檢索結果 - Naymik, Marcus

Maternal choline supplementation ameliorates Alzheimer’s disease pathology by reducing brain homocysteine levels across multiple generations 由 Velazquez, Ramon, Ferreira, Eric, Winslow, Wendy, Dave, Nikhil, Piras, Ignazio S., Naymik, Marcus, Huentelman, Matthew J, Tran, An, Caccamo, Antonella, Oddo, Salvatore

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Adenosine triphosphate binding cassette subfamily C member 1 (ABCC1) overexpression reduces APP processing and increases alpha- versus beta-secretase activity, in vitro 由 Jepsen, Wayne M., De Both, Matthew, Siniard, Ashley L., Ramsey, Keri, Piras, Ignazio S., Naymik, Marcus, Henderson, Adrienne, Huentelman, Matthew J.

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Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves 由 Kari, Elina, Schrauwen, Isabelle, Llaci, Lorida, Fisher, Laurel M., Go, John L., Naymik, Marcus, Knowles, James A., Huentelman, Matthew J., Friedman, Rick A.

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Leukocyte and cytokine variables in asymptomatic Pugs at genetic risk of necrotizing meningoencephalitis 由 Windsor, Rebecca, Stewart, Samuel D., Talboom, Joshua, Lewis, Candace, Naymik, Marcus, Piras, Ignazio S., Keller, Stefan, Borjesson, Dori L., Clark, Gary, Khanna, Chand, Huentelman, Matthew

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A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss 由 Kari, Elina, Llaci, Lorida, Go, John L., Naymik, Marcus, Knowles, James A., Leal, Suzanne M., Rangasamy, Sampath, Huentelman, Matthew J., Friedman, Rick A., Schrauwen, Isabelle

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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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DNA Methylation and Expression Profiles of Whole Blood in Parkinson’s Disease 由 Henderson, Adrienne R., Wang, Qi, Meechoovet, Bessie, Siniard, Ashley L., Naymik, Marcus, De Both, Matthew, Huentelman, Matthew J., Caselli, Richard J., Driver-Dunckley, Erika, Dunckley, Travis

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De Novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness 由 Schrauwen, Isabelle, Kari, Elina, Mattox, Jacob, Llaci, Lorida, Smeeton, Joanna, Naymik, Marcus, Raible, David W., Knowles, James A., Crump, J. Gage, Huentelman, Matthew J., Friedman, Rick A.

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Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations 由 Kari, Elina, Llaci, Lorida, Go, John L., Naymik, Marcus, Knowles, James A., Leal, Suzanne M., Rangasamy, Sampath, Huentelman, Matthew J., Liang, Winnie, Friedman, Rick A., Schrauwen, Isabelle

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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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Family SES Is Associated with the Gut Microbiome in Infants and Children 由 Lewis, Candace R., Bonham, Kevin S., McCann, Shelley Hoeft, Volpe, Alexandra R., D’Sa, Viren, Naymik, Marcus, De Both, Matt D., Huentelman, Matthew J., Lemery-Chalfant, Kathryn, Highlander, Sarah K., Deoni, Sean C. L., Klepac-Ceraj, Vanja

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Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease 由 Piras, Ignazio S., Bleul, Christiane, Schrauwen, Isabelle, Talboom, Joshua, Llaci, Lorida, De Both, Matthew D., Naymik, Marcus A., Halliday, Glenda, Bettencourt, Conceicao, Holton, Janice L., Serrano, Geidy E., Sue, Lucia I., Beach, Thomas G., Stefanova, Nadia, Huentelman, Matthew J.

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Family history of Alzheimer’s disease alters cognition and is modified by medical and genetic factors 由 Talboom, Joshua S, Håberg, Asta, De Both, Matthew D, Naymik, Marcus A, Schrauwen, Isabelle, Lewis, Candace R, Bertinelli, Stacy F, Hammersland, Callie, Fritz, Mason A, Myers, Amanda J, Hay, Meredith, Barnes, Carol A, Glisky, Elizabeth, Ryan, Lee, Huentelman, Matthew J

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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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Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases 由 De La Vega, Francisco M., Chowdhury, Shimul, Moore, Barry, Frise, Erwin, McCarthy, Jeanette, Hernandez, Edgar Javier, Wong, Terence, James, Kiely, Guidugli, Lucia, Agrawal, Pankaj B., Genetti, Casie A., Brownstein, Catherine A., Beggs, Alan H., Löscher, Britt-Sabina, Franke, Andre, Boone, Braden, Levy, Shawn E., Õunap, Katrin, Pajusalu, Sander, Huentelman, Matt, Ramsey, Keri, Naymik, Marcus, Narayanan, Vinodh, Veeraraghavan, Narayanan, Billings, Paul, Reese, Martin G., Yandell, Mark, Kingsmore, Stephen F.

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation 由 Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michèle, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Véronique, Courel, Maité, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Béchec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-François, Szelinger, Szabolcs, Dollfus, Hélène, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, Piton, Amélie

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Resistance to autosomal dominant Alzheimer’s in an APOE3-Christchurch homozygote: a case report 由 Arboleda-Velasquez, Joseph F., Lopera, Francisco, O’Hare, Michael, Delgado-Tirado, Santiago, Marino, Claudia, Chmielewska, Natalia, Saez-Torres, Kahira L., Amarnani, Dhanesh, Schultz, Aaron P., Sperling, Reisa A., Leyton-Cifuentes, David, Chen, Kewei, Baena, Ana, Aguillon, David, Rios-Romenets, Silvia, Giraldo, Margarita, Guzmán-Vélez, Edmarie, Norton, Daniel J., Pardilla-Delgado, Enmanuelle, Artola, Arabiye, Sanchez, Justin S., Acosta-Uribe, Juliana, Lalli, Matthew, Kosik, Kenneth S., Huentelman, Matthew J., Zetterberg, Henrik, Blennow, Kaj, Reiman, Rebecca A., Luo, Ji, Chen, Yinghua, Thiyyagura, Pradeep, Su, Yi, Jun, Gyungah R., Naymik, Marcus, Gai, Xiaowu, Bootwalla, Moiz, Ji, Jianling, Shen, Lishuang, Miller, John B., Kim, Leo A., Tariot, Pierre N., Johnson, Keith A., Reiman, Eric M., Quiroz, Yakeel T.

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