Search Results - "Goorden, Susanna M I"

Cognitive deficits in Tsc1+/−mice in the absence of cerebral lesions and seizures by Goorden, Susanna M. I., van Woerden, Geeske M., van der Weerd, Louise, Cheadle, Jeremy P., Elgersma, Ype

“…Objective Tuberous sclerosis complex (TSC) is characterized by brain lesions, epilepsy, increased incidence of mental retardation and autism. The causal link…”
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TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice by Abs, Elisabeth, Goorden, Susanna M. I., Schreiber, Jadwiga, Overwater, Iris E., Hoogeveen-Westerveld, Marianne, Bruinsma, Caroline F., Aganović, Elvedin, Borgesius, Nils Z., Nellist, Mark, Elgersma, Ype

“…Objective Seizure development in tuberous sclerosis complex (TSC) correlates with the presence of specific lesions called cortical tubers. Moreover,…”
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Rheb Is Essential for Murine Development by Goorden, Susanna M. I., Hoogeveen-Westerveld, Marianne, Cheng, Caroline, van Woerden, Geeske M., Mozaffari, Melika, Post, Laura, Duckers, Henricus J., Nellist, Mark, Elgersma, Ype

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases by Krab, Lianne C, Goorden, Susanna M.I, Elgersma, Ype

“…Defects in rat sarcoma viral oncogene homolog (RAS)–extracellular signal regulated kinase (ERK) and phosphatidylinositol 3-kinase (PI3K)–mammalian target of…”
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Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan by Wasim, Muhammad, Khan, Haq Nawaz, Ayesha, Hina, Goorden, Susanna M I, Vaz, Frederic M, van Karnebeek, Clara D M, Awan, Fazli Rabbi

“…Inborn errors of metabolism (IEMs) are rare group of genetic disorders comprising of more than 1,000 different types. Around 200 of IEMs are potentially…”
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Temporal and region-specific requirements of αCaMKII in spatial and contextual learning by Achterberg, Katharina G, Buitendijk, Gabriëlle H S, Kool, Martijn J, Goorden, Susanna M I, Post, Laura, Slump, Denise E, Silva, Alcino J, van Woerden, Geeske M, Kushner, Steven A, Elgersma, Ype

“…The α isoform of the calcium/calmodulin-dependent protein kinase II (αCaMKII) has been implicated extensively in molecular and cellular mechanisms underlying…”
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Intact neuronal function in Rheb1 mutant mice: implications for TORC1-based treatments by Goorden, Susanna M I, Abs, Elisabeth, Bruinsma, Caroline F, Riemslagh, Fréderike W, van Woerden, Geeske M, Elgersma, Ype

“…Target of rapamycin complex 1 (TORC1) is an important regulator of neuronal function. However, whereas a modest activation of the TORC1 signaling pathway has…”
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Hereditary folate malabsorption due to a mutation in the external gate of the proton-coupled folate transporter SLC46A1 by Aluri, Srinivas, Zhao, Rongbao, Lubout, Charlotte, Goorden, Susanna M.I., Fiser, Andras, Goldman, I. David

“…Hereditary folate malabsorption (HFM) is an autosomal recessive disorder characterized by impaired intestinal folate absorption and impaired folate transport…”
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Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid by Lubout, Charlotte M.A., Goorden, Susanna M.I., van den Hurk, Karin, Jaeger, Bregje, Jager, Nynke G.L., van Koningsbruggen, Silvana, Chegary, Malika, van Karnebeek, Clara D.M.

“…Hereditary folate malabsorption is a multisystem disease owing to biallelic variants in the gene encoding the proton-coupled folate transporter. Hereditary…”
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Rheb: Enrichment beyond the brain by Goorden, Susanna M.I., Elgersma, Ype

“…Comment on: Goorden SM, et al. Mol Cell Biol 2011; 31:1672-8…”
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Hereditary folate malabsorption due to a mutation in the external gate of the proton-coupled folate transporter SLC46A1 by Aluri, Srinivas, Zhao, Rongbao, Lubout, Charlotte, Goorden, Susanna M I, Fiser, Andras, Goldman, I David

“…Hereditary folate malabsorption (HFM) is an autosomal recessive disorder characterized by impaired intestinal folate absorption and impaired folate transport…”
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Liver disorders in adults: ALT and AST by Goorden, Susanna M I, Buffart, Tineke E, Bakker, Annemieke, Buijs, Madelon M

“…Alanine aminotransferase (ALT) and aspartate aminotransferase (AST) are commonly used biomarkers for liver damage. As well as in liver tissue, AST is also…”
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