يعرض 1 - 10 نتائج من 45 نتيجة بحث عن '"Lee, Henry H C"', وقت الاستعلام: 0.94s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

    المؤلفون: Tokatly Latzer, Itay, Roullet, Jean-Baptiste, Afshar-Saber, Wardiya, Lee, Henry H C, Bertoldi, Mariarita, McGinty, Gabrielle E, DiBacco, Melissa L, Arning, Erland, Tsuboyama, Melissa, Rotenberg, Alexander, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Juliá-Palacios, Natalia, Gibson, K Michael, Sahin, Mustafa, Pearl, Phillip L

    المساهمون: Tokatly Latzer, Itay, Roullet, Jean-Baptiste, Afshar-Saber, Wardiya, Lee, Henry H C, Bertoldi, Mariarita, Mcginty, Gabrielle E, Dibacco, Melissa L, Arning, Erland, Tsuboyama, Melissa, Rotenberg, Alexander, Opladen, Thoma, Jeltsch, Kathrin, García-Cazorla, Àngel, Juliá-Palacios, Natalia, Gibson, K Michael, Sahin, Mustafa, Pearl, Phillip L

    مصطلحات موضوعية: Development, GABA, Neurotransmitters, Succinic semialdehyde dehydrogenase

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38658850; volume:16; issue:21; firstpage:1; lastpage:15; numberofpages:15; journal:JOURNAL OF NEURODEVELOPMENTAL DISORDERS; https://hdl.handle.net/11562/1125551Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85191295722; https://doi.org/10.1186/s11689-024-09538-9Test

    الإتاحة: https://doi.org/10.1186/s11689-024-09538-9Test
    https://hdl.handle.net/11562/1125551Test

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  2. 2
    دورية أكاديمية
    Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants

    المؤلفون: Tokatly Latzer, Itay, Roullet, Jean-Baptiste, Cesaro, Samuele, DiBacco, Melissa L, Arning, Erland, Rotenberg, Alexander, Lee, Henry H C, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Juliá-Palacios, Natalia, Gibson, K Michael, Bertoldi, Mariarita, Pearl, Phillip L

    المساهمون: Tokatly Latzer, Itay, Roullet, Jean-Baptiste, Cesaro, Samuele, Dibacco, Melissa L, Arning, Erland, Rotenberg, Alexander, Lee, Henry H C, Opladen, Thoma, Jeltsch, Kathrin, García-Cazorla, Àngel, Juliá-Palacios, Natalia, Gibson, K Michael, Bertoldi, Mariarita, Pearl, Phillip L

    مصطلحات موضوعية: n/a

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37962671; info:eu-repo/semantics/altIdentifier/wos/WOS:001104304600001; volume:142; issue:12; firstpage:1755; lastpage:1776; numberofpages:22; journal:HUMAN GENETICS; https://hdl.handle.net/11562/1114807Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85176393117; https://doi.org/10.1007/s00439-023-02613-6Test

    الإتاحة: https://doi.org/10.1007/s00439-023-02613-6Test
    https://hdl.handle.net/11562/1114807Test

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  3. 3
    دورية أكاديمية
    Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency.

    المؤلفون: Lee, Henry H. C., Latzer, Itay Tokatly, Bertoldi, Mariarita, Gao, Guangping, Pearl, Phillip L., Sahin, Mustafa, Rotenberg, Alexander

    المصدر: Journal of Inherited Metabolic Disease; May2024, Vol. 47 Issue 3, p476-493, 18p


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  4. 4
    دورية أكاديمية
    Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency

    المؤلفون: Lee, Henry H C, Latzer, Itay Tokatly, Bertoldi, Mariarita, Gao, Guangping, Pearl, Phillip L, Sahin, Mustafa, Rotenberg, Alexander

    المساهمون: Lee, Henry H C, Latzer, Itay Tokatly, Bertoldi, Mariarita, Gao, Guangping, Pearl, Phillip L, Sahin, Mustafa, Rotenberg, Alexander

    مصطلحات موضوعية: Dravet syndrome, AAV, ALDH5A1, GABA, KCC2, SLC6A1, autosomal dominant, autosomal recessive, delivery route, disease modeling, epilepsy, gene expression, genetic inheritance, haploinsufficiency, neurodevelopment, promoters, protein interaction, viral , vector

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38581234; info:eu-repo/semantics/altIdentifier/wos/WOS:001197378800001; volume:First published online: 06 April 2024; firstpage:1; lastpage:18; numberofpages:18; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11562/1124172Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85189971523; https://doi.org/10.1002/jimd.12735Test

    الإتاحة: https://doi.org/10.1002/jimd.12735Test
    https://hdl.handle.net/11562/1124172Test

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  5. 5
    دورية أكاديمية
    Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

    المؤلفون: Tokatly Latzer, Itay, Bertoldi, Mariarita, Blau, Nenad, DiBacco, Melissa L, Elsea, Sarah H, García-Cazorla, Àngels, Gibson, K Michael, Gropman, Andrea L, Hanson, Ellen, Hoffman, Carolyn, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Knerr, Ina, Lee, Henry H C, Malaspina, Patrizia, McConnell, Alice, Opladen, Thomas, Oppebøen, Mari, Rotenberg, Alexander, Walterfang, Mark, Wang-Tso, Lee, Wevers, Ron A, Roullet, Jean-Baptiste, Pearl, Phillip L

