Selected Publications

Gavazzi F, Charsar B, Hamilton E, Erler JA, Patel V, Woidill S, Sevagamoorthy A, Helman G, Schmidt J, Pizzino A, Muirhead K, Takanohashi A, Bonkowsky JL, Meyerhoffer K, Simons C, Doi H, Satoko M, Matsumoto N, Delgado MR, Sanchez-Castillo M, Wang J, de Carvalho DR, Tournev I, Chamova T, Jordanova A, Clegg NJ, Nicita F, Bertini E, Teng M, Williams D, Tonduti D, Houlden H, Stellingwerff M, Wassmer E, Garcia-Cazorla A, Bernard G, Mirchi A, Toutounchi H, Wolf NI, van der Knaap MS, Shults J, Adang LA, Vanderver AL.: The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy. Mol Genet Metab. 144(3), Mar 2025.

Mutua S, Sevagamoorthy A, Woidill S, Orchard PJ, Gavazzi F, MacFarland SP, Russo P, Vanderver A, Adang LA. Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan.: Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan. Mol Genet Metab 144(1), Jan 2025.

Kotes E*, Gavazzi F*, Woidill S, Sevagamoorthy A, Yang E, Smith V, Dubbs H, Pierce SR, Pucci K, Vithayathil J, Thakur N, Adang LA: Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration. J Child Neurol 8, Oct 2024.

Peixoto de Barcelos I, Jan AK, Modesti N, Woidill S, Gavazzi F, Isaacs D, D'Aiello R, Sevagamoorthy A, Charlton L, Pizzino A, Schmidt J, van Haren K, Keller S, Eichler F, Emrick LT, Fraser JL, Shults J, Vanderver A, Adang LA. : Systemic complications of Aicardi Goutières syndrome using real-world data. Mol Genet Metab. 15(143), Sep 2024.

Gavazzi F, Vaia Y, Woidill S, Formanowski B, Peixoto de Barcelos I, Sevagamoorthy A, Modesti NB, Charlton L, Cusack SV, Vincent A, D'Aiello R, Jawad A, Galli J, Varesio C, Fazzi E, Orcesi S, Glanzman AM, Lorch S, DeMauro SB, Guez-Barber D, Waldman AT, Vanderver A, Adang LA.: Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome. Neurology 103: e209541, Jul 2024 Notes: Sared first authorship with Vaia Y.

Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, Van Haren K, Boulanger JM, Ruzhnikov M, Sylvain M, Nguyen CÉ, Potic A, Keller S, Fatemi A, Uebergang E, Poe M, Yazdani PA, Bernat J, Lindstrom K, Bonkowsky JL, Bernard G, Stutterd CA, Orchard P, Gupta AO, Ljungberg M, Groenborg S, Zambon A, Locatelli S, Fumagalli F, Elguen S, Kehrer C, Krägeloh-Mann I, Shults J, Vanderver A, Escolar ML.: Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy. Mol Genet Metab 142: 108521, Jun 2024.

Adang LA, D'Aiello R, Takanohashi A, Woidill S, Gavazzi F, Behrens EM, Sullivan KE, Goldbach-Mansky R, de Jesus AA, Workgroup A, Vanderver A, Shults J.: Interferon signaling gene expression as a diagnostic biomarker for monogenic interferonopathies. JCI Insight Jun 2024.

Gavazzi F, Gonzalez CD, Arnold K, Swantkowski M, Charlton L, Modesti N, Dar AA, Vanderver A, Bennett M, Adang LA.: Nucleotide metabolism, leukodystrophies, and CNS pathology. J Inherit Metab Dis Feb 2024.

Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, Oberg A, Ram D, Saunier-Vivar E, Schöls L, Scholz M, Sevin C, Zerem A, Wolf NI, Groeschel S.: Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management. Eur J Paediatr Neurol 2024.

Adang LA, Sevagamoorthy A, Sherbini O, Fraser JL, Bonkowsky JL, Gavazzi F, D'Aiello R, Modesti NB, Yu E, Mutua S, Kotes E, Shults J, Vincent A, Emrick LT, Keller S, Van Haren KP, Woidill S, Barcelos I, Pizzino A, Schmidt JL, Eichler F, Fatemi A, Vanderver A.: Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach. Mol Genet Metab 2024.