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Items: 1 to 20 of 125

1.

A randomized controlled trial of levodopa in patients with Angelman syndrome.

Tan WH, Bird LM, Sadhwani A, Barbieri-Welge RL, Skinner SA, Horowitz LT, Bacino CA, Noll LM, Fu C, Hundley RJ, Wink LK, Erickson CA, Barnes GN, Slavotinek A, Jeremy R, Rotenberg A, Kothare SV, Olson HE, Poduri A, Nespeca MP, Chu HC, Willen JM, Haas KF, Weeber EJ, Rufo PA.

Am J Med Genet A. 2017 Sep 25. doi: 10.1002/ajmg.a.38457. [Epub ahead of print]

PMID:
28944563
2.

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL.

Am J Hum Genet. 2017 Oct 5;101(4):516-524. doi: 10.1016/j.ajhg.2017.08.013. Epub 2017 Sep 21.

PMID:
28942967
3.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.

PMID:
28805828
4.

DACH1 stimulates shear stress-guided endothelial cell migration and coronary artery growth through the CXCL12-CXCR4 signaling axis.

Chang AH, Raftrey BC, D'Amato G, Surya VN, Poduri A, Chen HI, Goldstone AB, Woo J, Fuller GG, Dunn AR, Red-Horse K.

Genes Dev. 2017 Aug 4. doi: 10.1101/gad.301549.117. [Epub ahead of print]

PMID:
28779009
5.

Endothelial cells respond to the direction of mechanical stimuli through SMAD signaling to regulate coronary artery size.

Poduri A, Chang AH, Raftrey B, Rhee S, Van M, Red-Horse K.

Development. 2017 Sep 15;144(18):3241-3252. doi: 10.1242/dev.150904. Epub 2017 Jul 31.

PMID:
28760815
6.

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.

Epi4K Consortium; EuroEPINOMICS-RES Consortium; Epilepsy Phenome Genome Project.

Eur J Hum Genet. 2017 Jun;25(7):894-899. doi: 10.1038/ejhg.2017.61. Epub 2017 May 17.

PMID:
28513609
7.

When Should Genetic Testing Be Performed in Epilepsy Patients?

Poduri A.

Epilepsy Curr. 2017 Jan-Feb;17(1):16-22. doi: 10.5698/1535-7511-17.1.16.

8.

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A.

Ann Neurol. 2017 Mar;81(3):419-429. doi: 10.1002/ana.24883. Epub 2017 Feb 14.

PMID:
28133863
9.

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

Epi4K consortium; Epilepsy Phenome/Genome Project.

Lancet Neurol. 2017 Feb;16(2):135-143. doi: 10.1016/S1474-4422(16)30359-3.

PMID:
28102150
10.

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

Epilepsy Phenome/Genome Project; Epi4K Consortium; EuroEPINOMICS-RES Consortium.

Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.012. No abstract available.

11.

A Model Program for Translational Medicine in Epilepsy Genetics.

Smith LA, Ullmann JF, Olson HE, Achkar CM, Truglio G, Kelly M, Rosen-Sheidley B, Poduri A.

J Child Neurol. 2017 Mar;32(4):429-436. doi: 10.1177/0883073816685654. Epub 2017 Jan 6.

PMID:
28056630
12.

Tracking the Fate of Cells in Health and Disease.

Poduri A, Pomeroy SL.

N Engl J Med. 2016 Dec 22;375(25):2494-2496. doi: 10.1056/NEJMcibr1612882. No abstract available.

PMID:
28002713
13.

De novo GABRG2 mutations associated with epileptic encephalopathies.

Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL.

Brain. 2017 Jan;140(1):49-67. doi: 10.1093/brain/aww272. Epub 2016 Nov 17.

PMID:
27864268
14.

The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition.

Kahle KT, Khanna AR, Duan J, Staley KJ, Delpire E, Poduri A.

Neuroscientist. 2016 Dec;22(6):555-562. Epub 2016 Apr 29.

PMID:
27130838
15.

De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.

Rodan LH, El Achkar CM, Berry GT, Poduri A, Prabhu SP, Yang E, Anselm I.

J Child Neurol. 2017 Jan;32(1):127-131. doi: 10.1177/0883073816672998. Epub 2016 Oct 23.

PMID:
27770045
16.

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study, Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J.

Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3.

17.

Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum.

Kinney HC, Poduri AH, Cryan JB, Haynes RL, Teot L, Sleeper LA, Holm IA, Berry GT, Prabhu SP, Warfield SK, Brownstein C, Abram HS, Kruer M, Kemp WL, Hargitai B, Gastrang J, Mena OJ, Haas EA, Dastjerdi R, Armstrong DD, Goldstein RD.

J Neuropathol Exp Neurol. 2016 Oct;75(10):981-997. Epub 2016 Sep 9.

PMID:
27612489
18.

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Epi4K Consortium.

Am J Hum Genet. 2016 Aug 4;99(2):287-98. doi: 10.1016/j.ajhg.2016.06.003. Epub 2016 Jul 28.

19.

Correction: Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish.

Meyer M, Dhamne SC, LaCoursiere CM, Tambunan D, Poduri A, Rotenberg A.

PLoS One. 2016 Jul 14;11(7):e0159472. doi: 10.1371/journal.pone.0159472. eCollection 2016.

20.

Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish.

Meyer M, Dhamne SC, LaCoursiere CM, Tambunan D, Poduri A, Rotenberg A.

PLoS One. 2016 Jun 9;11(6):e0156498. doi: 10.1371/journal.pone.0156498. eCollection 2016. Erratum in: PLoS One. 2016;11(7):e0159472.

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