Publications by authors named "Nicole Wolf"

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Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective.
Francesco Gavazzi, Virali Patel, Jacqueline A Erler, Brittany Charsar, Ylenia Vaia, Nicole I Wolf

Pediatr Neurol· December 2025

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Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.
Romy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky, Adeline Vanderver, Ingeborg Krägeloh-Mann, Nicole I Wolf

Neurology· December 2025

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Cognitive and intellectual functioning in leukodystrophy patients: a systematic review.
Wietske H M Grol, Marjo S van der Knaap, Nicole I Wolf, Gert J Geurtsen

Orphanet J Rare Dis· November 2025

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Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Mackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, Alexa Derksen, Quentin Sabbagh, Nicole I Wolf

HGG Adv· October 2025

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POLR3 gene and protein expression dynamics in 4H leukodystrophy using iPSC-derived neuronal lineages.
Liza M L Kok, Heiletjé van Zyl, Felice Götte, Evanne Lichtendahl, Nicole Breeuwsma, Nicole I Wolf

Stem Cell Res· October 2025

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Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder.
Hemmo A F Yska, Marianne Golse, Shanice Beerepoot, Stefanie Hayer, Caroline Bergner, Nicole I Wolf

Mov Disord· September 2025

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ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.
Shanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, Samuel Groeschel, Ludger Schöls, Nicole I Wolf

J Inherit Metab Dis· September 2025

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First Case Report of Choledochoenterostomy in a Cat with Biliary Obstruction Due to Cholangiohepatitis and Papillary Stenosis.
Nicole Diana Wolf, Juliette Bénédicte Burg-Personnaz, Jennifer Stéphanie Eiermann, Simona Vincenti

Animals (Basel)· September 2025

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Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
Daphne H Schoenmakers, Marije A B C Asbreuk, Tamara Martin, Mareen Datema, Shanice Beerepoot, Nicole I Wolf

Eur J Paediatr Neurol· July 2025

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Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.
Marije A B C Asbreuk, Daphne H Schoenmakers, Laura Ann Adang, Shanice Beerepoot, Caroline Bergner, Nicole I Wolf

Neurology· July 2025

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Treatment of leukodystrophies: Advances and challenges.
Nicole I Wolf, Marjo S van der Knaap, Marc Engelen

Eur J Paediatr Neurol· May 2025

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Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures.
Menno D Stellingwerff, Murtadha L Al-Saady, Kwok-Shing Chan, Adam Dvorak, José P Marques, Nicole I Wolf

Eur Radiol· April 2025

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The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Francesco Gavazzi, Brittany Charsar, Eline Hamilton, Jacqueline A Erler, Virali Patel, Nicole I Wolf

Mol Genet Metab· March 2025

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Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Stefan Groeneweg, Ferdy S van Geest, Mariano Martín, Mafalda Dias, Jonathan Frazer, Nicole I Wolf

Nat Commun· March 2025

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Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.
Nadja Kaiser, Janine Magg, Thomas Nägele, Nicole Wolf, Ingeborg Krägeloh-Mann

Orphanet J Rare Dis· March 2025

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Minimally invasive computer-assisted repair of feline sacroiliac luxation-a cadaveric study.
Nicole Diana Wolf, Lukas Kleiner, Christina Precht, Julien Guevar, Mathieu de Preux

Front Vet Sci· February 2025

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Feline sacroiliac luxation: comparison of fluoroscopy-controlled freehand vs. computer-navigated drilling in the sacrum-a cadaveric study.
Lukas Kleiner, Nicole Wolf, Christina Precht, Kati Haenssgen, Franck Forterre

Front Vet Sci· January 2025

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Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.
Marisa I Mendes, Nicole I Wolf, Joëlle Rudinger-Thirion, Dominic Lenz, Magali Frugier

Nucleic Acids Res· December 2024

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POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.
Joseph D Symonds, Kristen L Park, Cyril Mignot, Stewart Macleod, Martin Armstrong, Nicole I Wolf

Epilepsia· November 2024

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Heterozygous missense CSF1R variants hamper in vitro CD34+-derived dendritic cell generation but not in vivo dendritic cell development.
Shanice Beerepoot, Nicole I Wolf, Marjo S van der Knaap, Stefan Nierkens, Maud Plantinga

Mol Immunol· October 2024

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Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.
Daphne H Schoenmakers, Sibren van den Berg, Lonneke Timmers, Laura A Adang, Tobias Bäumer, Nicole I Wolf

Neurology· September 2024

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Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.
Femke C C Klouwer, Stefan D Roosendaal, Carla E M Hollak, Mirjam Langeveld, Bwee Tien Poll-The, Nicole I Wolf

Orphanet J Rare Dis· September 2024

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Amino-acyl tRNA synthetases associated with leukodystrophy.
Marc Engelen, Marjo S van der Knaap, Nicole I Wolf

Handb Clin Neurol· September 2024

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MRI pattern recognition in white matter disease.
Nicole I Wolf, Marc Engelen, Marjo S van der Knaap

Handb Clin Neurol· September 2024

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