Search Results - "Natowicz, R."

Metabolomic analysis of obesity, metabolic syndrome, and type 2 diabetes: amino acid and acylcarnitine levels change along a spectrum of metabolic wellness by Libert, Diane M, Nowacki, Amy S, Natowicz, Marvin R

“…Metabolic syndrome (MS) is a construct used to separate "healthy" from "unhealthy" obese patients, and is a major risk factor for type 2 diabetes (T2D) and…”
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Early Identification of Autism Spectrum Disorder: Recommendations for Practice and Research by Zwaigenbaum, Lonnie, Bauman, Margaret L, Stone, Wendy L, Yirmiya, Nurit, Estes, Annette, Hansen, Robin L, McPartland, James C, Natowicz, Marvin R, Choueiri, Roula, Fein, Deborah, Kasari, Connie, Pierce, Karen, Buie, Timothy, Carter, Alice, Davis, Patricia A, Granpeesheh, Doreen, Mailloux, Zoe, Newschaffer, Craig, Robins, Diana, Roley, Susanne Smith, Wagner, Sheldon, Wetherby, Amy

“…Early identification of autism spectrum disorder (ASD) is essential to ensure that children can access specialized evidence-based interventions that can help…”
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Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism by Liu, Yu, Lopez-Santiago, Luis F., Yuan, Yukun, Jones, Julie M., Zhang, Helen, O'Malley, Heather A., Patino, Gustavo A., O'Brien, Janelle E., Rusconi, Raffaella, Gupta, Ajay, Thompson, Robert C., Natowicz, Marvin R., Meisler, Miriam H., Isom, Lori L., Parent, Jack M.

“…Objective Neuronal channelopathies cause brain disorders, including epilepsy, migraine, and ataxia. Despite the development of mouse models, pathophysiological…”
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Brain transcriptional and epigenetic associations with autism by Ginsberg, Matthew R, Rubin, Robert A, Falcone, Tatiana, Ting, Angela H, Natowicz, Marvin R

“…Autism is a common neurodevelopmental syndrome. Numerous rare genetic etiologies are reported; most cases are idiopathic. To uncover important gene…”
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Visual Music: Calligraphy & Sacred Texts by NATOWICZ, R .E.

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Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder by Abraham, Joseph R., Allen, Frederick M., Barnard, John, Schlatzer, Daniela, Natowicz, Marvin R.

“…Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body…”
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New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN by HOGARTH, Penelope, GREGORY, Allison, FOULDS, Nicola C, HAMMANS, Simon R, DESGUERRE, Isabelle, RODRIGUEZ, Diana, WILSON, Callum, DIEDRICH, Andrea, GREEN, Sarah, TRAN, Huong, REESE, Lindsay, WOLTJER, Randall L, KRUER, Michael C, HAYFLICK, Susan J, SANFORD, Lynn, WAGONER, Wendy, NATOWICZ, Marvin R, EGEL, Robert T, SUBRAMONY, S. H, GOLDMAN, Jennifer G, BERRY-KRAVIS, Elizabeth

“…To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the…”
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Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings by Mochel, Fanny, Schiffmann, Raphael, Steenweg, Marjan E., Akman, Hasan O., Wallace, Mary, Sedel, Frédéric, Laforêt, Pascal, Levy, Richard, Powers, J. Michael, Demeret, Sophie, Maisonobe, Thierry, Froissart, Roseline, Da Nobrega, Bruno Barcelos, Fogel, Brent L., Natowicz, Marvin R., Lubetzki, Catherine, Durr, Alexandra, Brice, Alexis, Rosenmann, Hanna, Barash, Varda, Kakhlon, Or, Gomori, J. Moshe, van der Knaap, Marjo S., Lossos, Alexander

“…Objective: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and…”
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Mitochondrial disease in autism spectrum disorder patients: a cohort analysis by Weissman, Jacqueline R, Kelley, Richard I, Bauman, Margaret L, Cohen, Bruce H, Murray, Katherine F, Mitchell, Rebecca L, Kern, Rebecca L, Natowicz, Marvin R

“…Previous reports indicate an association between autism spectrum disorders (ASD) and disorders of mitochondrial oxidative phosphorylation. One study suggested…”
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A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features by Kellaris, Georgios, Khan, Kamal, Baig, Shahid M, Tsai, I-Chun, Zamora, Francisca Millan, Ruggieri, Paul, Natowicz, Marvin R, Katsanis, Nicholas

“…Intellectual disability (ID) is a common condition with a population prevalence frequency of 1-3% and an enrichment for males, driven in part by the…”
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Metabolomic biomarkers in autism: identification of complex dysregulations of cellular bioenergetics by Smith, Alan M, Donley, Elizabeth L R, Ney, Denise M, Amaral, David G, Burrier, Robert E, Natowicz, Marvin R

