Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions
Ahmadi, Zohreh Ziatabar, DiBacco, Melissa L, Pearl, Phillip L
Published in Journal of child neurology (01.11.2021)
Published in Journal of child neurology (01.11.2021)
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The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency
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.
Published in Epilepsia (Copenhagen) (01.06.2023)
Published in Epilepsia (Copenhagen) (01.06.2023)
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Sporadic and Periodic Interictal Discharges in Critically Ill Children: Seizure Associations and Time to Seizure Identification
Sansevere, Arnold J, DiBacco, Melissa L, Zhang, Bo, Akhondi-Asl, Alireza, Libenson, Mark H, Tasker, Robert C, Pearl, Phillip L
Published in Journal of clinical neurophysiology (01.02.2023)
Published in Journal of clinical neurophysiology (01.02.2023)
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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
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
Published in Journal of neurodevelopmental disorders (24.04.2024)
Published in Journal of neurodevelopmental disorders (24.04.2024)
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Quantitative Electroencephalography for Early Detection of Elevated Intracranial Pressure in Critically Ill Children: Case Series and Proposed Protocol
Sansevere, Arnold J, DiBacco, Melissa L, Pearl, Phillip L, Rotenberg, Alexander
Published in Journal of child neurology (01.01.2022)
Published in Journal of child neurology (01.01.2022)
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Journal Article
Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study
Pearl, Phillip L, DiBacco, Melissa L, Papadelis, Christos, Opladen, Thomas, Hanson, Ellen, Roullet, Jean-Baptiste, Gibson, K Michael
Published in Journal of child neurology (01.11.2021)
Published in Journal of child neurology (01.11.2021)
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Journal Article
Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency
Afacan, Onur, Yang, Edward, Lin, Alexander P, Coello, Eduardo, DiBacco, Melissa L, Pearl, Phillip L, Warfield, Simon K, Consortium, Ssadh Deficiency Investigators
Published in Journal of child neurology (01.11.2021)
Published in Journal of child neurology (01.11.2021)
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Proceedings of the International SSADH Deficiency 2020 Conference
Pearl, Phillip L, DiBacco, Melissa L, Roullet, Jean-Baptiste, Gibson, K Michael
Published in Journal of child neurology (01.11.2021)
Published in Journal of child neurology (01.11.2021)
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Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
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.
Published in Human genetics (01.12.2023)
Published in Human genetics (01.12.2023)
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Journal Article
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
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.
Published in Molecular genetics and metabolism (01.05.2024)
Published in Molecular genetics and metabolism (01.05.2024)
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Burden of illness in aromatic l‐amino acid decarboxylase deficiency
DiBacco, Melissa L., Hinahara, Jordan, Goss, Thomas F., Pearl, Phillip L.
Published in Annals of Child Neurology Society (01.03.2023)
Published in Annals of Child Neurology Society (01.03.2023)
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Journal Article
Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism
Bose, Mousumi, Roullet, Jean-Baptiste, Gibson, K Michael, Rizzo, William B, Mansur, Hana M, McConnell, Alice, Hoffman, Carolyn A, DiBacco, Melissa L, Pearl, Phillip L
Published in Journal of child neurology (01.11.2021)
Published in Journal of child neurology (01.11.2021)
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GABA Transaminase Deficiency With Survival Into Adulthood
Hegde, Anaita U, Karnavat, Purva K, Vyas, R, DiBacco, Melissa L, Grant, P Ellen, Pearl, Phillip L
Published in Journal of child neurology (01.03.2019)
Published in Journal of child neurology (01.03.2019)
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Journal Article
Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism
Papadelis, Christos, Ntolkeras, Georgios, Tokatly Latzer, Itay, DiBacco, Melissa L, Afacan, Onur, Warfield, Simon, Shi, Xutong, Roullet, Jean-Baptiste, Gibson, K Michael, Pearl, Phillip L
Published in Brain communications (2023)
Published in Brain communications (2023)
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MDS 관련 빈혈 및 기타 상태를 치료하기 위한 화합물
DANG LENNY, LYNCH MEGAN, XIAO ZHEN, BEYNON VANESSA, IYER VARSHA V, YIN OPHELIA QIPING, URBSTONAITIS ROLANDAS, DIBACCO MELISSA L, BHATIA SUMAN JOY, KUNG CHARLES
Year of Publication 09.07.2024
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Year of Publication 09.07.2024
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Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency
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
Published in Developmental medicine and child neurology (01.12.2023)
Published in Developmental medicine and child neurology (01.12.2023)
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