POLR3-Related Leukodystrophy: A Qualitative Study on Parents’ Experiences With the Health Care System

Authors: Le, Adam ^{a, b}, Thibault, Kelly-Ann ^{a, b, c}, Yazdani, Pouneh Amir ^{a, b, c}, Bertini, Enrico ^d, Nicita, Francesco ^d, Pohl, Daniela ^e, Venkateswaran, Sunita ^f, Keller, Stephanie ^g, Renaud, Deborah ^h, Moron, Dolores Gonzales ⁱ, Kauffman, Marcelo ⁱ, De Assis Pereira, Danilo ^j, Vanderver, Adeline ^{k, l}, Morsa, Maxime ^{m, 1}, Bernard, Geneviève ^{a, b, n, o, p, ∗, 1}

Source: In Pediatric Neurology May 2025 166:81-87

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Authors: Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G., Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T., Aubertin, Gudrun, Estrada-Veras, Juvianee I., Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L., Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S., Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Ambrose, J.C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z., Mora, Sara, Palculict, Timothy B., Yang, Hui, Wren, Jonathan D., Ben Fowler, Joshi, Manali, Behra, Martine, Burgess, Shawn M., Nath, Swapan K., Hanna, Michael G., Kenna, Margaret, Merritt, J. Lawrence, II, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S., Haaf, Thomas, Alkuraya, Fowzan S., Gleeson, Joseph G., Varshney, Gaurav K.

Source: In Genetics in Medicine October 2021 23(10):1933-1943

Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.

Authors: Lentini, Laura, Toutounchi, Helia, Chapleau, Alexandra, Le, Adam, Fournier, Simon, Emari, Fatemeh, Flamini, Robert, Rossi, Andrea, Gentile, Angela, Bertini, Enrico, Nicita, Francesco, Pohl, Daniela, Venkateswaran, Sunita, Keller, Stephanie, Rossignol, Elsa, Renaud, Deborah, Assis Pereira, Danilo De, Chen, Xiaoru, Vanderver, Adeline, Bernard, Geneviève

Source: Journal of Child Neurology; Jan2025, Vol. 40 Issue 1, p26-38, 13p

Subject Terms: QUALITY of life, SOCIAL services, RNA polymerases, WELL-being, PARENTS

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

Authors: Schirwani, Schaida, Albaba, Shadi, Carere, Deanna Alexis, Guillen Sacoto, Maria J., Milan Zamora, Francisca, Si, Yue, Rabin, Rachel, Pappas, John, Renaud, Deborah L., Hauser, Natalie, Reid, Evan, Blanchet, Patricia, Foulds, Nichola, Dixit, Abhijit, Fisher, Richard, Armstrong, Ruth, Isidor, Bertrand, Cogne, Benjamin, Schrier Vergano, Samantha, Demirdas, Serwet, Dykzeul, Natalie, Cohen, Julie S., Grand, Katheryn, Morel, Dayna, Slavotinek, Anne, Albassam, Hessa F., Naik, Swati, Dean, John, Ragge, Nicola, Cinzia, Costa, Tedesco, Maria Giovanna, Harrison, Rachel E., Bouman, Arjan, Palen, Emily, Challman, Thomas D., Willemsen, Marjolein H., Vogt, Julie, Cunniff, Christopher, Bergstrom, Katherine, Walia, Jagdeep S., Bruel, Ange‐Line, Kini, Usha, Alkuraya, Fowzan S., Slegesky, Valerie, Meeks, Naomi, Girotto, Paula, Johnson, Diana, Newbury‐Ecob, Ruth, Ockeloen, Charlotte W., Prontera, Paolo, Lynch, Sally Ann, Li, Dong, Graham, John M., Balasubramanian, Meena

Source: American journal of medical genetics.Part A. 185(11):3446-3458

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134459155.0x000001&indx=1&recIds=ETOCvdc_100134459155.0x000001

Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus

Authors: Mansukhani, Sasha A., Mehta, Dev G., Renaud, Deborah L., Whealy, Mark A., Chen, John J., Bhatti, M. Tariq

Source: Ophthalmology. 128(4):628-631

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100167390013.0x000001&indx=1&recIds=ETOCvdc_100167390013.0x000001

Stable Leukoencephalopathy in a Patient With ACTA2-Associated Multisystem Smooth Muscle Disorder

Authors: Bieber, David, Port, John D., Renaud, Deborah L.

Source: Neurology. 99(8):338-340

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100169115788.0x000001&indx=1&recIds=ETOCvdc_100169115788.0x000001

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

Authors: 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.

Source: Annals of clinical and translational neurology. 7(6):1013-1028

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107314078.0x000001&indx=1&recIds=ETOCvdc_100107314078.0x000001

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

Authors: Gupta, Aditi, Ewing, Sarah A., Renaud, Deborah L., Hasadsri, Linda, Raymond, Kimiyo M., Klee, Eric W., Gavrilova, Ralitza H.

Source: Clinical case reports. 7(4):632-637

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100085621724.0x000001&indx=1&recIds=ETOCvdc_100085621724.0x000001

Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance

Authors: Mauermann, Michelle L., Niu, Zhiyv, Renaud, Deborah L., Kemppainen, Jennifer L., Schultz, Matthew J., Klein, Christopher J.

