Publications by authors named "Deborah Renaud"

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Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Mackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, Alexa Derksen, Quentin Sabbagh, Deborah L Renaud

HGG Adv· October 2025

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POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.
Adam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, Enrico Bertini, Francesco Nicita, Deborah Renaud

Pediatr Neurol· May 2025

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Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.
Laura Lentini, Helia Toutounchi, Alexandra Chapleau, Adam Le, Simon Fournier, Deborah Renaud

J Child Neurol· January 2025

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BRAT1-Associated Leukodystrophy Exacerbated by Classic Hodgkin Lymphoma-Directed Therapy.
Sara J Hooshmand, Karan L Chohan, Aditya Raghunathan, Deborah L Renaud, Michael W Ruff

Neurologist· May 2024

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Beta-Mannosidosis Is a Cause of Hypomyelination.
Deborah L Renaud

Pediatr Neurol· March 2023

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Stable Leukoencephalopathy in a Patient With -Associated Multisystem Smooth Muscle Disorder.
David Bieber, John D Port, Deborah L Renaud

Neurology· August 2022

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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, Maria J Guillen Sacoto, Francisca Milan Zamora, Deborah L Renaud

Am J Med Genet A· November 2021

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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Sheng-Jia Lin, Barbara Vona, Patricia G Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Deborah L Renaud

Genet Med· October 2021

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Neuropsychological Functioning in Alexander Disease: A Case Series.
Alexandra C Kirsch, Dana M McCall, Hadley Lange, Deborah Renaud, Tanya Brown

Child Neurol Open· October 2021

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Pseudopapilledema in Cockayne syndrome.
Michael C Brodsky, Deborah L Renaud

Am J Ophthalmol Case Rep· June 2021

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Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus.
Sasha A Mansukhani, Dev G Mehta, Deborah L Renaud, Mark A Whealy, John J Chen

Ophthalmology· April 2021

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

Pediatr Neurol· January 2021

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Theodore G Drivas, Dong Li, Divya Nair, Joseph T Alaimo, Mariëlle Alders, Deborah L Renaud

Eur J Hum Genet· October 2020

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Expansion of -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report.
Nicole J Boczek, Erica L Macke, Jennifer Kemppainen, Eric W Klee, Deborah L Renaud

Child Neurol Open· October 2020

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Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Patrick R Blackburn, Matthew J Schultz, Carrie A Lahner, Dong Li, Elizabeth Bhoj, Deborah L Renaud

Ann Clin Transl Neurol· June 2020

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Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Stefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, Megan K Dishop, Mackenzie A Michell-Robinson, Deborah L Renaud

Neurol Genet· June 2020

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Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis.
Troy C Lund, Weston P Miller, Julie B Eisengart, Katrina Simmons, Laura Pollard, Deborah L Renaud

Mol Genet Genomic Med· July 2019

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Developmental delay, coarse facial features, and epilepsy in a patient with gene variants.
Aditi Gupta, Sarah A Ewing, Deborah L Renaud, Linda Hasadsri, Kimiyo M Raymond

Clin Case Rep· April 2019

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Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance.
Michelle L Mauermann, Zhiyv Niu, Deborah L Renaud, Jennifer L Kemppainen, Matthew J Schultz

Neuromuscul Disord· February 2019

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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.
Simon Berhe, Matthew M Heeney, Dean R Campagna, John F Thompson, Eric J White, Deborah L Renaud

Haematologica· December 2018

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De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.
Conor S Ryan, Anthony L Fine, Alexander L Cohen, Brenda M Schiltz, Deborah L Renaud

J Child Neurol· September 2018

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Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Laura A Adang, Omar Sherbini, Laura Ball, Miriam Bloom, Anil Darbari, Deborah L Renaud

Mol Genet Metab· September 2017

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Internal Carotid Artery Pseudoaneurysm and Ischemic Stroke Secondary to Retropharyngeal and Parapharyngeal Abscess.
Michael W Ruff, Deena M Nasr, James P Klaas, Deborah L Renaud

J Child Neurol· February 2017

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Adult-Onset Leukoencephalopathies.
Deborah L Renaud

Continuum (Minneap Minn)· April 2016

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CSF and Blood Levels of GFAP in Alexander Disease.
Paige L Jany, Guillermo E Agosta, William S Benko, Jens C Eickhoff, Stephanie R Keller, Deborah L Renaud

eNeuro· September 2015

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