“…Autism Spectrum Disorder (ASD or autism) is a phenotypically and etiologically heterogeneous condition. Identifying biomarkers of clinically significant…”
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Editorial: Secondary vs. Idiopathic Autism by Casanova, Manuel F, Casanova, Emily L, Frye, Richard Eugene, Baeza-Velasco, Carolina, LaSalle, Janine M, Hagerman, Randi Jensen, Scherer, Stephen W, Natowicz, Marvin R

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A picture is worth a thousand words: A proposal to incorporate video into the evaluation of adults with intellectual or developmental disability living outside the home by Prager, Briana C, Broder, Sherri M, Natowicz, Marvin R

“…Adults with intellectual or developmental disability (IDD) comprise 1-2% of the population worldwide. IDD is a significant risk factor for premature morbidity…”
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Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities by Talkowski, Michael E., Maussion, Gilles, Crapper, Liam, Rosenfeld, Jill A., Blumenthal, Ian, Hanscom, Carrie, Chiang, Colby, Lindgren, Amelia, Pereira, Shahrin, Ruderfer, Douglas, Diallo, Alpha B., Lopez, Juan Pablo, Turecki, Gustavo, Chen, Elizabeth S., Gigek, Carolina, Harris, David J., Lip, Va, An, Yu, Biagioli, Marta, MacDonald, Marcy E., Lin, Michael, Haggarty, Stephen J., Sklar, Pamela, Purcell, Shaun, Kellis, Manolis, Schwartz, Stuart, Shaffer, Lisa G., Natowicz, Marvin R., Shen, Yiping, Morton, Cynthia C., Gusella, James F., Ernst, Carl

“…Large intergenic noncoding (linc) RNAs represent a newly described class of ribonucleic acid whose importance in human disease remains undefined. We identified…”
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Double outlet right ventricle: aetiologies and associations by Obler, D, Juraszek, A L, Smoot, L B, Natowicz, M R

“…Double outlet right ventricle (DORV), a clinically significant congenital heart defect, occurs in 1-3% of individuals with congenital heart defects. In…”
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Ki67 expression in the primary tumor predicts for clinical benefit and time to progression on first-line endocrine therapy in estrogen receptor-positive metastatic breast cancer by Delpech, Y., Wu, Y., Hess, K. R., Hsu, L., Ayers, M., Natowicz, R., Coutant, C., Rouzier, R., Barranger, E., Hortobagyi, G. N., Mauro, D., Pusztai, L.

“…We examined whether baseline Ki67 expression in estrogen receptor-positive (ER+) primary breast cancer correlates with clinical benefit and time to progression…”
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Early Intervention for Children With Autism Spectrum Disorder Under 3 Years of Age: Recommendations for Practice and Research by Zwaigenbaum, Lonnie, Bauman, Margaret L, Choueiri, Roula, Kasari, Connie, Carter, Alice, Granpeesheh, Doreen, Mailloux, Zoe, Smith Roley, Susanne, Wagner, Sheldon, Fein, Deborah, Pierce, Karen, Buie, Timothy, Davis, Patricia A, Newschaffer, Craig, Robins, Diana, Wetherby, Amy, Stone, Wendy L, Yirmiya, Nurit, Estes, Annette, Hansen, Robin L, McPartland, James C, Natowicz, Marvin R

“…This article reviews current evidence for autism spectrum disorder (ASD) interventions for children aged <3 years, based on peer-reviewed articles published up…”
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Mutations in HYAL1, a Member of a Tandemly Distributed Multigene Family Encoding Disparate Hyaluronidase Activities, Cause a Newly Described Lysosomal Disorder, Mucopolysaccharidosis IX by Triggs-Raine, Barbara, Salo, Timothy J., Zhang, Hong, Wicklow, Brandy A., Natowicz, Marvin R.

“…Hyaluronan (HA), a large glycosaminoglycan abundant in the extracellular matrix, is important in cell migration during embryonic development, cellular…”
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Early Screening of Autism Spectrum Disorder: Recommendations for Practice and Research by Zwaigenbaum, Lonnie, Bauman, Margaret L, Fein, Deborah, Pierce, Karen, Buie, Timothy, Davis, Patricia A, Newschaffer, Craig, Robins, Diana L, Wetherby, Amy, Choueiri, Roula, Kasari, Connie, Stone, Wendy L, Yirmiya, Nurit, Estes, Annette, Hansen, Robin L, McPartland, James C, Natowicz, Marvin R, Carter, Alice, Granpeesheh, Doreen, Mailloux, Zoe, Smith Roley, Susanne, Wagner, Sheldon

“…This article reviews current evidence for autism spectrum disorder (ASD) screening based on peer-reviewed articles published to December 2013. Screening…”
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Proteomic Investigations of Autism Brain Identify Known and Novel Pathogenetic Processes by Abraham, Joseph R., Szoko, Nicholas, Barnard, John, Rubin, Robert A., Schlatzer, Daniela, Lundberg, Kathleen, Li, Xiaolin, Natowicz, Marvin R.

“…Autism Spectrum Disorder (ASD) is a set of heterogeneous neurodevelopmental conditions defined by impairments in social communication and restricted,…”
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