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ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response.

Anderson CJ, Bredvik K, Burstein SR, Davis C, Meadows SM, Dash J, Case L, Milner TA, Kawamata H, Zuberi A, Piersigilli A, Lutz C, Manfredi G.

Acta Neuropathol. 2019 Mar 14. doi: 10.1007/s00401-019-01989-y. [Epub ahead of print]


Stoichiometry controls activity of phase-separated clusters of actin signaling proteins.

Case LB, Zhang X, Ditlev JA, Rosen MK.

Science. 2019 Mar 8;363(6431):1093-1097. doi: 10.1126/science.aau6313.


ACES (Accelerated Chest Pain Evaluation With Stress Imaging) Protocols Eliminate Testing Disparities in Patients With Chest Pain.

Miller CD, Stopyra JP, Mahler SA, Case LD, Vasu S, Bell RA, Hundley WG.

Crit Pathw Cardiol. 2019 Mar;18(1):5-9. doi: 10.1097/HPC.0000000000000161.


Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.

Herbert M, Case LE, Rairikar M, Cope H, Bailey L, Austin SL, Kishnani PS.

Mol Genet Metab. 2019 Feb;126(2):106-116. doi: 10.1016/j.ymgme.2018.08.009. Epub 2018 Aug 23.


The Reach and Feasibility of an Interactive Lung Cancer Screening Decision Aid Delivered by Patient Portal.

Dharod A, Bellinger C, Foley K, Case LD, Miller D.

Appl Clin Inform. 2019 Jan;10(1):19-27. doi: 10.1055/s-0038-1676807. Epub 2019 Jan 9.


Safely Identifying Emergency Department Patients With Acute Chest Pain for Early Discharge.

Mahler SA, Lenoir KM, Wells BJ, Burke GL, Duncan PW, Case LD, Herrington DM, Diaz-Garelli JF, Futrell WM, Hiestand BC, Miller CD.

Circulation. 2018 Nov 27;138(22):2456-2468. doi: 10.1161/CIRCULATIONAHA.118.036528.


Commentary on "Progression of Ankle Plantarflexion Contractures and Functional Decline in Duchenne Muscular Dystrophy: Implications for Physical Therapy Management".

Case LE, Coats J.

Pediatr Phys Ther. 2019 Jan;31(1):67. doi: 10.1097/PEP.0000000000000574. No abstract available.


Physical Activity Levels of Children With Down Syndrome.

Fox B, Moffett GE, Kinnison C, Brooks G, Case LE.

Pediatr Phys Ther. 2019 Jan;31(1):33-41. doi: 10.1097/PEP.0000000000000556.


Mild cognitive impairment in long-term brain tumor survivors following brain irradiation.

Cramer CK, McKee N, Case LD, Chan MD, Cummings TL, Lesser GJ, Shaw EG, Rapp SR.

J Neurooncol. 2019 Jan;141(1):235-244. doi: 10.1007/s11060-018-03032-8. Epub 2018 Nov 7.


PIEZO2 mediates injury-induced tactile pain in mice and humans.

Szczot M, Liljencrantz J, Ghitani N, Barik A, Lam R, Thompson JH, Bharucha-Goebel D, Saade D, Necaise A, Donkervoort S, Foley AR, Gordon T, Case L, Bushnell MC, Bönnemann CG, Chesler AT.

Sci Transl Med. 2018 Oct 10;10(462). pii: eaat9892. doi: 10.1126/scitranslmed.aat9892.


A Transition Toolkit for Duchenne Muscular Dystrophy.

Trout CJ, Case LE, Clemens PR, McArthur A, Noritz G, Ritzo M, Wagner KR, Vroom E, Kennedy A.

Pediatrics. 2018 Oct;142(Suppl 2):S110-S117. doi: 10.1542/peds.2018-0333M.


Rehabilitation Management of the Patient With Duchenne Muscular Dystrophy.

Case LE, Apkon SD, Eagle M, Gulyas A, Juel L, Matthews D, Newton RA, Posselt HF.

Pediatrics. 2018 Oct;142(Suppl 2):S17-S33. doi: 10.1542/peds.2018-0333D.


Analysis of a Step-Up Approach Versus Primary Open Surgical Necrosectomy in the Management of Necrotizing Pancreatitis: Experience in a Cohort of Patients at a US Academic Medical Center.

Jones JD, Clark CJ, Dyer R, Case LD, Mishra G, Pawa R.

Pancreas. 2018 Nov/Dec;47(10):1317-1321. doi: 10.1097/MPA.0000000000001154.


