Yum SW, Moroni I, Pagliano E, Zuchner S, Scherer SS, Shy ME; Inherited Neuropathies Consortium.

J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):873-8. doi: 10.1136/jnnp-2014-308826. Epub 2014 Nov 27.

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