檢索結果 - Narayanan, Vinodh

Epigenetics, Autism Spectrum, and Neurodevelopmental Disorders 由 Rangasamy, Sampathkumar, D’Mello, Santosh R., Narayanan, Vinodh

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Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex 由 Donarum, Elizabeth A, Halperin, Rebecca F, Stephan, Dietrich A, Narayanan, Vinodh

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Evidence for population variation in TSC1 and TSC2 gene expression 由 Jentarra, Garilyn M, Rice, Stephen G, Olfers, Shannon, Saffen, David, Narayanan, Vinodh

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Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model 由 Rangasamy, Sampathkumar, Olfers, Shannon, Gerald, Brittany, Hilbert, Alex, Svejda, Sean, Narayanan, Vinodh

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A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching 由 Kelly, Carolyn M., Zeiger, Peter J., Narayanan, Vinodh, Ramsey, Keri, Sondermann, Holger

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A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits 由 Guzmán, Yomayra F., Ramsey, Keri, Stolz, Jacob R., Craig, David W., Huentelman, Mathew J., Narayanan, Vinodh, Swanson, Geoffrey T.

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Dystonia in ATP2B3-associated X-linked Spinocerebellar Ataxia 由 Feyma, Timothy, Ramsey, Keri, Huentelman, Matthew J., Craig, David W., Padilla-Lopez, Sergio, Narayanan, Vinodh, Kruer, Michael C.

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Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex 由 Wie, Jinhong, Bharthur, Apoorva, Wolfgang, Morgan, Narayanan, Vinodh, Ramsey, Keri, Aranda, Kimberly, Zhang, Qi, Zhou, Yandong, Ren, Dejian

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Isoform-Specific Toxicity of Mecp2 in Postmitotic Neurons: Suppression of Neurotoxicity by FoxG1 由 Dastidar, Somasish Ghosh, Bardai, Farah H., Ma, Chi, Price, Valerie, Rawat, Varun, Verma, Pragya, Narayanan, Vinodh, D'Mello, Santosh R.

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Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation 由 Jentarra, Garilyn M, Olfers, Shannon L, Rice, Stephen G, Srivastava, Nishit, Homanics, Gregg E, Blue, Mary, Naidu, SakkuBai, Narayanan, Vinodh

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Identification of Somatic Chromosomal Abnormalities in Hypothalamic Hamartoma Tissue at the GLI3 Locus 由 Craig, David W., Itty, Abraham, Panganiban, Corrie, Szelinger, Szabolcs, Kruer, Michael C., Sekar, Aswin, Reiman, David, Narayanan, Vinodh, Stephan, Dietrich A., Kerrigan, John F.

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Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations 由 Ramsey, Keri, Belnap, Newell, Bonfitto, Anna, Jepsen, Wayne, Naymik, Marcus, Sanchez‐Castillo, Meredith, Craig, David W., Szelinger, Szabolcs, Huentelman, Matthew J., Narayanan, Vinodh, Rangasamy, Sampath

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Electrophysiological Phenotypes of MeCP2 A140V Mutant Mouse Model 由 Ma, Lu‐Yao, Wu, Chen, Jin, Yu, Gao, Ming, Li, Guo‐Hui, Turner, Dharshaun, Shen, Jian‐Xin, Zhang, Shi‐Jiang, Narayanan, Vinodh, Jentarra, Garilyn, Wu, Jie

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Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing 由 Szelinger, Szabolcs, Malenica, Ivana, Corneveaux, Jason J., Siniard, Ashley L., Kurdoglu, Ahmet A., Ramsey, Keri M., Schrauwen, Isabelle, Trent, Jeffrey M., Narayanan, Vinodh, Huentelman, Matthew J., Craig, David W.

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Simultaneous recordings of ocular microtremor and microsaccades with a piezoelectric sensor and a video-oculography system 由 McCamy, Michael B., Collins, Niamh, Otero-Millan, Jorge, Al-Kalbani, Mohammed, Macknik, Stephen L., Coakley, Davis, Troncoso, Xoana G., Boyle, Gerard, Narayanan, Vinodh, Wolf, Thomas R., Martinez-Conde, Susana

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A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome 由 Schrauwen, Isabelle, Szelinger, Szabolcs, Siniard, Ashley L., Kurdoglu, Ahmet, Corneveaux, Jason J., Malenica, Ivana, Richholt, Ryan, Van Camp, Guy, De Both, Matt, Swaminathan, Shanker, Turk, Mari, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matthew J.

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Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2 由 Jepsen, Wayne M., Ramsey, Keri, Szelinger, Szabolcs, Llaci, Lorida, Balak, Chris, Belnap, Newell, Bilagody, Cherae, De Both, Matthew, Gupta, Raj, Naymik, Marcus, Pandey, Richa, Piras, Ignazio S., Sanchez‐Castillo, Meredith, Rangasamy, Sampathkumar, Narayanan, Vinodh, Huentelman, Matthew J.

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De Novo Variant in KIF26B isAssociated with Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy 由 Wojcik, Monica H., Okada, Kyoko, Prabhu, Sanjay P., Nowakowski, Dan W., Ramsey, Keri, Balak, Chris, Rangasamy, Sampath, Brownstein, Catherine A., Schmitz-Abe, Klaus, Cohen, Julie S, Fatemi, Ali, Shi, Jiahai, Grant, Ellen P., Narayanan, Vinodh, Ho, Hsin-Yi Henry, Agrawal, Pankaj B.

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A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia 由 Moskowitz, Abby M., Belnap, Newell, Siniard, Ashley L., Szelinger, Szabolcs, Claasen, Ana M., Richholt, Ryan F., De Both, Matt, Corneveaux, Jason J., Balak, Chris, Piras, Ignazio S., Russell, Megan, Courtright, Amanda L., Rangasamy, Sampath, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matt J., Schrauwen, Isabelle

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Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit... 由 Banuelos, Erika, Ramsey, Keri, Belnap, Newell, Krishnan, Malavika, Balak, Chris, Szelinger, Szabolcs, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, De Both, Matt, Piras, Ignazio, Naymik, Marcus, Claasen, Ana M., Rangasamy, Sampathkumar, Huentelman, Matthew J., Craig, David W., Campeau, Philippe M., Narayanan, Vinodh, Schrauwen, Isabelle

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