Pseudopapilledema in Cockayne syndrome
Brodsky, Michael C., Renaud, Deborah L.
Published in American journal of ophthalmology case reports (01.06.2021)
Published in American journal of ophthalmology case reports (01.06.2021)
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Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity
Berhe, Simon, Heeney, Matthew M, Campagna, Dean R, Thompson, John F, White, Eric J, Ross, Tristen, Peake, Roy Wa, Hanrahan, Jeffery D, Rodriguez, Vilmarie, Renaud, Deborah L, Patnaik, Mrinal S, Chang, Eugenia, Bottomley, Sylvia S, Fleming, Mark D
Published in Haematologica (Roma) (01.12.2018)
Published in Haematologica (Roma) (01.12.2018)
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Neuronal Voltage-Gated Potassium Channel Complex Autoimmunity in Children
Dhamija, Radhika, MD, Renaud, Deborah L., MD, Pittock, Sean J., MD, McKeon, Andrew, MD, Lachance, Daniel H., MD, Nickels, Katherine C., MD, Wirrell, Elaine C., MD, Kuntz, Nancy L., MD, King, Mary D., MD, Lennon, Vanda A., MD, PhD
Published in Pediatric neurology (01.04.2011)
Published in Pediatric neurology (01.04.2011)
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Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis
Lund, Troy C., Miller, Weston P., Eisengart, Julie B., Simmons, Katrina, Pollard, Laura, Renaud, Deborah L., Wenger, David A., Patterson, Marc C., Orchard, Paul J
Published in Molecular genetics & genomic medicine (01.07.2019)
Published in Molecular genetics & genomic medicine (01.07.2019)
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Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
Blackburn, Patrick R., Schultz, Matthew J., Lahner, Carrie A., Li, Dong, Bhoj, Elizabeth, Fisher, Laura J., Renaud, Deborah L., Kenney, Amy, Ibrahim, Niema, Hashem, Mais, Zain Seidahmed, Mohammed, Hasadsri, Linda, Schrier Vergano, Samantha A., Alkuraya, Fowzan S., Lanpher, Brendan C.
Published in Annals of clinical and translational neurology (01.06.2020)
Published in Annals of clinical and translational neurology (01.06.2020)
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CSF and Blood Levels of GFAP in Alexander Disease
Jany, Paige L, Agosta, Guillermo E, Benko, William S, Eickhoff, Jens C, Keller, Stephanie R, Köehler, Wolfgang, Koeller, David, Mar, Soe, Naidu, Sakkubai, Marie Ness, Jayne, Pareyson, Davide, Renaud, Deborah L, Salsano, Ettore, Schiffmann, Raphael, Simon, Julie, Vanderver, Adeline, Eichler, Florian, van der Knaap, Marjo S, Messing, Albee
Published in eNeuro (01.09.2015)
Published in eNeuro (01.09.2015)
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De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus
Ryan, Conor S, Fine, Anthony L, Cohen, Alexander L, Schiltz, Brenda M, Renaud, Deborah L, Wirrell, Elaine C, Patterson, Marc C, Boczek, Nicole J, Liu, Raymond, Babovic-Vuksanovic, Dusica, Chan, David C, Payne, Eric T
Published in Journal of child neurology (01.09.2018)
Published in Journal of child neurology (01.09.2018)
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