Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 48

1.

Severity Assessment in CDKL5 Deficiency Disorder.

Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA.

Pediatr Neurol. 2019 Mar 27. pii: S0887-8994(18)31324-9. doi: 10.1016/j.pediatrneurol.2019.03.017. [Epub ahead of print]

PMID:
31147226
2.

A phase 2 clinical trial of a vasopressin V1a receptor antagonist shows improved adaptive behaviors in men with autism spectrum disorder.

Bolognani F, Del Valle Rubido M, Squassante L, Wandel C, Derks M, Murtagh L, Sevigny J, Khwaja O, Umbricht D, Fontoura P.

Sci Transl Med. 2019 May 8;11(491). pii: eaat7838. doi: 10.1126/scitranslmed.aat7838. Epub 2019 May 1.

PMID:
31043521
3.

Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes.

Frohlich J, Miller MT, Bird LM, Garces P, Purtell H, Hoener MC, Philpot BD, Sidorov MS, Tan WH, Hernandez MC, Rotenberg A, Jeste SS, Krishnan M, Khwaja O, Hipp JF.

Biol Psychiatry. 2019 May 1;85(9):752-759. doi: 10.1016/j.biopsych.2019.01.008. Epub 2019 Jan 19.

4.

Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study.

Spiridigliozzi GA, Goeldner C, Edgin J, Hart SJ, Noeldeke J, Squassante L, Visootsak J, Heller JH, Khwaja O, Kishnani PS, Liogier d'Ardhuy X.

Am J Med Genet A. 2019 Jan;179(1):85-93. doi: 10.1002/ajmg.a.60685. Epub 2018 Dec 20.

PMID:
30569586
5.

The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy.

Kletzl H, Marquet A, Günther A, Tang W, Heuberger J, Groeneveld GJ, Birkhoff W, Mercuri E, Lochmüller H, Wood C, Fischer D, Gerlach I, Heinig K, Bugawan T, Dziadek S, Kinch R, Czech C, Khwaja O.

Neuromuscul Disord. 2019 Jan;29(1):21-29. doi: 10.1016/j.nmd.2018.10.001. Epub 2018 Oct 30.

PMID:
30553700
6.

In Search of Biomarkers for Autism Spectrum Disorder.

Del Valle Rubido M, McCracken JT, Hollander E, Shic F, Noeldeke J, Boak L, Khwaja O, Sadikhov S, Fontoura P, Umbricht D.

Autism Res. 2018 Nov;11(11):1567-1579. doi: 10.1002/aur.2026. Epub 2018 Oct 15.

7.

A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier.

Sturm S, Günther A, Jaber B, Jordan P, Al Kotbi N, Parkar N, Cleary Y, Frances N, Bergauer T, Heinig K, Kletzl H, Marquet A, Ratni H, Poirier A, Müller L, Czech C, Khwaja O.

Br J Clin Pharmacol. 2019 Jan;85(1):181-193. doi: 10.1111/bcp.13786. Epub 2018 Nov 16.

PMID:
30302786
8.

Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 ( SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA).

Ratni H, Ebeling M, Baird J, Bendels S, Bylund J, Chen KS, Denk N, Feng Z, Green L, Guerard M, Jablonski P, Jacobsen B, Khwaja O, Kletzl H, Ko CP, Kustermann S, Marquet A, Metzger F, Mueller B, Naryshkin NA, Paushkin SV, Pinard E, Poirier A, Reutlinger M, Weetall M, Zeller A, Zhao X, Mueller L.

J Med Chem. 2018 Aug 9;61(15):6501-6517. doi: 10.1021/acs.jmedchem.8b00741. Epub 2018 Jul 25.

PMID:
30044619
9.

Progress in Understanding and Treating SCN2A-Mediated Disorders.

Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, Bernier RA, Catterall WA, Chung WK, Empfield JR, George AL Jr, Hipp JF, Khwaja O, Kiskinis E, Lal D, Malhotra D, Millichap JJ, Otis TS, Petrou S, Pitt G, Schust LF, Taylor CM, Tjernagel J, Spiro JE, Bender KJ.

Trends Neurosci. 2018 Jul;41(7):442-456. doi: 10.1016/j.tins.2018.03.011. Epub 2018 Apr 23. Review.

PMID:
29691040
10.

An Objective and Child-friendly Assessment of Arm Function by Using a 3-D Sensor.

Chen X, Wolf D, Siebourg-Polster J, Czech C, Bonati U, Fischer D, Khwaja O, Strahm M.

J Vis Exp. 2018 Feb 12;(132). doi: 10.3791/57014.

11.

Motor, cognitive, and functional declines contribute to a single progressive factor in early HD.