Who's In and Who's Out-Compositional Control of Biomolecular Condensates.

Ditlev JA, Case LB, Rosen MK.

J Mol Biol. 2018 Nov 2;430(23):4666-4684. doi: 10.1016/j.jmb.2018.08.003. Epub 2018 Aug 9. Review.


Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.

Koeberl DD, Case LE, Smith EC, Walters C, Han SO, Li Y, Chen W, Hornik CP, Huffman KM, Kraus WE, Thurberg BL, Corcoran DL, Bali D, Bursac N, Kishnani PS.

Mol Ther. 2018 Sep 5;26(9):2304-2314. doi: 10.1016/j.ymthe.2018.06.023. Epub 2018 Jul 5.


Association Between Inflammatory Biomarker C-Reactive Protein and Radiotherapy-Induced Early Adverse Skin Reactions in a Multiracial/Ethnic Breast Cancer Population.

Hu JJ, Urbanic JJ, Case LD, Takita C, Wright JL, Brown DR, Langefeld CD, Lively MO, Mitchell SE, Thakrar A, Bryant D, Baglan K, Strasser J, Baez-Diaz L, Lesser GJ, Shaw EG.

J Clin Oncol. 2018 Aug 20;36(24):2473-2482. doi: 10.1200/JCO.2017.77.1790. Epub 2018 Jul 10.


Quality of life of irradiated brain tumor survivors treated with donepezil or placebo: Results of the WFU CCOP research base protocol 91105.

Naughton MJ, Case LD, Peiffer A, Chan M, Stieber V, Moore D, Falchuk S, Piephoff J, Edenfield W, Giguere J, Loghin M, Shaw EG, Rapp SR.

Neurooncol Pract. 2018 May;5(2):114-121. doi: 10.1093/nop/npx016. Epub 2017 Jul 6.


Self-reported adherence and biomarker levels of CoQ10 and alpha-tocopherol.

Vitolins MZ, Case LD, Rapp SR, Lively MO, Shaw EG, Naughton MJ, Giguere J, Lesser GJ.

Patient Prefer Adherence. 2018 Apr 24;12:637-646. doi: 10.2147/PPA.S158682. eCollection 2018.


Effect of a Digital Health Intervention on Receipt of Colorectal Cancer Screening in Vulnerable Patients: A Randomized Controlled Trial.

Miller DP Jr, Denizard-Thompson N, Weaver KE, Case LD, Troyer JL, Spangler JG, Lawler D, Pignone MP.

Ann Intern Med. 2018 Apr 17;168(8):550-557. doi: 10.7326/M17-2315. Epub 2018 Mar 13.


Guided Imagery Improves Mood, Fatigue, and Quality of Life in Individuals With Multiple Sclerosis: An Exploratory Efficacy Trial of Healing Light Guided Imagery.

Case LK, Jackson P, Kinkel R, Mills PJ.

J Evid Based Integr Med. 2018 Jan-Dec;23:2515690X17748744. doi: 10.1177/2515690X17748744.


Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.

Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, Case LE, Cripe L, Hadjiyannakis S, Olson AK, Sheehan DW, Bolen J, Weber DR, Ward LM; DMD Care Considerations Working Group.

Lancet Neurol. 2018 Apr;17(4):347-361. doi: 10.1016/S1474-4422(18)30025-5. Epub 2018 Feb 3. Review.


Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.

Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S, Street N, Tomezsko J, Wagner KR, Ward LM, Weber DR; DMD Care Considerations Working Group.

Lancet Neurol. 2018 Mar;17(3):251-267. doi: 10.1016/S1474-4422(18)30024-3. Epub 2018 Feb 3. Review. Erratum in: Lancet Neurol. 2018 Apr 4;:.


Effect of Autologous Cord Blood Infusion on Motor Function and Brain Connectivity in Young Children with Cerebral Palsy: A Randomized, Placebo-Controlled Trial.

Sun JM, Song AW, Case LE, Mikati MA, Gustafson KE, Simmons R, Goldstein R, Petry J, McLaughlin C, Waters-Pick B, Chen LW, Wease S, Blackwell B, Worley G, Troy J, Kurtzberg J.

Stem Cells Transl Med. 2017 Dec;6(12):2071-2078. doi: 10.1002/sctm.17-0102. Epub 2017 Oct 28.


Neurotensin Broadly Recruits Inhibition via White Matter Neurons in the Mouse Cerebral Cortex: Synaptic Mechanisms for Decorrelation.

Case L, Broberger C.

