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Items: 1 to 20 of 597

1.

Response to Newman et al.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.164. Epub 2017 Oct 26. No abstract available.

PMID:
29215644
2.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.

Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

PMID:
29100083
3.

Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction.

Burger BJ, Rose S, Bennuri SC, Gill PS, Tippett ML, Delhey L, Melnyk S, Frye RE.

Front Pediatr. 2017 Oct 12;5:219. doi: 10.3389/fped.2017.00219. eCollection 2017.

4.

Mitochondrial dysfunction in the gastrointestinal mucosa of children with autism: A blinded case-control study.

Rose S, Bennuri SC, Murray KF, Buie T, Winter H, Frye RE.

PLoS One. 2017 Oct 13;12(10):e0186377. doi: 10.1371/journal.pone.0186377. eCollection 2017.

5.

Bioenergetic variation is related to autism symptomatology.

Delhey L, Kilinc EN, Yin L, Slattery J, Tippett M, Wynne R, Rose S, Kahler S, Damle S, Legido A, Goldenthal MJ, Frye RE.

Metab Brain Dis. 2017 Dec;32(6):2021-2031. doi: 10.1007/s11011-017-0087-0. Epub 2017 Aug 29.

6.

Novel biomarkers of metabolic dysfunction is autism spectrum disorder: potential for biological diagnostic markers.

Khemakhem AM, Frye RE, El-Ansary A, Al-Ayadhi L, Bacha AB.

Metab Brain Dis. 2017 Dec;32(6):1983-1997. doi: 10.1007/s11011-017-0085-2. Epub 2017 Aug 22.

PMID:
28831647
7.

Folate metabolism abnormalities in autism: potential biomarkers.

Frye RE, Slattery JC, Quadros EV.

Biomark Med. 2017 Aug 3. doi: 10.2217/bmm-2017-0109. [Epub ahead of print]

PMID:
28770615
8.
9.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. Review.

PMID:
28749475
10.

The Putative Role of Environmental Mercury in the Pathogenesis and Pathophysiology of Autism Spectrum Disorders and Subtypes.

Morris G, Puri BK, Frye RE, Maes M.

Mol Neurobiol. 2017 Jul 22. doi: 10.1007/s12035-017-0692-2. [Epub ahead of print] Review.

PMID:
28733900
11.

Common Brain Structure Findings Across Children with Varied Reading Disability Profiles.

Eckert MA, Vaden KI Jr, Maxwell AB, Cute SL, Gebregziabher M, Berninger VW; Dyslexia Data Consortium.

Sci Rep. 2017 Jul 20;7(1):6009. doi: 10.1038/s41598-017-05691-5.

12.

Oxidative Stress Challenge Uncovers Trichloroacetaldehyde Hydrate-Induced Mitoplasticity in Autistic and Control Lymphoblastoid Cell Lines.

Frye RE, Rose S, Wynne R, Bennuri SC, Blossom S, Gilbert KM, Heilbrun L, Palmer RF.

Sci Rep. 2017 Jun 30;7(1):4478. doi: 10.1038/s41598-017-04821-3.

13.

Multiarterial grafts improve the rate of early major adverse cardiac and cerebrovascular events in patients undergoing coronary revascularization: analysis of 12 615 patients with multivessel disease.

Locker C, Schaff HV, Daly RC, Bell MR, Frye RL, Stulak JM, Said SM, Dearani JA, Joyce LD, Greason KL, Pochettino A, Li Z, Lennon RJ, Lerman A.

Eur J Cardiothorac Surg. 2017 Oct 1;52(4):746-752. doi: 10.1093/ejcts/ezx171.

PMID:
28595326
14.

Concentration-dependent response to pioglitazone in nonalcoholic steatohepatitis.

Kawaguchi-Suzuki M, Bril F, Kalavalapalli S, Cusi K, Frye RF.

Aliment Pharmacol Ther. 2017 Jul;46(1):56-61. doi: 10.1111/apt.14111. Epub 2017 May 3.

PMID:
28470881
15.

The effect of milk thistle (Silybum marianum) and its main flavonolignans on CYP2C8 enzyme activity in human liver microsomes.

Albassam AA, Frye RF, Markowitz JS.

Chem Biol Interact. 2017 Jun 1;271:24-29. doi: 10.1016/j.cbi.2017.04.025. Epub 2017 Apr 27.

PMID:
28457856
16.

Presence of arachidonoyl-carnitine is associated with adverse cardiometabolic responses in hypertensive patients treated with atenolol.

Weng L, Gong Y, Culver J, Gardell SJ, Petucci C, Morse AM, Frye RF, Turner ST, Chapman A, Boerwinkle E, Gums J, Beitelshees AL, Borum PR, Johnson JA, Garrett TJ, McIntyre LM, Cooper-DeHoff RM.

Metabolomics. 2016 Oct;12(10). pii: 160. doi: 10.1007/s11306-016-1098-2. Epub 2016 Sep 15.

17.

Novel plasma biomarker of atenolol-induced hyperglycemia identified through a metabolomics-genomics integrative approach.

de Oliveira FA, Shahin MH, Gong Y, McDonough CW, Beitelshees AL, Gums JG, Chapman AB, Boerwinkle E, Turner ST, Frye RF, Fiehn O, Kaddurah-Daouk R, Johnson JA, Cooper-DeHoff RM.

Metabolomics. 2016 Aug;12(8). pii: 129. doi: 10.1007/s11306-016-1076-8. Epub 2016 Jul 13.

18.

The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder.

Delhey LM, Nur Kilinc E, Yin L, Slattery JC, Tippett ML, Rose S, Bennuri SC, Kahler SG, Damle S, Legido A, Goldenthal MJ, Frye RE.

J Clin Med. 2017 Feb 13;6(2). pii: E18. doi: 10.3390/jcm6020018.

19.

Thyroid dysfunction in children with autism spectrum disorder is associated with folate receptor α autoimmune disorder.

Frye RE, Wynne R, Rose S, Slattery J, Delhey L, Tippett M, Kahler SG, Bennuri SC, Melnyk S, Sequeira JM, Quadros EV.

J Neuroendocrinol. 2017 Mar;29(3). doi: 10.1111/jne.12461.

PMID:
28199771
20.

Cholelithiasis and Biliary Cirrhosis in a 28-Year-Old Man.

Francis FF, Frye R, Hashash JG.

Clin Gastroenterol Hepatol. 2017 May;15(5):A31-A32. doi: 10.1016/j.cgh.2017.01.013. Epub 2017 Jan 24. No abstract available.

PMID:
28130149

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