Leigh syndrome global patient registry: uniting patients and researchers worldwide
Zilber, Sophia, Woleben, Kasey, Johnson, Simon C, de Souza, Carolina Fischinger Moura, Boyce, Danielle, Freiert, Kevin, Boggs, Courtney, Messahel, Souad, Burnworth, Melinda J, Afolabi, Titilola M, Kayani, Saima
Published in Orphanet journal of rare diseases (04.09.2023)
Published in Orphanet journal of rare diseases (04.09.2023)
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Journal Article
Mitochondrial encephalopathies and myopathies: Our tertiary center's experience
Ozlu, Can, Messahel, Souad, Minassian, Berge, Kayani, Saima
Published in European journal of paediatric neurology (01.05.2024)
Published in European journal of paediatric neurology (01.05.2024)
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Journal Article
H - 17 Neuropsychological Assessment in Rare Pediatric Neurogenetic Disorders: Considerations for Clinical Research
Dorsman, Karen A, MacDonald, Beatriz, Messahel, Souad, Horton, Daniel, Edgar, Veronica Bordes
Published in Archives of clinical neuropsychology (20.10.2023)
Published in Archives of clinical neuropsychology (20.10.2023)
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Journal Article
Natural History of SURF1 Deficiency: A Retrospective Chart Review
Khan, Tuba Rashid, Leprince, Inka, Messahel, Souad, Minassian, Berge A., Kayani, Saima
Published in Pediatric neurology (01.03.2023)
Published in Pediatric neurology (01.03.2023)
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Journal Article
Preliminary safety data of a phase 1 first in-human clinical trial support the use of high dose intrathecal AAV9/CLN7 for the treatment of patients with CLN7 disease
Kayani, Saima, Chen, Xin, Messahel, Souad, Edgar, Veronica, Iannaccone, Susan, Gray, Steven, Minassian, Berge, Greenberg, Benjamin
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Journal Article
ECHS1 deficiency and its biochemical and clinical phenotype
Ozlu, Can, Chelliah, Priya, Dahshi, Hamza, Horton, Daniel, Edgar, Veronica B., Messahel, Souad, Kayani, Saima
Published in American journal of medical genetics. Part A (01.10.2022)
Published in American journal of medical genetics. Part A (01.10.2022)
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Journal Article
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient
Dowling, James J., Pirovolakis, Terry, Devakandan, Keshini, Stosic, Ana, Pidsadny, Mia, Nigro, Elisa, Sahin, Mustafa, Ebrahimi-Fakhari, Darius, Messahel, Souad, Varadarajan, Ganapathy, Greenberg, Benjamin M., Chen, Xin, Minassian, Berge A., Cohn, Ronald, Bonnemann, Carsten G., Gray, Steven J.
Published in Nature medicine (01.07.2024)
Published in Nature medicine (01.07.2024)
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Journal Article
Formula: see text Neuropsychological assessment in rare pediatric neurogenetic disorders: considerations for cross-cultural clinical research
Bordes Edgar, Veronica, Dorsman, Karen A, Horton, Daniel, Messahel, Souad, MacDonald, Beatriz
Published in Child neuropsychology (01.08.2024)
Published in Child neuropsychology (01.08.2024)
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Journal Article
1 H and 31 P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease
Chan, Kimberly L, Panatpur, Aparna, Messahel, Souad, Dahshi, Hamza, Johnson, Talon, Henning, Anke, Ren, Jimin, Minassian, Berge A
Published in Brain communications (2024)
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Published in Brain communications (2024)
Journal Article
1H and 31P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease
Chan, Kimberly L, Panatpur, Aparna, Messahel, Souad, Dahshi, Hamza, Johnson, Talon, Henning, Anke, Ren, Jimin, Minassian, Berge A
Published in Brain communications (01.03.2024)
Published in Brain communications (01.03.2024)
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Journal Article
Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeuticsResearch in context
Ashley A. Rowe, Xin Chen, Emily R. Nettesheim, Yacine Issioui, Thomas Dong, Yuhui Hu, Souad Messahel, Saima N. Kayani, Steven J. Gray, Katherine J. Wert
Published in EBioMedicine (01.11.2022)
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Published in EBioMedicine (01.11.2022)
Journal Article
Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeutics
Rowe, Ashley A., Chen, Xin, Nettesheim, Emily R., Issioui, Yacine, Dong, Thomas, Hu, Yuhui, Messahel, Souad, Kayani, Saima N., Gray, Steven J., Wert, Katherine J.
Published in EBioMedicine (01.11.2022)
Published in EBioMedicine (01.11.2022)
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Journal Article
HIGH-MOBILITY GROUP BOX 1 (HMGB1) EXPRESSION IS INCREASED IN THE NORMAL-APPEARING BRAIN TISSUE OF MULTIPLE SCLEROSIS (MS) PATIENTS VS. CONTROLS
Hassan-Smith, Ghaniah Z, Messahel, Souad, Mazibrada, Gordon, Gonzalez, Ana Maria, Nagaraju, Santhosh, Carey, Martyn, Curnow, John, Douglas, Michael
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2014)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2014)
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Journal Article
Thymidine phosphorylase expression in metastatic kidney cancer as a potential predictor of outcome in patients treated with sunitinib
Miscoria, Manuela, Di Loreto, Carla, Puglisi, Fabio, Murray, Paul Gerard, Deroma, Laura, Atmadini, Maizaton, Messahel, Souad, Fasola, Gianpiero, James, Nicholas David, Porfiri, Emilio
Published in Journal of clinical oncology (20.05.2012)
Published in Journal of clinical oncology (20.05.2012)
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Journal Article
Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills
Kayani, Saima, Edgar, Veronica Bordes, Lowden, Andrea, Nettesheim, Emily R, Dahshi, Hamza, Messahel, Souad, Minassian, Berge A, Greenberg, Benjamin M
Published in Research square (26.06.2024)
Published in Research square (26.06.2024)
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Journal Article
Effects of isoflurane, sevoflurane and propofol anaesthesia on jugular venous oxygen saturation in patients undergoing coronary artery bypass surgery
Nandate, Koichiroh, Vuylsteke, Alain, Ratsep, Indrek, Messahel, Souad, Oduro-Dominah, Amo, Menon, David K., Matta, Basil F.
Published in British Journal of Anaesthesia (01.05.2000)
Published in British Journal of Anaesthesia (01.05.2000)
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Journal Article
Conference Proceeding
Cerebrovascular Cytokine Responses During Coronary Artery Bypass Surgery: Specific Production of Interleukin-8 and Its Attenuation by Hypothermic Cardiopulmonary Bypass
NANDATE, K, VUYLSTEKE, A, CROSBIE, A. E, MESSAHEL, S, ODURO-DOMINAH, A, MENON, D. K
Published in Anesthesia and analgesia (01.10.1999)
Published in Anesthesia and analgesia (01.10.1999)
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Journal Article
Cerebrovascular Cytokine Responses During Coronary Artery Bypass Surgery: Specific Production of Interleukin-8 and Its Attenuation by Hypothermic Cardiopulmonary Bypass
Nandate, Koichiroh, Vuylsteke, Alain, Crosbie, Alan E., Messahel, Souad, Oduro-Dominah, Amo, Menon, David K.
Published in Anesthesia and analgesia (01.10.1999)
Published in Anesthesia and analgesia (01.10.1999)
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Journal Article
Abnormalities in urinary pterin levels in Rett syndrome
Messahel, Souad, Pheasant, Anne E, Pall, Hardiv, Kerr, Alison M
Published in European journal of paediatric neurology (2000)
Published in European journal of paediatric neurology (2000)
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Journal Article