Source: NEUROMUSCULAR DISORDERS. 29(2):146-149

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100076644694.0x000001&indx=1&recIds=ETOCvdc_100076644694.0x000001

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Authors: Adang, Laura A., Sherbini, Omar, Ball, Laura, Bloom, Miriam, Darbari, Anil, Amartino, Hernan, DiVito, Donna, Eichler, Florian, Escolar, Maria, Evans, Sarah H., Fatemi, Ali, Fraser, Jamie, Hollowell, Leslie, Jaffe, Nicole, Joseph, Christopher, Karpinski, Mary, Keller, Stephanie, Maddock, Ryan, Mancilla, Edna, McClary, Bruce, Mertz, Jana, Morgart, Kiley, Langan, Thomas, Leventer, Richard, Parikh, Sumit, Pizzino, Amy, Prange, Erin, Renaud, Deborah L., Rizzo, William, Shapiro, Jay, Suhr, Dean, Suhr, Teryn, Tonduti, Davide, Waggoner, Jacque, Waldman, Amy, Wolf, Nicole I., Zerem, Ayelet, Bonkowsky, Joshua L., Bernard, Genevieve, van Haren, Keith, Vanderver, Adeline

Source: In Molecular Genetics and Metabolism September 2017 122(1-2):18-32

Beta-Mannosidosis Is a Cause of Hypomyelination

Authors: Renaud, Deborah L.

Source: Pediatric neurology. 140:76-77

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184628384.0x000001&indx=1&recIds=ETOCvdc_100184628384.0x000001

De Novo DNMIL Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus

Authors: 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

Source: Journal of child neurology. 33(10):651-658

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN617086333&indx=1&recIds=ETOCRN617086333

Internal Carotid Artery Pseudoaneurysm and Ischemic Stroke Secondary to Retropharyngeal and Parapharyngeal Abscess: A Case Report and Review of the Literature

Authors: Ruff, Michael W., Nasr, Deena M., Klaas, James P., Renaud, Deborah L.

Source: Journal of child neurology. 32(2):230-236

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN609797810&indx=1&recIds=ETOCRN609797810

BRAT1-Associated Leukodystrophy Exacerbated by Classic Hodgkin Lymphoma–Directed Therapy.

Authors: Hooshmand, Sara J., Chohan, Karan L., Raghunathan, Aditya, Renaud, Deborah L., Ruff, Michael W.

Source: Neurologist; May2024, Vol. 29 Issue 3, p170-172, 3p

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Authors: Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara, Longo, Nicola, Korenke, G. Christoph, Mercimek-Mahmutoglu, Saadet, Marquart, Iris, Barshop, Bruce, Grolik, Christiane, Schlune, Andrea, Angle, Brad, Araújo, Helena Caldeira, Coskun, Turgay, Diogo, Luisa, Geraghty, Michael, Haliloglu, Goknur, Konstantopoulou, Vassiliki, Leuzzi, Vincenzo, Levtova, Alina, MacKenzie, Jennifer, Maranda, Bruno, Mhanni, Aizeddin A., Mitchell, Grant, Morris, Andrew, Newlove, Theresa, Renaud, Deborah, Scaglia, Fernando, Valayannopoulos, Vassili, van Spronsen, Francjan J., Verbruggen, Krijn T., Yuskiv, Nataliya, Nyhan, William, Schulze, Andreas

Source: In Molecular Genetics and Metabolism January 2014 111(1):16-25

Adult-Onset Leukoencephalopathies

Authors: Renaud, Deborah L.

Source: Continuum. 22(2):559-578

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100034636687.0x000001&indx=1&recIds=ETOCvdc_100034636687.0x000001

Chapter 16 - Pediatric leukodystrophies

Authors: Renaud, Deborah L.

Source: In Advances in Magnetic Resonance Technology and Applications 2023 9:405-424

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes

Authors: Comeaux, Matthew S., Wang, Jing, Wang, Guoli, Kleppe, Soledad, Zhang, Victor Wei, Schmitt, Eric S., Craigen, William J., Renaud, Deborah, Sun, Qin, Wong, Lee-Jun

Source: In Molecular Genetics and Metabolism July 2013 109(3):260-268

Treatment of Low Cerebrospinal Fluid 5-Methyltetrahydrofolate With Leucovorin Improves Seizure Control and Development in PCDH19-Related Epilepsy

Authors: Renaud, Deborah L.

Source: Pediatric neurology. 114:9-10

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128405473.0x000001&indx=1&recIds=ETOCvdc_100128405473.0x000001

Neuronal Voltage-Gated Potassium Channel Complex Autoimmunity in Children

Authors: Dhamija, Radhika, Renaud, Deborah L., Pittock, Sean J., McKeon, Andrew, Lachance, Daniel H., Nickels, Katherine C., Wirrell, Elaine C., Kuntz, Nancy L., King, Mary D., Lennon, Vanda A.

Source: In Pediatric Neurology 2011 44(4):275-281