Schobel SA, Palermo G, Auinger P, Long JD, Ma S, Khwaja OS, Trundell D, Cudkowicz M, Hersch S, Sampaio C, Dorsey ER, Leavitt BR, Kieburtz KD, Sevigny JJ, Langbehn DR, Tabrizi SJ; TRACK-HD, COHORT, CARE-HD, and 2CARE Huntington Study Group Investigators.

Neurology. 2017 Dec 12;89(24):2495-2502. doi: 10.1212/WNL.0000000000004743. Epub 2017 Nov 15.

12.

Health-Related Quality of Life in Individuals with Down Syndrome: Results from a Non-Interventional Longitudinal Multi-National Study.

Rofail D, Froggatt D, de la Torre R, Edgin J, Kishnani P, Touraine R, Whitwham S, Squassante L, Khwaja O, D'Ardhuy XL.

Adv Ther. 2017 Aug;34(8):2058-2069. doi: 10.1007/s12325-017-0591-y. Epub 2017 Aug 9.

PMID:
28795347
13.

A Single Dose, Randomized, Controlled Proof-Of-Mechanism Study of a Novel Vasopressin 1a Receptor Antagonist (RG7713) in High-Functioning Adults with Autism Spectrum Disorder.

Umbricht D, Del Valle Rubido M, Hollander E, McCracken JT, Shic F, Scahill L, Noeldeke J, Boak L, Khwaja O, Squassante L, Grundschober C, Kletzl H, Fontoura P.

Neuropsychopharmacology. 2017 Aug;42(9):1924. doi: 10.1038/npp.2017.92.

14.

Longitudinal characterization of biomarkers for spinal muscular atrophy.

Bonati U, Holiga Š, Hellbach N, Risterucci C, Bergauer T, Tang W, Hafner P, Thoeni A, Bieri O, Gerlach I, Marquet A, Khwaja O, Sambataro F, Bertolino A, Dukart J, Fischmann A, Fischer D, Czech C.

Ann Clin Transl Neurol. 2017 Apr 11;4(5):292-304. doi: 10.1002/acn3.406. eCollection 2017 May.

15.

Feasibility of Using Microsoft Kinect to Assess Upper Limb Movement in Type III Spinal Muscular Atrophy Patients.

Chen X, Siebourg-Polster J, Wolf D, Czech C, Bonati U, Fischer D, Khwaja O, Strahm M.

PLoS One. 2017 Jan 25;12(1):e0170472. doi: 10.1371/journal.pone.0170472. eCollection 2017.

16.

A Single Dose, Randomized, Controlled Proof-Of-Mechanism Study of a Novel Vasopressin 1a Receptor Antagonist (RG7713) in High-Functioning Adults with Autism Spectrum Disorder.

Umbricht D, Del Valle Rubido M, Hollander E, McCracken JT, Shic F, Scahill L, Noeldeke J, Boak L, Khwaja O, Squassante L, Grundschober C, Kletzl H, Fontoura P.

Neuropsychopharmacology. 2017 Aug;42(9):1914-1923. doi: 10.1038/npp.2016.232. Epub 2016 Oct 6. Erratum in: Neuropsychopharmacology. 2017 Aug;42(9):1924.

17.

Population prevalence of Down's syndrome in the United Kingdom.

Alexander M, Ding Y, Foskett N, Petri H, Wandel C, Khwaja O.

J Intellect Disabil Res. 2016 Sep;60(9):874-8. doi: 10.1111/jir.12277. Epub 2016 Mar 28.

PMID:
27018385
18.

Identification and validation of biomarkers for autism spectrum disorders.

Loth E, Spooren W, Ham LM, Isaac MB, Auriche-Benichou C, Banaschewski T, Baron-Cohen S, Broich K, Bölte S, Bourgeron T, Charman T, Collier D, de Andres-Trelles F, Durston S, Ecker C, Elferink A, Haberkamp M, Hemmings R, Johnson MH, Jones EJ, Khwaja OS, Lenton S, Mason L, Mantua V, Meyer-Lindenberg A, Lombardo MV, O'Dwyer L, Okamoto K, Pandina GJ, Pani L, Persico AM, Simonoff E, Tauscher-Wisniewski S, Llinares-Garcia J, Vamvakas S, Williams S, Buitelaar JK, Murphy DG.

Nat Rev Drug Discov. 2016 Jan;15(1):70-3. doi: 10.1038/nrd.2015.7. No abstract available.

PMID:
26718285
19.

Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study.

Liogier d'Ardhuy X, Edgin JO, Bouis C, de Sola S, Goeldner C, Kishnani P, Nöldeke J, Rice S, Sacco S, Squassante L, Spiridigliozzi G, Visootsak J, Heller J, Khwaja O.

Front Behav Neurosci. 2015 Nov 18;9:300. doi: 10.3389/fnbeh.2015.00300. eCollection 2015.

20.

