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Items: 1 to 50 of 226

1.

N-Acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease.

Sidhu R, Mondjinou Y, Qian M, Song H, Kumar AB, Hong X, Hsu FF, Dietzen DJ, Yanjanin NM, Porter FD, Berry-Kravis E, Vite CH, Gelb MH, Schaffer JE, Ory DS, Jiang X.

J Lipid Res. 2019 Jun 14. pii: jlr.RA119000157. doi: 10.1194/jlr.RA119000157. [Epub ahead of print]

2.

Preventive care services and health behaviors in children with fragile X syndrome.

Gilbertson KE, Jackson HL, Dziuban EJ, Sherman SL, Berry-Kravis EM, Erickson CA, Valdez R.

Disabil Health J. 2019 May 3. pii: S1936-6574(19)30064-0. doi: 10.1016/j.dhjo.2019.04.005. [Epub ahead of print]

PMID:
31118158
3.

Emerging pharmacological therapies in fragile X syndrome and autism.

Yamasue H, Aran A, Berry-Kravis E.

Curr Opin Neurol. 2019 Apr 30. doi: 10.1097/WCO.0000000000000703. [Epub ahead of print]

PMID:
31045620
4.

Mutation update for the SATB2 gene.

Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL.

Hum Mutat. 2019 Apr 25. doi: 10.1002/humu.23771. [Epub ahead of print]

PMID:
31021519
5.

Altered steady state and activity-dependent de novo protein expression in fragile X syndrome.

Bowling H, Bhattacharya A, Zhang G, Alam D, Lebowitz JZ, Bohm-Levine N, Lin D, Singha P, Mamcarz M, Puckett R, Zhou L, Aryal S, Sharp K, Kirshenbaum K, Berry-Kravis E, Neubert TA, Klann E.

Nat Commun. 2019 Apr 12;10(1):1710. doi: 10.1038/s41467-019-09553-8.

6.

Discovering translational biomarkers in neurodevelopmental disorders.

Sahin M, Jones SR, Sweeney JA, Berry-Kravis E, Connors BW, Ewen JB, Hartman AL, Levin AR, Potter WZ, Mamounas LA.

Nat Rev Drug Discov. 2018 Dec 20. doi: 10.1038/d41573-018-00010-7. [Epub ahead of print] No abstract available.

PMID:
30936503
7.

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.

Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Oosterholt S, Della Pasqua O, Glass L, Jones NE, Percy AK; Rett 002 Study Group.

Neurology. 2019 Apr 16;92(16):e1912-e1925. doi: 10.1212/WNL.0000000000007316. Epub 2019 Mar 27.

8.

Expression and Characterization of Human Fragile X Mental Retardation Protein Isoforms and Interacting Proteins in Human Cells.

Zhang J, Wang G, He WW, Losh M, Berry-Kravis E, Funk WE.

Proteomics Insights. 2019 Mar 3;10:1178641818825268. doi: 10.1177/1178641818825268. eCollection 2019.

9.

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
10.

Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities.

Weber JD, Smith E, Berry-Kravis E, Cadavid D, Hessl D, Erickson C.

Brain Sci. 2019 Jan 23;9(2). pii: E18. doi: 10.3390/brainsci9020018.

11.

Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.

Sivan Y, Zhou A, Jennings LJ, Berry-Kravis EM, Yu M, Zhou L, Rand CM, Weese-Mayer DE.

Am J Med Genet A. 2019 Mar;179(3):503-506. doi: 10.1002/ajmg.a.61047. Epub 2019 Jan 23.

PMID:
30672101
12.

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.

13.

Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective.

Lee AW, Ventola P, Budimirovic D, Berry-Kravis E, Visootsak J.

Brain Sci. 2018 Dec 5;8(12). pii: E214. doi: 10.3390/brainsci8120214. Review.

14.

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.

15.

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.

16.

Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.

Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M; Developmental Synaptopathies Consortium.

Pediatr Neurol. 2019 Jan;90:37-43. doi: 10.1016/j.pediatrneurol.2018.09.008. Epub 2018 Sep 21.

PMID:
30396833
17.

Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome.

O'Keefe JA, Robertson EE, Ouyang B, Carns D, McAsey A, Liu Y, Swanson M, Bernard B, Berry-Kravis E, Hall DA.

Gait Posture. 2018 Oct;66:288-293. doi: 10.1016/j.gaitpost.2018.09.005. Epub 2018 Sep 12.

PMID:
30243213
18.

Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.

Jiang X, Sidhu R, Orsini JJ, Farhat NY, Porter FD, Berry-Kravis E, Schaffer JE, Ory DS.

Mol Genet Metab. 2019 Feb;126(2):183-187. doi: 10.1016/j.ymgme.2018.08.007. Epub 2018 Aug 24.

PMID:
30172462
19.

ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome.

Vittal P, Pandya S, Sharp K, Berry-Kravis E, Zhou L, Ouyang B, Jackson J, Hall DA.

Neurol Genet. 2018 Jul 27;4(4):e246. doi: 10.1212/NXG.0000000000000246. eCollection 2018 Aug.

20.

Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome.

Mailick MR, Movaghar A, Hong J, Greenberg JS, DaWalt LS, Zhou L, Jackson J, Rathouz PJ, Baker MW, Brilliant M, Page D, Berry-Kravis E.

Front Genet. 2018 May 16;9:173. doi: 10.3389/fgene.2018.00173. eCollection 2018.

21.

Utility of the Hebb-Williams Maze Paradigm for Translational Research in Fragile X Syndrome: A Direct Comparison of Mice and Humans.

Boutet I, Collin CA, MacLeod LS, Messier C, Holahan MR, Berry-Kravis E, Gandhi RM, Kogan CS.

Front Mol Neurosci. 2018 Mar 28;11:99. doi: 10.3389/fnmol.2018.00099. eCollection 2018.

22.

Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin.

Berry-Kravis E, Chin J, Hoffmann A, Winston A, Stoner R, LaGorio L, Friedmann K, Hernandez M, Ory DS, Porter FD, O'Keefe JA.

Pediatr Neurol. 2018 Mar;80:24-34. doi: 10.1016/j.pediatrneurol.2017.12.014. Epub 2018 Jan 8.

23.

Fragile X syndrome and fragile X-associated tremor ataxia syndrome.

Hall DA, Berry-Kravis E.

Handb Clin Neurol. 2018;147:377-391. doi: 10.1016/B978-0-444-63233-3.00025-7. Review.

PMID:
29325626
24.

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
25.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lönnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM.

Am J Hum Genet. 2017 Nov 2;101(5):856-865. doi: 10.1016/j.ajhg.2017.09.020.

26.

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
27.

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.

28.

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.

29.

Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.

Kaufmann WE, Kidd SA, Andrews HF, Budimirovic DB, Esler A, Haas-Givler B, Stackhouse T, Riley C, Peacock G, Sherman SL, Brown WT, Berry-Kravis E.

Pediatrics. 2017 Jun;139(Suppl 3):S194-S206. doi: 10.1542/peds.2016-1159F.

30.

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.

Sherman SL, Kidd SA, Riley C, Berry-Kravis E, Andrews HF, Miller RM, Lincoln S, Swanson M, Kaufmann WE, Brown WT.

Pediatrics. 2017 Jun;139(Suppl 3):S183-S193. doi: 10.1542/peds.2016-1159E.

31.

The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary.

Riley C, Mailick M, Berry-Kravis E, Bolen J.

Pediatrics. 2017 Jun;139(Suppl 3):S147-S152. doi: 10.1542/peds.2016-1159B. No abstract available.

32.

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.

Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD.

Lancet. 2017 Oct 14;390(10104):1758-1768. doi: 10.1016/S0140-6736(17)31465-4. Epub 2017 Aug 10.

33.

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome.

Budimirovic DB, Berry-Kravis E, Erickson CA, Hall SS, Hessl D, Reiss AL, King MK, Abbeduto L, Kaufmann WE.

J Neurodev Disord. 2017 Jun 12;9:14. doi: 10.1186/s11689-017-9193-x. eCollection 2017. Review.

34.

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.

35.

Arbaclofen in fragile X syndrome: results of phase 3 trials.

Berry-Kravis E, Hagerman R, Visootsak J, Budimirovic D, Kaufmann WE, Cherubini M, Zarevics P, Walton-Bowen K, Wang P, Bear MF, Carpenter RL.

J Neurodev Disord. 2017 Jun 12;9:3. doi: 10.1186/s11689-016-9181-6. eCollection 2017.

36.

Erratum to: A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome.

Lee M, Martin GE, Berry-Kravis E, Losh M.

J Neurodev Disord. 2017 Mar 6;9:10. doi: 10.1186/s11689-017-9192-y. eCollection 2017.

37.

A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome.