Cereb Cortex. 2018 Aug 1;28(8):2711-2724. doi: 10.1093/cercor/bhx149.


The 24-month metabolic benefits of the healthy living partnerships to prevent diabetes: A community-based translational study.

Pedley CF, Case LD, Blackwell CS, Katula JA, Vitolins MZ.

Diabetes Metab Syndr. 2018 May;12(3):215-220. doi: 10.1016/j.dsx.2017.09.011. Epub 2017 Sep 23.


Interventions for Gait Training in Children With Spinal Cord Impairments: A Scoping Review.

Funderburg SE, Josephson HE, Price AA, Russo MA, Case LE.

Pediatr Phys Ther. 2017 Oct;29(4):342-349. doi: 10.1097/PEP.0000000000000446. Review.


Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.

Rairikar MV, Case LE, Bailey LA, Kazi ZB, Desai AK, Berrier KL, Coats J, Gandy R, Quinones R, Kishnani PS.

Mol Genet Metab. 2017 Nov;122(3):99-107. doi: 10.1016/j.ymgme.2017.09.008. Epub 2017 Sep 19.


Neutralizing Antibody Responses to Viral Infections Are Linked to the Non-classical MHC Class II Gene H2-Ob.

Denzin LK, Khan AA, Virdis F, Wilks J, Kane M, Beilinson HA, Dikiy S, Case LK, Roopenian D, Witkowski M, Chervonsky AV, Golovkina TV.

Immunity. 2017 Aug 15;47(2):310-322.e7. doi: 10.1016/j.immuni.2017.07.013.


Inhibitory rTMS of secondary somatosensory cortex reduces intensity but not pleasantness of gentle touch.

Case LK, Laubacher CM, Richards EA, Spagnolo PA, Olausson H, Bushnell MC.

Neurosci Lett. 2017 Jul 13;653:84-91. doi: 10.1016/j.neulet.2017.05.006. Epub 2017 May 18.


Usability of a Novel Mobile Health iPad App by Vulnerable Populations.

Miller DP Jr, Weaver KE, Case LD, Babcock D, Lawler D, Denizard-Thompson N, Pignone MP, Spangler JG.

JMIR Mhealth Uhealth. 2017 Apr 11;5(4):e43. doi: 10.2196/mhealth.7268.


Modeling month-season of birth as a risk factor in mouse models of chronic disease: from multiple sclerosis to autoimmune encephalomyelitis.

Reynolds JD, Case LK, Krementsov DN, Raza A, Bartiss R, Teuscher C.

FASEB J. 2017 Jun;31(6):2709-2719. doi: 10.1096/fj.201700062. Epub 2017 Mar 14.


Genetic variation in chromosome Y regulates susceptibility to influenza A virus infection.

Krementsov DN, Case LK, Dienz O, Raza A, Fang Q, Ather JL, Poynter ME, Boyson JE, Bunn JY, Teuscher C.

Proc Natl Acad Sci U S A. 2017 Mar 28;114(13):3491-3496. doi: 10.1073/pnas.1620889114. Epub 2017 Feb 27.


The emerging phenotype of late-onset Pompe disease: A systematic literature review.

Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS.

Mol Genet Metab. 2017 Mar;120(3):163-172. doi: 10.1016/j.ymgme.2016.12.004. Epub 2016 Dec 11. Review.


A Randomized Double-Blind Placebo-Controlled Trial of Fruit and Vegetable Concentrates on Intermediate Biomarkers in Head and Neck Cancer.

Datta M, Shaw EG, Lesser GJ, Case LD, Vitolins MZ, Schneider C, Frizzell B, Sullivan C, Lively M, Franzmann E, Hu JJ.

Integr Cancer Ther. 2018 Mar;17(1):115-123. doi: 10.1177/1534735416684947. Epub 2017 Jan 19.


A Structural Model for Vinculin Insertion into PIP2-Containing Membranes and the Effect of Insertion on Vinculin Activation and Localization.

Thompson PM, Ramachandran S, Case LB, Tolbert CE, Tandon A, Pershad M, Dokholyan NV, Waterman CM, Campbell SL.

Structure. 2017 Feb 7;25(2):264-275. doi: 10.1016/j.str.2016.12.002. Epub 2017 Jan 12.


Detection of Lyme disease and anaplasmosis pathogens via PCR in Pennsylvania deer ked.

Buss M, Case L, Kearney B, Coleman C, Henning JD.

J Vector Ecol. 2016 Dec;41(2):292-294. doi: 10.1111/jvec.12225.


