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Items: 1 to 50 of 340

1.

Metformin treatment in young children with fragile X syndrome.

Biag HMB, Potter LA, Wilkins V, Afzal S, Rosvall A, Salcedo-Arellano MJ, Rajaratnam A, Manzano-Nunez R, Schneider A, Tassone F, Rivera SM, Hagerman RJ.

Mol Genet Genomic Med. 2019 Sep 14:e956. doi: 10.1002/mgg3.956. [Epub ahead of print]

2.

Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome.

Ma L, Herren AW, Espinal G, Randol J, McLaughlin B, Martinez-Cerdeño V, Pessah IN, Hagerman RJ, Hagerman PJ.

Acta Neuropathol Commun. 2019 Sep 3;7(1):143. doi: 10.1186/s40478-019-0796-1.

3.

New Targeted Treatments in Fragile X Syndrome.

Protic D, Salcedo-Arellano MJ, Dy JB, Potter LA, Hagerman RJ.

Curr Pediatr Rev. 2019 Jun 25. doi: 10.2174/1573396315666190625110748. [Epub ahead of print]

PMID:
31241016
4.

Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin-two cases.

Protic D, Aydin EY, Tassone F, Tan MM, Hagerman RJ, Schneider A.

Mol Genet Genomic Med. 2019 Jul;7(7):e00745. doi: 10.1002/mgg3.745. Epub 2019 May 18.

5.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum.

Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM Jr, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT.

Genet Med. 2019 Sep;21(9):2059-2069. doi: 10.1038/s41436-019-0473-6. Epub 2019 Mar 29.

PMID:
30923367
6.

[Fragile X associated tremor/ataxia syndrome: its clinical presentation, pathology, and treatment].

Salcedo-Arellano MJ, Hagerman RJ, Martinez-Cerdeno V.

Rev Neurol. 2019 Mar 1;68(5):199-206. doi: 10.33588/rn.6805.2018457. Review. Spanish.

7.

EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study.

Nicotera AG, Hagerman RJ, Catania MV, Buono S, Di Nuovo S, Liprino EM, Stracuzzi E, Giusto S, Di Vita G, Musumeci SA.

J Autism Dev Disord. 2019 Jun;49(6):2337-2347. doi: 10.1007/s10803-019-03908-2.

PMID:
30726535
8.

Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome.

Hessl D, Harvey D, Sansone S, Crestodina C, Chin J, Joshi R, Hagerman RJ, Berry-Kravis E.

PLoS One. 2019 Jan 17;14(1):e0209984. doi: 10.1371/journal.pone.0209984. eCollection 2019.

9.

Widespread RNA editing dysregulation in brains from autistic individuals.

Tran SS, Jun HI, Bahn JH, Azghadi A, Ramaswami G, Van Nostrand EL, Nguyen TB, Hsiao YE, Lee C, Pratt GA, Martínez-Cerdeño V, Hagerman RJ, Yeo GW, Geschwind DH, Xiao X.

Nat Neurosci. 2019 Jan;22(1):25-36. doi: 10.1038/s41593-018-0287-x. Epub 2018 Dec 17.

10.

Best Practices in Fragile X Syndrome Treatment Development.

Erickson CA, Kaufmann WE, Budimirovic DB, Lachiewicz A, Haas-Givler B, Miller RM, Weber JD, Abbeduto L, Hessl D, Hagerman RJ, Berry-Kravis E.

Brain Sci. 2018 Dec 15;8(12). pii: E224. doi: 10.3390/brainsci8120224.

11.

Fragile X-Associated Neuropsychiatric Disorders (FXAND).

Hagerman RJ, Protic D, Rajaratnam A, Salcedo-Arellano MJ, Aydin EY, Schneider A.

Front Psychiatry. 2018 Nov 13;9:564. doi: 10.3389/fpsyt.2018.00564. eCollection 2018. Review.

12.

Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia.

Saldarriaga W, Salcedo-Arellano MJ, Rodriguez-Guerrero T, Ríos M, Fandiño-Losada A, Ramirez-Cheyne J, Lein PJ, Tassone F, Hagerman RJ.

Int J Dev Neurosci. 2019 Feb;72:1-5. doi: 10.1016/j.ijdevneu.2018.10.002. Epub 2018 Oct 29.

PMID:
30385191
13.

Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in Fragile X-Associated Tremor/Ataxia Syndrome: a Pilot Study.

