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<h4> Specific Aims and Tasks </h4>
 
<h4> Specific Aims and Tasks </h4>
 
<h5>
 
<h5>
The Structural analysis of a large population of pediatric and adult epilepsy patients at high SUDEP risk and brain specimens obtained at autopsy from individuals who died from SUDEP
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The Morphometric Analysis Core unifies comprehensive clinical,
<ul>
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physiological, and structural analysis of a large population of pediatric and adult epilepsy patients at
<li>An analysis center for morphometric data
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high SUDEP risk. It is designed for reciprocal support of patient centered research in SUDEP genetic, physiologic, cellular, and model biological mechanisms.
</ul>
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     <h4> Principal Investigators </h4>
 
     <h4> Principal Investigators </h4>
 
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      <h4> Citations </h4>
 
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      <h4> Protocols and Manuals </h4>
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       <h4> Publication Links </h4> <h5> </html>
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       <h4> Publication Links </h4>
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      <p>
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      </p>
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      <br><br>
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 +
<li>Goldman AM, Potocki L, Walz K, Lynch JK, Glaze DG, Lupski JR, and Noebels JL.(2006) Epilepsy and
 +
Chromosomal Rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)] [http://www.ncbi.nlm.nih.gov/pubmed/16566870 PMID 16566870].
 +
<li> Weimin B, Yan J, Shi X, Yuva-Paylor L, Antalffy BA, Goldman AM, Yoo JW, Noebels JL, Armstrong DL,
 +
Paylor RE, and Lupski JR. Rai1 deficiency in mice causes learning impairments and motor dysfunctions
 +
whereas Rai1 heterozygous mice display minimal behavioral phenotypes. [http://www.ncbi.nlm.nih.gov/pubmed/17517686 PMID 17517686].
 +
<li>McGuire AL, Hamilton JA, Lunstroth R, McCullough LB, Goldman A. DNA Data Sharing: Research
 +
Participants' Perspectives. [http://www.ncbi.nlm.nih.gov/pubmed/18197056 PMID 18197056].
 +
<li>Goldman AM, Glasscock E, Yoo J, Chen TT, Klassen TL, Noebels JL. Arrhythmia in Heart and Brain:
 +
KCNQ1 Mutations Link Epilepsy and Sudden Unexplained Death. [http://www.ncbi.nlm.nih.gov/pubmed/20368164 PMID 20368164].
 +
<li>McGuire AL, Oliver JM, Slashinski MJ, Graves JL, Wang T, Kelly PA, Fisher W, Lau CC, Goss J, Okcu M,
 +
Treadwell-Deering D, Goldman AM, Noebels JL, Hilsenbeck SG. To share or not to share: a randomized trial
 +
of consent for data sharing in genome research. [http://www.ncbi.nlm.nih.gov/pubmed/21785360 PMID 21785360].
 +
<li>Klassen TL, Davis C, Goldman AM, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L,
 +
Villasana D, Morgan M, Muzny D, Gibbs R, Noebels JL. Exome Sequencing of Ion Channel Genes Reveals
 +
Complex Profiles Confounding Personal Risk Assessment in Epilepsy. [http://www.ncbi.nlm.nih.gov/pubmed/21703448 PMID 21703448].
 +
<li>Klassen TL, von Rüeden EL, Drabek J, Noebels JL, Goldman AM. Comparison of alternative tissue
 +
DNA sources and an algorithm for optimal downstream sample utility in genetic and molecular autopsy
 +
studies. [http://www.ncbi.nlm.nih.gov/pubmed/22796560 PMID 22796560].
 +
<li>Chen T, Klassen TL, Goldman AM, Marini C, Guerrini R, Noebels JL. Enriched variation, de novo
 +
truncation, and widespread brain expression support a role for CLCN1 in epilepsy. [http://www.ncbi.nlm.nih.gov/pubmed/23408874 PMID 23408874] .
 +
<li>Shinichi Hirose, Carla Marini, Peter de Jonghe,Ingrid E. Scheffer, Eva Andermann, Michel Baulac, Alica
 +
Goldman, Marcelo Kauffman, Dan Lowenstein, Ruth Ottman, Thomas Sander, Sanjay Sisodiya, Nigel Tan,
 +
Samuel Berkovic. SCN1A testing for epilepsy: Application in clinical practice. [http://www.ncbi.nlm.nih.gov/pubmed/23586701 PMID 23586701].
 +
<li>Klassen1, Tara .L.; Drabek1, Janice.; Tomson5, Torbjörn; Sveinsson5, Olafur; von Döbeln4, Ulrika;
 +
Noebels1,2,3, Jeffrey L.; Goldman1, Alica M. Visual automated fluorescence electrophoresis provides
 +
simultaneous quality, quantity, and molecular weight spectra for genomic DNA from archived neonatal
 +
blood spots. [http://www.ncbi.nlm.nih.gov/pubmed/23518217 PMID 23518217].
 +
<li>Klassen TL, Bomben VC, Patel A, Drabek J, Chen TT, Gu W, Zhang F, Chapman K, Lupski JR, Noebels,
 +
JL, Goldman AM. High Resolution Molecular Genomic Autopsy Reveals Complex SUDEP Risk Profile.
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[http://www.ncbi.nlm.nih.gov/pubmed/24372310 PMID 24372310].
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</ul>
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Revision as of 13:44, 26 January 2015