    المساهمون: Tokatly Latzer, Itay, Bertoldi, Mariarita, Blau, Nenad, Dibacco, Melissa L, Elsea, Sarah H, García-Cazorla, Àngel, Gibson, K Michael, Gropman, Andrea L, Hanson, Ellen, Hoffman, Carolyn, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Knerr, Ina, Lee, Henry H C, Malaspina, Patrizia, Mcconnell, Alice, Opladen, Thoma, Oppebøen, Mari, Rotenberg, Alexander, Walterfang, Mark, Wang-Tso, Lee, Wevers, Ron A, Roullet, Jean-Baptiste, Pearl, Phillip L

    مصطلحات موضوعية: GABA, Inherited metabolic disorders, Management, Neurotransmitters, Recommendations, SSADH

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38452608; volume:142; issue:1; firstpage:1; lastpage:13; numberofpages:13; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/11562/1121774Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85187407383; https://doi.org/10.1016/j.ymgme.2024.108363Test

    الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108363Test
    https://hdl.handle.net/11562/1121774Test

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  6. 6
    دورية أكاديمية
    Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency.

    المؤلفون: Tokatly Latzer, Itay, Yang, Edward, Afacan, Onur, Arning, Erland, Rotenberg, Alexander, Lee, Henry H. C., Roullet, Jean‐Baptiste, Pearl, Phillip L.

    المصدر: Journal of Sleep Research; Aug2024, Vol. 33 Issue 4, p1-9, 9p


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  7. 7
    دورية أكاديمية
    Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.

    المؤلفون: Tokatly Latzer, Itay, Hanson, Ellen, Bertoldi, Mariarita, García‐Cazorla, Àngeles, Tsuboyama, Melissa, MacMullin, Paul, Rotenberg, Alexander, Roullet, Jean‐Baptiste, Pearl, Phillip L., Gibson, K Michael, Arning, Erland, DiBacco, Melissa L, Aygun, Deniz, Sachee, Daniyal, Lee, Henry H C, Papadelis, Christos, Opladen, Thomas, Jeltsch, Kathrin, Warfield, Simon, Hoffman, Carolyn

    المصدر: Developmental Medicine & Child Neurology; Dec2023, Vol. 65 Issue 12, p1596-1606, 11p

    مصطلحات موضوعية: SUCCINATE dehydrogenase, AUTISM spectrum disorders, GABA, TRANSCRANIAL magnetic stimulation, NEUROPSYCHOLOGICAL tests

    النص الكامل

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  8. 8
    دورية أكاديمية
    The presence and severity of epilepsy coincide with reduced GABA and cortical excitatory markers in SSADH deficiency

    المؤلفون: Tokatly Latzer, Itay, Bertoldi, Mariarita, DiBacco, Melissa L, Arning, Erland, Tsuboyama, Melissa, MacMullin, Paul, Sachee, Daniyal, Rotenberg, Alexander, Lee, Henry H C, Aygun, Deniz, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Roullet, Jean-Baptiste, Gibson, K Michael, Pearl, Phillip L

    المساهمون: Tokatly Latzer, Itay, Bertoldi, Mariarita, Dibacco, Melissa L, Arning, Erland, Tsuboyama, Melissa, Macmullin, Paul, Sachee, Daniyal, Rotenberg, Alexander, Lee, Henry H C, Aygun, Deniz, Opladen, Thoma, Jeltsch, Kathrin, García-Cazorla, Àngel, Roullet, Jean-Baptiste, Gibson, K Michael, Pearl, Phillip L

    مصطلحات موضوعية: Epileptogenesis, Excitation, Inhibition, Pathomechanism, Seizures

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36961285; info:eu-repo/semantics/altIdentifier/wos/WOS:000964372000001; volume:64; issue:6; firstpage:1516; lastpage:1526; numberofpages:11; journal:EPILEPSIA; https://hdl.handle.net/11562/1089729Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85151999731; https://doi.org/10.1111/epi.17592Test

    الإتاحة: https://doi.org/10.1111/epi.17592Test
    https://hdl.handle.net/11562/1089729Test

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  9. 9
    دورية أكاديمية
    Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency.

    المؤلفون: Tokatly Latzer, Itay, Yang, Edward, Afacan, Onur, Arning, Erland, Rotenberg, Alexander, Lee, Henry H C, Roullet, Jean-Baptiste, Pearl, Phillip L

    المصدر: J Sleep Res ; ISSN:1365-2869

    مصطلحات موضوعية: 4-hydroxybutyric aciduria, ALDH5A1, gamma-aminobutyric acid, perivascular, sleep

    العلاقة: https://doi.org/10.1111/jsr.14105Test; https://pubmed.ncbi.nlm.nih.gov/38148273Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11199373Test/

    الإتاحة: https://doi.org/10.1111/jsr.14105Test
    https://pubmed.ncbi.nlm.nih.gov/38148273Test
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11199373Test/

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  10. 10
    دورية أكاديمية
    The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.

    المؤلفون: Tokatly Latzer, Itay, Bertoldi, Mariarita, DiBacco, Melissa L., Arning, Erland, Tsuboyama, Melissa, MacMullin, Paul, Sachee, Daniyal, Rotenberg, Alexander, Lee, Henry H. C., Aygun, Deniz, Opladen, Thomas, Jeltsch, Kathrin, García‐Cazorla, Àngels, Roullet, Jean‐Baptiste, Gibson, K. Michael, Pearl, Phillip L.

    المصدر: Epilepsia (Series 4); Jun2023, Vol. 64 Issue 6, p1516-1526, 11p

    مصطلحات موضوعية: EPILEPSY, SUCCINATE dehydrogenase, NUCLEAR magnetic resonance spectroscopy, RECEIVER operating characteristic curves, TRANSCRANIAL magnetic stimulation

    النص الكامل

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