Napoli E, Schneider A, Wang JY, Trivedi A, Carrillo NR, Tassone F, Rogawski M, Hagerman RJ, Giulivi C.

Mol Neurobiol. 2019 May;56(5):3702-3713. doi: 10.1007/s12035-018-1330-3. Epub 2018 Sep 5.

PMID:
30187385
14.

Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia.

Famula JL, McKenzie F, McLennan YA, Grigsby J, Tassone F, Hessl D, Rivera SM, Martinez-Cerdeno V, Hagerman RJ.

Front Neurol. 2018 Aug 22;9:695. doi: 10.3389/fneur.2018.00695. eCollection 2018.

15.

Middle Cerebellar Peduncle Width-A Novel MRI Biomarker for FXTAS?

Shelton AL, Wang JY, Fourie E, Tassone F, Chen A, Frizzi L, Hagerman RJ, Ferrer E, Hessl D, Rivera SM.

Front Neurosci. 2018 Jun 25;12:379. doi: 10.3389/fnins.2018.00379. eCollection 2018.

16.

Fragile X-Associated Tremor/Ataxia Syndrome: Unmet Needs and a Path for the Future.

Hall DA, Hagerman RJ.

Front Genet. 2018 Jun 7;9:100. doi: 10.3389/fgene.2018.00100. eCollection 2018. No abstract available.

17.

Genetic cluster of fragile X syndrome in a Colombian district.

Saldarriaga W, Forero-Forero JV, González-Teshima LY, Fandiño-Losada A, Isaza C, Tovar-Cuevas JR, Silva M, Choudhary NS, Tang HT, Aguilar-Gaxiola S, Hagerman RJ, Tassone F.

J Hum Genet. 2018 Apr;63(4):509-516. doi: 10.1038/s10038-017-0407-6. Epub 2018 Jan 29.

PMID:
29379191
18.

Children With Fragile X Syndrome Display Threat-Specific Biases Toward Emotion.

Burris JL, Barry-Anwar RA, Sims RN, Hagerman RJ, Tassone F, Rivera SM.

Biol Psychiatry Cogn Neurosci Neuroimaging. 2017 Sep;2(6):487-492. doi: 10.1016/j.bpsc.2017.06.003. Epub 2017 Jun 21.

PMID:
29348038
19.

Rare FMR1 gene mutations causing fragile X syndrome: A review.

Sitzmann AF, Hagelstrom RT, Tassone F, Hagerman RJ, Butler MG.

Am J Med Genet A. 2018 Jan;176(1):11-18. doi: 10.1002/ajmg.a.38504. Epub 2017 Nov 27. Review.

20.

Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?

Manor E, Jabareen A, Magal N, Kofman A, Hagerman RJ, Tassone F.

Front Genet. 2017 Nov 3;8:158. doi: 10.3389/fgene.2017.00158. eCollection 2017.

21.

Clinical and molecular correlates in fragile X premutation females.

Jiraanont P, Sweha SR, AlOlaby RR, Silva M, Tang HT, Durbin-Johnson B, Schneider A, Espinal GM, Hagerman PJ, Rivera SM, Hessl D, Hagerman RJ, Chutabhakdikul N, Tassone F.

eNeurologicalSci. 2017 Jun;7:49-56. doi: 10.1016/j.ensci.2017.04.003. Epub 2017 Apr 11.

22.

Fragile X syndrome.

Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB Jr, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ.

Nat Rev Dis Primers. 2017 Sep 29;3:17065. doi: 10.1038/nrdp.2017.65. Review.

PMID:
28960184
23.

Size and methylation mosaicism in males with Fragile X syndrome.

Jiraanont P, Kumar M, Tang HT, Espinal G, Hagerman PJ, Hagerman RJ, Chutabhakdikul N, Tassone F.

Expert Rev Mol Diagn. 2017 Nov;17(11):1023-1032. doi: 10.1080/14737159.2017.1377612.

24.

Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases.

Lechpammer M, Martínez Cerdeńo V, Hunsaker MR, Hah M, Gonzales H, Tisch S, Joffe R, Pamphlett R, Tassone F, Hagerman PJ, Bolitho SJ, Hagerman RJ.

Croat Med J. 2017 Aug 31;58(4):310-315.

25.

Effect of the mGluR5-NAM Basimglurant on Behavior in Adolescents and Adults with Fragile X Syndrome in a Randomized, Double-Blind, Placebo-Controlled Trial: FragXis Phase 2 Results.

