Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 483

1.

Interaction between ventricular expansion and structural changes in the corpus callosum and putamen in males with FMR1 normal and premutation alleles.

Wang JY, Hessl D, Tassone F, Kim K, Hagerman RJ, Rivera SM.

Neurobiol Aging. 2019 Sep 24. pii: S0197-4580(19)30330-6. doi: 10.1016/j.neurobiolaging.2019.09.009. [Epub ahead of print]

PMID:
31733943
2.

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 Nov;7(11):e956. doi: 10.1002/mgg3.956. Epub 2019 Sep 14.

3.

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.

4.

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
5.

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.

6.

Fentanyl overdose in a female with the FMR1 premutation and FXTAS.

El-Deeb M, Adams P, Schneider A, Salcedo-Arellano MJ, Tassone F, Hagerman R.

J Mol Genet (Isleworth). 2018 Nov;1(1). pii: 101. doi: 10.31038/JMG.1000101. Epub 2018 Apr 1.

7.

Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India.

Sachdeva A, Jain P, Gunasekaran V, Mahay SB, Mukherjee S, Hagerman R, Shankar S, Kapoor S, Kedia SN; Indian Academy of Pediatrics Consensus in Diagnosis and Management of Fragile X Syndrome Committee; Indian Academy of Pediatrics Consensus in Diagnosis and Management of Fragile X Syndrome Committee.

Indian Pediatr. 2019 Mar 15;56(3):221-228.

8.

Treatment of Fragile X Syndrome with Cannabidiol: A Case Series Study and Brief Review of the Literature.

Tartaglia N, Bonn-Miller M, Hagerman R.

Cannabis Cannabinoid Res. 2019 Mar 13;4(1):3-9. doi: 10.1089/can.2018.0053. eCollection 2019. Review.

9.

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
10.

Turning the tide on targeted treatments for neurodevelopmental disorders.

Hagerman R, Tuchman R.

Neurology. 2019 Apr 16;92(16):741-742. doi: 10.1212/WNL.0000000000007301. Epub 2019 Mar 27. No abstract available.

PMID:
30918096
11.

Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale.

Hall DA, Stebbins GT, Jacquemont S, Berry-Kravis E, Goetz CG, Hagerman R, Zhang L, Leehey MA.

Mov Disord Clin Pract. 2019 Jan 22;6(2):120-124. doi: 10.1002/mdc3.12708. eCollection 2019 Feb.

PMID:
30838310
12.

[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.

13.

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
14.

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.

15.

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.

16.

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.

17.

Microglial cell activation and senescence are characteristic of the pathology FXTAS.

Martínez Cerdeño V, Hong T, Amina S, Lechpammer M, Ariza J, Tassone F, Noctor SC, Hagerman P, Hagerman R.

Mov Disord. 2018 Dec;33(12):1887-1894. doi: 10.1002/mds.27553. Epub 2018 Dec 10.

18.

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.

19.

Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.

Hagerman R, Jacquemont S, Berry-Kravis E, Des Portes V, Stanfield A, Koumaras B, Rosenkranz G, Murgia A, Wolf C, Apostol G, von Raison F.

Sci Rep. 2018 Nov 19;8(1):16970. doi: 10.1038/s41598-018-34978-4.

20.

Fragile X syndrome and connective tissue dysregulation.

Ramírez-Cheyne JA, Duque GA, Ayala-Zapata S, Saldarriaga-Gil W, Hagerman P, Hagerman R, Payán-Gómez C.

Clin Genet. 2019 Feb;95(2):262-267. doi: 10.1111/cge.13469. Epub 2018 Nov 27. Review.

PMID:
30414172
21.

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
22.

Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism.

Wang XH, Yang JC, Soohoo R, Cotter D, Yuan M, Xia J, Yaqub S, Doty J, Niu YQ, Tassone F, Hagerman R, Zhang L, Olichney J.

Front Genet. 2018 Sep 18;9:327. doi: 10.3389/fgene.2018.00327. eCollection 2018.