Lee M, Martin GE, Berry-Kravis E, Losh M.

J Neurodev Disord. 2016 Dec 30;8:47. doi: 10.1186/s11689-016-9179-0. eCollection 2016. Erratum in: J Neurodev Disord. 2017 Mar 6;9:10.

38.

A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.

Hadd AG, Filipovic-Sadic S, Zhou L, Williams A, Latham GJ, Berry-Kravis E, Hall DA.

Clin Epigenetics. 2016 Dec 1;8:130. eCollection 2016.

39.

The Corpus Callosum Splenium Sign in Fragile X-Associated Tremor Ataxia Syndrome.

Hall DA, Hermanson M, Dunn E, Stebbins G, Merkitch D, Ouyang B, Berry-Kravis E, Jhaveri M.

Mov Disord Clin Pract. 2016 Nov 16;4(3):383-388. doi: 10.1002/mdc3.12449. eCollection 2017 May-Jun.

40.

Developmental profiles of infants with an FMR1 premutation.

Wheeler AC, Sideris J, Hagerman R, Berry-Kravis E, Tassone F, Bailey DB Jr.

J Neurodev Disord. 2016 Nov 3;8:40. eCollection 2016.

41.

Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.

van Karnebeek CD, Bowden K, Berry-Kravis E.

Pediatr Neurol. 2016 Dec;65:1-13. doi: 10.1016/j.pediatrneurol.2016.07.010. Epub 2016 Jul 26. Review.

PMID:
27697313
42.

Importance of a specialty clinic for individuals with fragile X syndrome.

Visootsak J, Kidd SA, Anderson T, Bassell JL, Sherman SL, Berry-Kravis EM.

Am J Med Genet A. 2016 Dec;170(12):3144-3149. doi: 10.1002/ajmg.a.37982. Epub 2016 Sep 20.

PMID:
27649377
43.

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
44.

The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions.

Hessl D, Sansone SM, Berry-Kravis E, Riley K, Widaman KF, Abbeduto L, Schneider A, Coleman J, Oaklander D, Rhodes KC, Gershon RC.

J Neurodev Disord. 2016 Sep 6;8(1):35. doi: 10.1186/s11689-016-9167-4. eCollection 2016.

45.

Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.

Debrey SM, Leehey MA, Klepitskaya O, Filley CM, Shah RC, Kluger B, Berry-Kravis E, Spector E, Tassone F, Hall DA.

Cerebellum. 2016 Oct;15(5):623-31. doi: 10.1007/s12311-016-0809-6.

PMID:
27372099
46.

Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.

Hall DA, Robertson E, Shelton AL, Losh MC, Mila M, Moreno EG, Gomez-Anson B, Martínez-Cerdeño V, Grigsby J, Lozano R, Hagerman R, Maria LS, Berry-Kravis E, O'Keefe JA.

Cerebellum. 2016 Oct;15(5):578-86. doi: 10.1007/s12311-016-0799-4. Review.

PMID:
27287737
47.

Development of a bile acid-based newborn screen for Niemann-Pick disease type C.

Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD, Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE, Ory DS.

Sci Transl Med. 2016 May 4;8(337):337ra63. doi: 10.1126/scitranslmed.aaf2326.

48.

X-inactivation in the clinical phenotype of fragile X premutation carrier sisters.

Hall DA, Robertson-Dick EE, O'Keefe JA, Hadd AG, Zhou L, Berry-Kravis E.

Neurol Genet. 2016 Feb 3;2(1):e45. doi: 10.1212/NXG.0000000000000045. eCollection 2016 Feb.

49.

Mavoglurant in adolescents with fragile X syndrome: analysis of Clinical Global Impression-Improvement source data from a double-blind therapeutic study followed by an open-label, long-term extension study.

Bailey DB Jr, Berry-Kravis E, Wheeler A, Raspa M, Merrien F, Ricart J, Koumaras B, Rosenkranz G, Tomlinson M, von Raison F, Apostol G.

J Neurodev Disord. 2016;8:1. doi: 10.1186/s11689-015-9134-5. Epub 2015 Dec 15.

50.

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.

Berry-Kravis E, Des Portes V, Hagerman R, Jacquemont S, Charles P, Visootsak J, Brinkman M, Rerat K, Koumaras B, Zhu L, Barth GM, Jaecklin T, Apostol G, von Raison F.

Sci Transl Med. 2016 Jan 13;8(321):321ra5. doi: 10.1126/scitranslmed.aab4109.

PMID:
26764156

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