The neurological disease ontology
Jensen, Mark, Cox, Alexander P, Chaudhry, Naveed, Ng, Marcus, Sule, Donat, Duncan, William, Ray, Patrick, Weinstock-Guttman, Bianca, Smith, Barry, Ruttenberg, Alan, Szigeti, Kinga, Diehl, Alexander D
Published in Journal of biomedical semantics (06.12.2013)
Published in Journal of biomedical semantics (06.12.2013)
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SIMPLE mutations in Charcot‐Marie‐Tooth disease and the potential role of its protein product in protein degradation
Saifi, Gulam Mustafa, Szigeti, Kinga, Wiszniewski, Wojciech, Shy, Michael E., Krajewski, Karen, Hausmanowa‐Petrusewicz, Irena, Kochanski, Andrzej, Reeser, Suzanne, Mancias, Pedro, Butler, Ian, Lupski, James R.
Published in Human mutation (01.04.2005)
Published in Human mutation (01.04.2005)
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Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease
Szigeti, Kinga, Li, Yanchun, Shaw, Chad, Sheffer, Irene, Sule, Norbert, Powell, Suzanne, Zaidi, Noman, Lupski, James, Wilhelmsen, Kirk, Doody, Rachelle
Published in Alzheimer's & dementia (01.07.2012)
Published in Alzheimer's & dementia (01.07.2012)
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P4‐114: Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease
Szigeti, Kinga, Li, Yanchun, Shaw, Chad, Sheffer, Irene, Sule, Norbert, Powell, Suzanne, Zaidi, Noman, Lupski, James, Wilhelmsen, Kirk, Doody, Rachelle
Published in Alzheimer's & dementia (01.07.2012)
Published in Alzheimer's & dementia (01.07.2012)
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A Rare Myelin Protein Zero
Antonellis, Anthony, Dennis, Megan Y, Burzynski, Grzegorz, Huynh, Jimmy, Maduro, Valerie, Hodonsky, Chani J, Khajavi, Mehrdad, Szigeti, Kinga, Mukkamala, Sandeep, Bessling, Seneca L, Pavan, William J, McCallion, Andrew S, Lupski, James R, Green, Eric D
Published in PloS one (16.12.2010)
Published in PloS one (16.12.2010)
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T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy
Shy, Michael E., Scavina, Mena T., Clark, Alisa, Krajewski, Karen M., Li, Jun, Kamholz, John, Kolodny, Edwin, Szigeti, Kinga, Fischer, Richard A., Mustafa Saifi, Gulam, Scherer, Steven S., Lupski, James R.
Published in Annals of neurology (01.02.2006)
Published in Annals of neurology (01.02.2006)
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Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations
SZIGETI, Kinga, WISZNIEWSKI, Wojciech, DAENTL, Donna, BROPHY, Peter J, LUPSKI, James R, SAIFI, Gulam Mustafa, SHERMAN, Diane L, SULE, Norbert, ADESINA, Adekunle M, MANCIAS, Pedro, PAPASOZOMENOS, Sozos Ch, MILLER, Geoffrey, KEPPEN, Laura
Published in Neurogenetics (01.11.2007)
Published in Neurogenetics (01.11.2007)
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Journal Article
Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation
Szigeti, Kinga, Saifi, Gulam Mustafa, Armstrong, Dawna, Belmont, John W., Miller, Geoffrey, Lupski, James R.
Published in Annals of neurology (01.09.2003)
Published in Annals of neurology (01.09.2003)
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Journal Article
Genome-Wide Scan for Copy Number Variation Association with Biomarker Quantitative Trait Loci in Aging
Szigeti, K., Trummer, B., Lal, D., Doody, R.S., Yan, L., Liu, S., Ma, C.
Published in European journal of inflammation (01.05.2014)
Published in European journal of inflammation (01.05.2014)
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Journal Article
Increased blood-brain barrier permeability with thymidine phosphorylase deficiency
Szigeti, K., Sule, N., Adesina, A. M., Armstrong, D. L., Saifi, G. M., Bonilla, E., Hirano, M., Lupski, J. R.
Published in Annals of neurology (01.12.2004)
Published in Annals of neurology (01.12.2004)
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Journal Article
Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies
Saifi, Gulam Mustafa, Szigeti, Kinga, Snipes, Jackson G., Garcia, Carlos A., Lupski, James R.
Published in Journal of investigative medicine (01.09.2003)
Published in Journal of investigative medicine (01.09.2003)
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Journal Article
Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies
Saifi, Gulam Mustafa, Szigeti, Kinga, Snipes, G. Jackson, Garcia, Carlos A., Lupski, James R.
Published in Journal of investigative medicine (2003)
Published in Journal of investigative medicine (2003)
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