Youssef EA, Berry-Kravis E, Czech C, Hagerman RJ, Hessl D, Wong CY, Rabbia M, Deptula D, John A, Kinch R, Drewitt P, Lindemann L, Marcinowski M, Langland R, Horn C, Fontoura P, Santarelli L, Quiroz JA; FragXis Study Group.

Neuropsychopharmacology. 2018 Feb;43(3):503-512. doi: 10.1038/npp.2017.177. Epub 2017 Aug 17.

26.

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome.

Ligsay A, Van Dijck A, Nguyen DV, Lozano R, Chen Y, Bickel ES, Hessl D, Schneider A, Angkustsiri K, Tassone F, Ceulemans B, Kooy RF, Hagerman RJ.

J Neurodev Disord. 2017 Aug 2;9(1):26. doi: 10.1186/s11689-017-9207-8.

27.

Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome.

Wang JY, Trivedi AM, Carrillo NR, Yang J, Schneider A, Giulivi C, Adams P, Tassone F, Kim K, Rivera SM, Lubarr N, Wu CY, Irwin RW, Brinton RD, Olichney JM, Rogawski MA, Hagerman RJ.

Neurotherapeutics. 2017 Oct;14(4):1073-1083. doi: 10.1007/s13311-017-0555-6.

28.

Fragile X Syndrome: Prevalence, Treatment, and Prevention in China.

Niu M, Han Y, Dy ABC, Du J, Jin H, Qin J, Zhang J, Li Q, Hagerman RJ.

Front Neurol. 2017 Jun 6;8:254. doi: 10.3389/fneur.2017.00254. eCollection 2017. Review.

29.

Autism Symptoms in Fragile X Syndrome.

Niu M, Han Y, Dy ABC, Du J, Jin H, Qin J, Zhang J, Li Q, Hagerman RJ.

J Child Neurol. 2017 Sep;32(10):903-909. doi: 10.1177/0883073817712875. Epub 2017 Jun 15. Review.

PMID:
28617074
30.

Fragile X targeted pharmacotherapy: lessons learned and future directions.

Erickson CA, Davenport MH, Schaefer TL, Wink LK, Pedapati EV, Sweeney JA, Fitzpatrick SE, Brown WT, Budimirovic D, Hagerman RJ, Hessl D, Kaufmann WE, Berry-Kravis E.

J Neurodev Disord. 2017 Jun 12;9:7. doi: 10.1186/s11689-017-9186-9. eCollection 2017. Review.

31.

The Gut Microbiota and Autism Spectrum Disorders.

Li Q, Han Y, Dy ABC, Hagerman RJ.

Front Cell Neurosci. 2017 Apr 28;11:120. doi: 10.3389/fncel.2017.00120. eCollection 2017. Review.

32.

Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation.

Wang JY, Hessl D, Hagerman RJ, Simon TJ, Tassone F, Ferrer E, Rivera SM.

Neurobiol Aging. 2017 Jul;55:11-19. doi: 10.1016/j.neurobiolaging.2017.03.018. Epub 2017 Mar 18.

33.

Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome.

AlOlaby RR, Sweha SR, Silva M, Durbin-Johnson B, Yrigollen CM, Pretto D, Hagerman RJ, Tassone F.

Brain Dev. 2017 Jun;39(6):483-492. doi: 10.1016/j.braindev.2017.01.012. Epub 2017 Feb 24.

34.

Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis.

Yrigollen CM, Pacini L, Nobile V, Lozano R, Hagerman RJ, Bagni C, Tassone F.

J Genet Disord Genet Rep. 2016;5(3). pii: 139. doi: 10.4172/2327-5790.1000139. Epub 2016 Jul 15.

35.

Molecular analyses of neurogenic defects in a human pluripotent stem cell model of fragile X syndrome.

Boland MJ, Nazor KL, Tran HT, Szücs A, Lynch CL, Paredes R, Tassone F, Sanna PP, Hagerman RJ, Loring JF.

Brain. 2017 Mar 1;140(3):582-598. doi: 10.1093/brain/aww357.

36.

Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder.

Thurman AJ, McDuffie A, Hagerman RJ, Josol CK, Abbeduto L.

J Autism Dev Disord. 2017 Mar;47(3):728-743. doi: 10.1007/s10803-016-3003-2.

37.

The neurobiology of the Prader-Willi phenotype of fragile X syndrome.