Detecting autonomic response to pain in Rett syndrome.

O'Leary HM, Marschik PB, Khwaja OS, Ho E, Barnes KV, Clarkson TW, Bruck NM, Kaufmann WE.

Dev Neurorehabil. 2017 Feb;20(2):108-114. doi: 10.3109/17518423.2015.1087437. Epub 2015 Oct 12.

PMID:
26457613
21.

Identification of intellectual disability genes showing circadian clock-dependent expression in the mouse hippocampus.

Renaud J, Dumont F, Khelfaoui M, Foisset SR, Letourneur F, Bienvenu T, Khwaja O, Dorseuil O, Billuart P.

Neuroscience. 2015 Nov 12;308:11-50. doi: 10.1016/j.neuroscience.2015.08.066. Epub 2015 Sep 2.

PMID:
26341910
22.

Morbidity and medication in a large population of individuals with Down syndrome compared to the general population.

Alexander M, Petri H, Ding Y, Wandel C, Khwaja O, Foskett N.

Dev Med Child Neurol. 2016 Mar;58(3):246-54. doi: 10.1111/dmcn.12868. Epub 2015 Aug 18.

23.

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

Olson HE, Tambunan D, LaCoursiere C, Goldenberg M, Pinsky R, Martin E, Ho E, Khwaja O, Kaufmann WE, Poduri A.

Am J Med Genet A. 2015 Sep;167A(9):2017-25. doi: 10.1002/ajmg.a.37132. Epub 2015 Apr 25.

24.

Copy number variation plays an important role in clinical epilepsy.

Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A.

Ann Neurol. 2014 Jun;75(6):943-58. doi: 10.1002/ana.24178. Epub 2014 Jun 13.

25.

Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome.

Khwaja OS, Ho E, Barnes KV, O'Leary HM, Pereira LM, Finkelstein Y, Nelson CA 3rd, Vogel-Farley V, DeGregorio G, Holm IA, Khatwa U, Kapur K, Alexander ME, Finnegan DM, Cantwell NG, Walco AC, Rappaport L, Gregas M, Fichorova RN, Shannon MW, Sur M, Kaufmann WE.

Proc Natl Acad Sci U S A. 2014 Mar 25;111(12):4596-601. doi: 10.1073/pnas.1311141111. Epub 2014 Mar 12.

26.

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.

Touma M, Joshi M, Connolly MC, Grant PE, Hansen AR, Khwaja O, Berry GT, Kinney HC, Poduri A, Agrawal PB.

Epilepsia. 2013 May;54(5):e81-5. doi: 10.1111/epi.12137. Epub 2013 Mar 28.

27.

Monozygotic twins with trisomy 21 and partial agenesis of the corpus callosum.

Jacob FD, Dobson LJ, Estroff JA, Khwaja OS.

Pediatr Neurol. 2013 Apr;48(4):314-6. doi: 10.1016/j.pediatrneurol.2012.12.014.

PMID:
23498567
28.

Case of infantile onset spinocerebellar ataxia type 5.

Jacob FD, Ho ES, Martinez-Ojeda M, Darras BT, Khwaja OS.

J Child Neurol. 2013 Oct;28(10):1292-5. doi: 10.1177/0883073812454331. Epub 2012 Aug 21.

PMID:
22914369
29.

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.

Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV.

Epilepsia. 2012 Aug;53(8):e146-50. doi: 10.1111/j.1528-1167.2012.03538.x. Epub 2012 Jun 12.

30.

Altered fetal cerebral and cerebellar development in twin-twin transfusion syndrome.

Tarui T, Khwaja OS, Estroff JA, Robinson JN, Gregas MC, Grant PE.

AJNR Am J Neuroradiol. 2012 Jun;33(6):1121-6. doi: 10.3174/ajnr.A2922. Epub 2012 Feb 2.

31.

Callosal dysgenesis in fetuses with ventriculomegaly: levels of agreement between imaging modalities and postnatal outcome.

Li Y, Estroff JA, Khwaja O, Mehta TS, Poussaint TY, Robson CD, Feldman HA, Ware J, Levine D.

Ultrasound Obstet Gynecol. 2012 Nov;40(5):522-9. doi: 10.1002/uog.11098.

32.

ISSR and RAPD based evaluation of genetic stability of encapsulated micro shoots of Glycyrrhiza glabra following 6 months of storage.

Mehrotra S, Khwaja O, Kukreja AK, Rahman L.

Mol Biotechnol. 2012 Nov;52(3):262-8. doi: 10.1007/s12033-011-9491-6.

PMID:
22215432
33.

Clinical severity and quality of life in children and adolescents with Rett syndrome.

Lane JB, Lee HS, Smith LW, Cheng P, Percy AK, Glaze DG, Neul JL, Motil KJ, Barrish JO, Skinner SA, Annese F, McNair L, Graham J, Khwaja O, Barnes K, Krischer JP.

