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zadetkov: 81
1.
  • Creatine transporter (CrT; ... Creatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiency
    Skelton, Matthew R; Schaefer, Tori L; Graham, Devon L ... PloS one, 01/2011, Letnik: 6, Številka: 1
    Journal Article
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    Mutations in the creatine (Cr) transporter (CrT; Slc6a8) gene lead to absence of brain Cr and intellectual disabilities, loss of speech, and behavioral abnormalities. To date, no mouse model of CrT ...
Celotno besedilo
Dostopno za: DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK

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2.
  • High Prevalence of SLC6A8 D... High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation
    Rosenberg, Efraim H.; Almeida, Ligia S.; Kleefstra, Tjitske ... American journal of human genetics, 07/2004, Letnik: 75, Številka: 1
    Journal Article
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    A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the creatine transporter gene, SLC6A8. We have ...
Celotno besedilo
Dostopno za: GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP

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3.
  • Cyclocreatine treatment imp... Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency
    Kurosawa, Yuko; Degrauw, Ton J; Lindquist, Diana M ... The Journal of clinical investigation, 08/2012, Letnik: 122, Številka: 8
    Journal Article
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    The second-largest cause of X-linked mental retardation is a deficiency in creatine transporter (CRT; encoded by SLC6A8), which leads to speech and language disorders with severe cognitive ...
Celotno besedilo
Dostopno za: NUK, UL, UM, UPUK

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4.
Celotno besedilo
Dostopno za: NUK, UL, UM, UPUK
5.
  • X-Linked Creatine-Transport... X-Linked Creatine-Transporter Gene ( SLC6A8) Defect: A New Creatine-Deficiency Syndrome
    Salomons, Gajja S.; van Dooren, Silvy J.M.; Verhoeven, Nanda M. ... American journal of human genetics, 06/2001, Letnik: 68, Številka: 6
    Journal Article
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    We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. Proton ...
Celotno besedilo
Dostopno za: GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP

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6.
  • Language and social functio... Language and social functioning in children and adolescents with epilepsy
    Byars, Anna W; deGrauw, Ton J; Johnson, Cynthia S ... Epilepsy & behavior, 02/2014, Letnik: 31
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    Abstract Individuals with epilepsy have difficulties with social function that are not adequately accounted for by seizure severity or frequency. This study examined the relationship between language ...
Celotno besedilo
Dostopno za: GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK

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7.
  • Ictal MEG onset source loca... Ictal MEG onset source localization compared to intracranial EEG and outcome: Improved epilepsy presurgical evaluation in pediatrics
    Fujiwara, Hisako; Greiner, Hansel M; Hemasilpin, Nat ... Epilepsy research, 05/2012, Letnik: 99, Številka: 3
    Journal Article
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    Summary Purpose Magnetoencephalography (MEG) has been shown a useful diagnostic tool for presurgical evaluation of pediatric medically intractable partial epilepsy as MEG source localization has been ...
Celotno besedilo
Dostopno za: GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK

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8.
  • Epidemiology of traumatic b... Epidemiology of traumatic brain injury-associated epilepsy and early use of anti-epilepsy drugs: An analysis of insurance claims data, 2004–2014
    DeGrauw, Xinyao; Thurman, David; Xu, Likang ... Epilepsy research, 10/2018, Letnik: 146
    Journal Article
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    •The study identified more than 2 million new TBI patients over a seven-year period.•Early seizures, more severe TBI and age were associated with a higher risk of PTE.•AED’s did not prevent PTE with ...
Celotno besedilo
Dostopno za: GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK

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9.
  • Design and implementation o... Design and implementation of the first randomized controlled trial of coenzyme Q10 in children with primary mitochondrial diseases
    Stacpoole, Peter W.; deGrauw, Ton.J.; Feigenbaum, Annette S. ... Mitochondrion, 11/2012, Letnik: 12, Številka: 6
    Journal Article
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    We report the design and implementation of the first phase 3 trial of CoenzymeQ 10 (CoQ 10 ) in children with genetic mitochondrial diseases. A novel, rigorous set of eligibility criteria was ...
Celotno besedilo
Dostopno za: GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK

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10.
  • Self‐esteem and symptoms of... Self‐esteem and symptoms of depression in children with seizures: Relationships with neuropsychological functioning and family variables over time
    Austin, Joan K.; Perkins, Susan M.; Johnson, Cynthia S. ... Epilepsia, October 2010, Letnik: 51, Številka: 10
    Journal Article
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    Summary Purpose:  To test over time the relationships of neuropsychological functioning to mental health in children following a first recognized seizure and, of primary importance, to determine if ...
Celotno besedilo
Dostopno za: BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
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zadetkov: 81

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