Muzar Z, Lozano R, Kolevzon A, Hagerman RJ.

Intractable Rare Dis Res. 2016 Nov;5(4):255-261. Review.

38.

Alcohol use dependence in fragile X syndrome.

Salcedo-Arellano MJ, Lozano R, Tassone F, Hagerman RJ, Saldarriaga W.

Intractable Rare Dis Res. 2016 Aug;5(3):207-13. doi: 10.5582/irdr.2016.01046.

39.

Review of targeted treatments in fragile X syndrome.

Ligsay A, Hagerman RJ.

Intractable Rare Dis Res. 2016 Aug;5(3):158-67. doi: 10.5582/irdr.2016.01045. Review.

40.

Fragile X syndrome: A review of clinical management.

Lozano R, Azarang A, Wilaisakditipakorn T, Hagerman RJ.

Intractable Rare Dis Res. 2016 Aug;5(3):145-57. doi: 10.5582/irdr.2016.01048. Review.

41.

Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome.

Seritan AL, Kim K, Benjamin I, Seritan I, Hagerman RJ.

J Geriatr Psychiatry Neurol. 2016 Nov;29(6):328-337. doi: 10.1177/0891988716666379. Epub 2016 Sep 21.

42.

Clinicians' experiences with the fragile X clinical and research consortium.

Liu JA, Hagerman RJ, Miller RM, Craft LT, Finucane B, Tartaglia N, Berry-Kravis EM, Sherman SL, Kidd SA, Cohen J.

Am J Med Genet A. 2016 Dec;170(12):3138-3143. doi: 10.1002/ajmg.a.37948. Epub 2016 Sep 8.

PMID:
27604509
43.

A Randomized, Double-Blind, Placebo-Controlled Trial of Low-Dose Sertraline in Young Children With Fragile X Syndrome.

Greiss Hess L, Fitzpatrick SE, Nguyen DV, Chen Y, Gaul KN, Schneider A, Lemons Chitwood K, Eldeeb MA, Polussa J, Hessl D, Rivera S, Hagerman RJ.

J Dev Behav Pediatr. 2016 Oct;37(8):619-28. doi: 10.1097/DBP.0000000000000334.

44.

Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome.

Jiraanont P, Hagerman RJ, Neri G, Zollino M, Murdolo M, Tassone F.

Eur J Med Genet. 2016 Sep;59(9):459-62. doi: 10.1016/j.ejmg.2016.08.009. Epub 2016 Aug 18.

PMID:
27546052
45.

Broad autism spectrum and obsessive-compulsive symptoms in adults with the fragile X premutation.

Schneider A, Johnston C, Tassone F, Sansone S, Hagerman RJ, Ferrer E, Rivera SM, Hessl D.

Clin Neuropsychol. 2016 Aug;30(6):929-43. doi: 10.1080/13854046.2016.1189536. Epub 2016 Jun 29.

46.

Clinically significant psychiatric symptoms among male carriers of the fragile X premutation, with and without FXTAS, and the mediating influence of executive functioning.

Grigsby J, Brega AG, Bennett RE, Bourgeois JA, Seritan AL, Goodrich GK, Hagerman RJ.

Clin Neuropsychol. 2016 Aug;30(6):944-59. doi: 10.1080/13854046.2016.1185100. Epub 2016 Jun 29.

47.

Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management.

Hagerman RJ, Hagerman P.

Nat Rev Neurol. 2016 Jul;12(7):403-12. doi: 10.1038/nrneurol.2016.82. Epub 2016 Jun 24. Review.

PMID:
27340021
48.

Robust Machine Learning-Based Correction on Automatic Segmentation of the Cerebellum and Brainstem.

Wang JY, Ngo MM, Hessl D, Hagerman RJ, Rivera SM.

PLoS One. 2016 May 23;11(5):e0156123. doi: 10.1371/journal.pone.0156123. eCollection 2016.

49.

Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial.

Yang JC, Rodriguez A, Royston A, Niu YQ, Avar M, Brill R, Simon C, Grigsby J, Hagerman RJ, Olichney JM.

Sci Rep. 2016 Feb 22;6:21719. doi: 10.1038/srep21719.

50.

Identification of a male with fragile X syndrome through newborn screening.

Famula J, Basuta K, Gane LW, Hagerman RJ, Tassone F.

Intractable Rare Dis Res. 2015 Nov;4(4):198-202. doi: 10.5582/irdr.2015.01031.

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