Morphometric Analysis Core (NS090406)


Specific Aims and Tasks

The Morphometric Analysis Core unifies comprehensive clinical, physiological, and structural analysis of a large population of pediatric and adult epilepsy patients at high SUDEP risk. It is designed for reciprocal support of patient centered research in SUDEP genetic, physiologic, cellular, and model biological mechanisms.

Principal Investigators



Publication Links

  • Goldman AM, Potocki L, Walz K, Lynch JK, Glaze DG, Lupski JR, and Noebels JL.(2006) Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)] PMID 16566870.
  • Weimin B, Yan J, Shi X, Yuva-Paylor L, Antalffy BA, Goldman AM, Yoo JW, Noebels JL, Armstrong DL, Paylor RE, and Lupski JR. Rai1 deficiency in mice causes learning impairments and motor dysfunctions whereas Rai1 heterozygous mice display minimal behavioral phenotypes. PMID 17517686.
  • McGuire AL, Hamilton JA, Lunstroth R, McCullough LB, Goldman A. DNA Data Sharing: Research Participants' Perspectives. PMID 18197056.
  • Goldman AM, Glasscock E, Yoo J, Chen TT, Klassen TL, Noebels JL. Arrhythmia in Heart and Brain: KCNQ1 Mutations Link Epilepsy and Sudden Unexplained Death. PMID 20368164.
  • McGuire AL, Oliver JM, Slashinski MJ, Graves JL, Wang T, Kelly PA, Fisher W, Lau CC, Goss J, Okcu M, Treadwell-Deering D, Goldman AM, Noebels JL, Hilsenbeck SG. To share or not to share: a randomized trial of consent for data sharing in genome research. PMID 21785360.
  • Klassen TL, Davis C, Goldman AM, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D, Morgan M, Muzny D, Gibbs R, Noebels JL. Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy. PMID 21703448.
  • Klassen TL, von Rüeden EL, Drabek J, Noebels JL, Goldman AM. Comparison of alternative tissue DNA sources and an algorithm for optimal downstream sample utility in genetic and molecular autopsy studies. PMID 22796560.
  • Chen T, Klassen TL, Goldman AM, Marini C, Guerrini R, Noebels JL. Enriched variation, de novo truncation, and widespread brain expression support a role for CLCN1 in epilepsy. PMID 23408874 .
  • Shinichi Hirose, Carla Marini, Peter de Jonghe,Ingrid E. Scheffer, Eva Andermann, Michel Baulac, Alica Goldman, Marcelo Kauffman, Dan Lowenstein, Ruth Ottman, Thomas Sander, Sanjay Sisodiya, Nigel Tan, Samuel Berkovic. SCN1A testing for epilepsy: Application in clinical practice. PMID 23586701.
  • Klassen1, Tara .L.; Drabek1, Janice.; Tomson5, Torbjörn; Sveinsson5, Olafur; von Döbeln4, Ulrika; Noebels1,2,3, Jeffrey L.; Goldman1, Alica M. Visual automated fluorescence electrophoresis provides simultaneous quality, quantity, and molecular weight spectra for genomic DNA from archived neonatal blood spots. PMID 23518217.
  • Klassen TL, Bomben VC, Patel A, Drabek J, Chen TT, Gu W, Zhang F, Chapman K, Lupski JR, Noebels, JL, Goldman AM. High Resolution Molecular Genomic Autopsy Reveals Complex SUDEP Risk Profile. PMID 24372310.