23.

Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins.

Napoli E, Schneider A, Hagerman R, Song G, Wong S, Tassone F, Giulivi C.

Front Genet. 2018 Aug 27;9:338. doi: 10.3389/fgene.2018.00338. eCollection 2018.

24.

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
25.

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.

26.

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Jacquemont S, Pacini L, Jønch AE, Cencelli G, Rozenberg I, He Y, D'Andrea L, Pedini G, Eldeeb M, Willemsen R, Gasparini F, Tassone F, Hagerman R, Gomez-Mancilla B, Bagni C.

Hum Mol Genet. 2018 Nov 1;27(21):3825. doi: 10.1093/hmg/ddy291. No abstract available.

27.

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.

28.

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.

29.

General Anesthetic Use in Fragile X Spectrum Disorders.

Ligsay A, El-Deeb M, Salcedo-Arellano MJ, Schloemerkemper N, Grayson JS, Hagerman R.

J Neurosurg Anesthesiol. 2019 Jul;31(3):285-290. doi: 10.1097/ANA.0000000000000508.

PMID:
29734272
30.

Fragile X checklists: A meta-analysis and development of a simplified universal clinical checklist.

Lubala TK, Lumaka A, Kanteng G, Mutesa L, Mukuku O, Wembonyama S, Hagerman R, Luboya ON, Lukusa Tshilobo P.

Mol Genet Genomic Med. 2018 Apr 6. doi: 10.1002/mgg3.398. [Epub ahead of print]

31.

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Jacquemont S, Pacini L, Jønch AE, Cencelli G, Rozenberg I, He Y, D'Andrea L, Pedini G, Eldeeb M, Willemsen R, Gasparini F, Tassone F, Hagerman R, Gomez-Mancilla B, Bagni C.

Hum Mol Genet. 2018 Jun 15;27(12):2039-2051. doi: 10.1093/hmg/ddy099. Erratum in: Hum Mol Genet. 2018 Nov 1;27(21):3825.

32.

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
33.

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
34.

Fragile X syndrome and fragile X-associated disorders.

Rajaratnam A, Shergill J, Salcedo-Arellano M, Saldarriaga W, Duan X, Hagerman R.

F1000Res. 2017 Dec 8;6:2112. doi: 10.12688/f1000research.11885.1. eCollection 2017. Review.

35.

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.

Berry-Kravis EM, Lindemann L, Jønch AE, Apostol G, Bear MF, Carpenter RL, Crawley JN, Curie A, Des Portes V, Hossain F, Gasparini F, Gomez-Mancilla B, Hessl D, Loth E, Scharf SH, Wang PP, Von Raison F, Hagerman R, Spooren W, Jacquemont S.

Nat Rev Drug Discov. 2018 Apr;17(4):280-299. doi: 10.1038/nrd.2017.221. Epub 2017 Dec 8. Review.

PMID:
29217836
36.

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.

37.

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.

38.

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.

39.

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
40.

Distance delivery of a spoken language intervention for school-aged and adolescent boys with fragile X syndrome.

McDuffie A, Banasik A, Bullard L, Nelson S, Feigles RT, Hagerman R, Abbeduto L.

Dev Neurorehabil. 2018 Jan;21(1):48-63. doi: 10.1080/17518423.2017.1369189. Epub 2017 Sep 28.

41.

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.

42.

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.

43.

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.

44.

Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.

Bailey DB Jr, Berry-Kravis E, Gane LW, Guarda S, Hagerman R, Powell CM, Tassone F, Wheeler A.

Pediatrics. 2017 Jun;139(Suppl 3):S216-S225. doi: 10.1542/peds.2016-1159H.

45.

Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families.

Wheeler A, Raspa M, Hagerman R, Mailick M, Riley C.

Pediatrics. 2017 Jun;139(Suppl 3):S172-S182. doi: 10.1542/peds.2016-1159D. Review.

46.

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.

47.

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.

48.

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.

49.

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
50.

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.

Supplemental Content

Loading ...
Support Center