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Items: 1 to 50 of 208

1.

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 Sep 12;66:288-293. doi: 10.1016/j.gaitpost.2018.09.005. [Epub ahead of print]

PMID:
30243213
2.

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. 2018 Aug 24. pii: S1096-7192(18)30400-1. doi: 10.1016/j.ymgme.2018.08.007. [Epub ahead of print]

PMID:
30172462
3.

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.

4.

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.

5.

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.

6.

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.

PMID:
29429782
7.

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
8.

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
9.

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.

10.

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
11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

PMID:
28803710
17.

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.

18.

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.

19.

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.

20.

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.

21.

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.

22.

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.

23.

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.

24.

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
25.

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
26.

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
27.

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.

28.

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
29.

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
30.

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.

31.

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.

32.

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.

33.

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
34.

Cognitive trajectories in rare neurogenetic diseases: minding the gaps and filling the potholes.

Berry-Kravis E.

Dev Med Child Neurol. 2016 Mar;58(3):221-2. doi: 10.1111/dmcn.13018. Epub 2016 Jan 12. No abstract available.

35.

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.

Barclay SF, Rand CM, Gray PA, Gibson WT, Wilson RJ, Berry-Kravis EM, Ize-Ludlow D, Bech-Hansen NT, Weese-Mayer DE.

Respir Physiol Neurobiol. 2016 Jan 15;221:59-63. doi: 10.1016/j.resp.2015.11.002. Epub 2015 Nov 10.

PMID:
26555080
36.

Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.

Charnay AJ, Antisdel-Lomaglio JE, Zelko FA, Rand CM, Le M, Gordon SC, Vitez SF, Tse JW, Brogadir CD, Nelson MN, Berry-Kravis EM, Weese-Mayer DE.

Chest. 2016 Mar;149(3):809-15. doi: 10.1378/chest.15-0402. Epub 2016 Jan 12.

PMID:
26378991
37.

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.

Barclay SF, Rand CM, Borch LA, Nguyen L, Gray PA, Gibson WT, Wilson RJ, Gordon PM, Aung Z, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE, Bech-Hansen NT.

Orphanet J Rare Dis. 2015 Aug 25;10:103. doi: 10.1186/s13023-015-0314-x.

38.

Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.

O'Keefe JA, Robertson-Dick EE, Hall DA, Berry-Kravis E.

Cerebellum. 2016 Aug;15(4):475-82. doi: 10.1007/s12311-015-0714-4.

PMID:
26298472
39.

Neurological and endocrine phenotypes of fragile X carrier women.

Hall D, Todorova-Koteva K, Pandya S, Bernard B, Ouyang B, Walsh M, Pounardjian T, Deburghraeve C, Zhou L, Losh M, Leehey M, Berry-Kravis E.

Clin Genet. 2016 Jan;89(1):60-7. doi: 10.1111/cge.12646. Epub 2015 Sep 4.

40.

Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening.

Bailey DB Jr, Wheeler A, Berry-Kravis E, Hagerman R, Tassone F, Powell CM, Roche M, Gane LW, Sideris J.

Pediatrics. 2015 Aug;136(2):e433-40. doi: 10.1542/peds.2015-0414. Epub 2015 Jul 13.

41.

Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back.

Gross C, Hoffmann A, Bassell GJ, Berry-Kravis EM.

Neurotherapeutics. 2015 Jul;12(3):584-608. doi: 10.1007/s13311-015-0355-9. Review.

42.

White matter disease and cognitive impairment in FMR1 premutation carriers.

Filley CM, Brown MS, Onderko K, Ray M, Bennett RE, Berry-Kravis E, Grigsby J.

Neurology. 2015 May 26;84(21):2146-52. doi: 10.1212/WNL.0000000000001612. Epub 2015 Apr 29.

43.

Erratum: Emerging topics in FXTAS.

Hall DA, Birch RC, Anheim M, Jønch AE, Pintado E, O'Keefe JA, Trollor JN, Stebbins GT, Hagerman RJ, Fahn S, Berry-Kravis E, Leehey MA.

J Neurodev Disord. 2015;7(1):13. doi: 10.1186/s11689-015-9108-7. Epub 2015 Apr 8.

44.

Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

O'Keefe JA, Robertson-Dick E, Dunn EJ, Li Y, Deng Y, Fiutko AN, Berry-Kravis E, Hall DA.

Cerebellum. 2015 Dec;14(6):650-62. doi: 10.1007/s12311-015-0659-7.

PMID:
25763861
45.

Activation of peroxisome proliferator-activated receptor α induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders.

Ghosh A, Jana M, Modi K, Gonzalez FJ, Sims KB, Berry-Kravis E, Pahan K.

J Biol Chem. 2015 Apr 17;290(16):10309-24. doi: 10.1074/jbc.M114.610659. Epub 2015 Mar 6.

46.

Emerging topics in FXTAS.

Hall DA, Birch RC, Anheim M, Jønch AE, Pintado E, O'Keefe J, Trollor JN, Stebbins GT, Hagerman RJ, Fahn S, Berry-Kravis E, Leehey MA.

J Neurodev Disord. 2014;6(1):31. doi: 10.1186/1866-1955-6-31. Epub 2014 Jul 30. Review. Erratum in: J Neurodev Disord. 2015;7(1):13.

47.

Distribution of AGG interruption patterns within nine world populations.

Yrigollen CM, Sweha S, Durbin-Johnson B, Zhou L, Berry-Kravis E, Fernandez-Carvajal I, Faradz SM, Amiri K, Shaheen H, Polli R, Murillo-Bonilla L, Silva Arevalo Gde J, Cogram P, Murgia A, Tassone F.

Intractable Rare Dis Res. 2014 Nov;3(4):153-61. doi: 10.5582/irdr.2014.01028.

48.

Cholesterol levels in fragile X syndrome.

Berry-Kravis E, Levin R, Shah H, Mathur S, Darnell JC, Ouyang B.

Am J Med Genet A. 2015 Feb;167A(2):379-84. doi: 10.1002/ajmg.a.36850. Epub 2014 Nov 25.

49.

New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.

Fraint A, Vittal P, Szewka A, Bernard B, Berry-Kravis E, Hall DA.

Front Genet. 2014 Oct 17;5:365. doi: 10.3389/fgene.2014.00365. eCollection 2014.

50.

Fragile X syndrome: a review of associated medical problems.

Kidd SA, Lachiewicz A, Barbouth D, Blitz RK, Delahunty C, McBrien D, Visootsak J, Berry-Kravis E.

Pediatrics. 2014 Nov;134(5):995-1005. doi: 10.1542/peds.2013-4301. Epub 2014 Oct 6. Review.

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