The healthy living partnerships to prevent diabetes and the diabetes prevention program: a comparison of year 1 and 2 intervention results.

Vitolins MZ, Isom SP, Blackwell CS, Kernodle D, Sydell JM, Pedley CF, Katula JA, Case LD, Goff DC Jr.

Transl Behav Med. 2017 Jun;7(2):371-378. doi: 10.1007/s13142-016-0447-z.


Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.

Austin SL, Chiou A, Sun B, Case LE, Govendrageloo K, Hansen P, Kishnani PS.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):96-100. doi: 10.1016/j.ymgme.2016.09.006. Epub 2016 Sep 28.


Physical Activity Participation of Disabled Children: A Systematic Review of Conceptual and Methodological Approaches in Health Research.

Ross SM, Bogart KR, Logan SW, Case L, Fine J, Thompson H.

Front Public Health. 2016 Sep 5;4:187. doi: 10.3389/fpubh.2016.00187. eCollection 2016. Review.


Natural genetic variation profoundly regulates gene expression in immune cells and dictates susceptibility to CNS autoimmunity.

Bearoff F, Del Rio R, Case LK, Dragon JA, Nguyen-Vu T, Lin CY, Blankenhorn EP, Teuscher C, Krementsov DN.

Genes Immun. 2016 Dec;17(7):386-395. doi: 10.1038/gene.2016.37. Epub 2016 Sep 22.


Altered White Matter and Sensory Response to Bodily Sensation in Female-to-Male Transgender Individuals.

Case LK, Brang D, Landazuri R, Viswanathan P, Ramachandran VS.

Arch Sex Behav. 2017 Jul;46(5):1223-1237. doi: 10.1007/s10508-016-0850-z. Epub 2016 Sep 19.


Physical therapy management of infants and children with hypophosphatasia.

Phillips D, Case LE, Griffin D, Hamilton K, Lara SL, Leiro B, Monfreda J, Westlake E, Kishnani PS.

Mol Genet Metab. 2016 Sep;119(1-2):14-9. doi: 10.1016/j.ymgme.2016.06.010. Epub 2016 Jun 22.


Standardized Rehabilitation and Hospital Length of Stay Among Patients With Acute Respiratory Failure: A Randomized Clinical Trial.

Morris PE, Berry MJ, Files DC, Thompson JC, Hauser J, Flores L, Dhar S, Chmelo E, Lovato J, Case LD, Bakhru RN, Sarwal A, Parry SM, Campbell P, Mote A, Winkelman C, Hite RD, Nicklas B, Chatterjee A, Young MP.

JAMA. 2016 Jun 28;315(24):2694-702. doi: 10.1001/jama.2016.7201.


Commentary on "Supported Standing in Boys With Duchenne Muscular Dystrophy".

Case LE, Coats J, Draper RM.

Pediatr Phys Ther. 2016 fall;28(3):330-1. doi: 10.1097/PEP.0000000000000286. No abstract available.


Encoding of Touch Intensity But Not Pleasantness in Human Primary Somatosensory Cortex.

Case LK, Laubacher CM, Olausson H, Wang B, Spagnolo PA, Bushnell MC.

J Neurosci. 2016 May 25;36(21):5850-60. doi: 10.1523/JNEUROSCI.1130-15.2016.


Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.

Shashi V, Petrovski S, Schoch K, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000265. doi: 10.1101/mcs.a000265.


Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.

Petrovski S, Shashi V, Petrou S, Schoch K, McSweeney KM, Dhindsa RS, Krueger B, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000257. doi: 10.1101/mcs.a000257.


Desynchronization of the Rat Cortical Network and Excitation of White Matter Neurons by Neurotensin.

Case L, Lyons DJ, Broberger C.

Cereb Cortex. 2017 Apr 1;27(4):2671-2685. doi: 10.1093/cercor/bhw100.


Touch Perception Altered by Chronic Pain and by Opioid Blockade.

Case LK, Čeko M, Gracely JL, Richards EA, Olausson H, Bushnell MC.

eNeuro. 2016 Mar 10;3(1). pii: ENEURO.0138-15.2016. doi: 10.1523/ENEURO.0138-15.2016. eCollection 2016 Jan-Feb.


HEART Pathway Accelerated Diagnostic Protocol Implementation: Prospective Pre-Post Interrupted Time Series Design and Methods.

Mahler SA, Burke GL, Duncan PW, Case LD, Herrington DM, Riley RF, Wells BJ, Hiestand BC, Miller CD.

JMIR Res Protoc. 2016 Jan 22;5(1):e10. doi: 10.2196/resprot.4802.

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