Neurology. 2011 Nov 15;77(20):1812-8. doi: 10.1212/WNL.0b013e3182377dd2. Epub 2011 Oct 19.

34.

Translational research: Rett syndrome and tuberous sclerosis complex.

Khwaja OS, Sahin M.

Curr Opin Pediatr. 2011 Dec;23(6):633-9. doi: 10.1097/MOP.0b013e32834c9251. Review.

35.

A 9-month-old boy with seizures and discrepant urine tryptophan concentrations.

Ptolemy AS, Li Y, Sanderson T, Khwaja O, Berry GT, Kellogg M.

Clin Chem. 2011 Apr;57(4):545-8. doi: 10.1373/clinchem.2010.144899. No abstract available.

36.

Spectrum of neurodevelopmental disabilities in children with cerebellar malformations.

Bolduc ME, Du Plessis AJ, Sullivan N, Khwaja OS, Zhang X, Barnes K, Robertson RL, Limperopoulos C.

Dev Med Child Neurol. 2011 May;53(5):409-16. doi: 10.1111/j.1469-8749.2011.03929.x. Epub 2011 Mar 21.

37.

Rett syndrome diagnostic criteria: lessons from the Natural History Study.

Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee HS, Lane JB, Barrish JO, Annese F, McNair L, Graham J, Barnes K.

Ann Neurol. 2010 Dec;68(6):951-5. doi: 10.1002/ana.22154.

38.

Fetal MR imaging evidence of prolonged apparent diffusion coefficient decrease in fetal death.

Tarui T, Khwaja OS, Estroff JA, Robinson JN, Grant PE.

AJNR Am J Neuroradiol. 2011 Aug;32(7):E126-8. doi: 10.3174/ajnr.A2202. Epub 2010 Jul 29.

39.

Neurodevelopmental outcome of fetuses referred for ventriculomegaly.

Beeghly M, Ware J, Soul J, du Plessis A, Khwaja O, Senapati GM, Robson CD, Robertson RL, Poussaint TY, Barnewolt CE, Feldman HA, Estroff JA, Levine D.

Ultrasound Obstet Gynecol. 2010 Apr;35(4):405-16. doi: 10.1002/uog.7554.

40.

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL.

J Med Genet. 2009 Apr;46(4):242-8. doi: 10.1136/jmg.2008.059907. Epub 2008 Sep 19.

41.

How accurately does current fetal imaging identify posterior fossa anomalies?

Limperopoulos C, Robertson RL Jr, Khwaja OS, Robson CD, Estroff JA, Barnewolt C, Levine D, Morash D, Nemes L, Zaccagnini L, du Plessis AJ.

AJR Am J Roentgenol. 2008 Jun;190(6):1637-43. doi: 10.2214/AJR.07.3036.

42.

Pathogenesis of cerebral white matter injury of prematurity.

Khwaja O, Volpe JJ.

Arch Dis Child Fetal Neonatal Ed. 2008 Mar;93(2):F153-61. doi: 10.1136/adc.2006.108837. Review.

43.

Basilar meningitis associated with ethmoid and sphenoid cephaloceles.

Khwaja OS, Robson CD, McManus ML, Urion DK.

Pediatr Neurol. 2005 Jul;33(1):57-60. Epub 2005 Apr 13.

PMID:
15993322
44.

Glutaric aciduria type 1 and nonaccidental head injury.

Hartley LM, Khwaja OS, Verity CM.

Pediatrics. 2001 Jan;107(1):174-5. No abstract available.

PMID:
11134453
45.

The role of a clinical score in the assessment of ambiguous genitalia.

Ahmed SF, Khwaja O, Hughes IA.

BJU Int. 2000 Jan;85(1):120-4.

46.

The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2.

Jones MH, Furlong RA, Burkin H, Chalmers IJ, Brown GM, Khwaja O, Affara NA.

Hum Mol Genet. 1996 Nov;5(11):1695-701. Erratum in: Hum Mol Genet 1997 Feb;6(2):334-5.

PMID:
8922996
47.

A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromatin.

Jones MH, Khwaja OS, Briggs H, Lambson B, Davey PM, Chalmers J, Zhou CY, Walker EM, Zhang Y, Todd C, et al.

Genomics. 1994 Nov 15;24(2):266-75.

PMID:
7698748
48.

Report and abstracts of the First International Workshop on Y Chromosome Mapping 1994. Cambridge, England, April 2-5, 1994.

Affara NA, Lau YF, Briggs H, Davey P, Jones MH, Khwaja O, Mitchell M, Sargent C.

Cytogenet Cell Genet. 1994;67(4):359-402. No abstract available.

PMID:
7924456

Supplemental Content

Loading ...
Support Center