Selected Publications

Gavazzi F, Pizzino A, Bally JF, et al. TUBB4A-Related Neurologic Disorders. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A: TUBB4A-Related Neurologic Disorders. GeneReviews® Seattle (WA): University of Washington, Seattle (eds.). March 2026.

Sevagamoorthy A*, Gavazzi F*, Tashnim Z, Hong P, Vaia Y, Lee-Kirsch MA, Eleftheriou D, Beerepoot S, Hully M, Berry Kravis EM, Ventola P, Raspa M, Wheeler A, DeMauro SB, Glanzman AM, Townsend E, Duong T, Cusack S, Harrington AT, Pierce S, Fitzgerald M, Fazzi E, Galli J, Orcesi S, Tonduti D, Wassmer E, Cordova D, Adang LA, Butts C, Vanderver A. *indicates shared first authorship: A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS). Mol Genet Metab. 147(3): 109765, March 2026.

Gavazzi F, Woidill S, Sevagamoorthy A, Jawad AF, D'Aiello R, Bradford J, Lerner M, Hong P, White A, Tashnim Z, Cusack SV, Glanzman AM, Harrington A, Waldman AT, Vanderver A, Adang LA. : Design of a Pediatric Low Motor Function Item Battery in leukodystrophies. Mol Genet Metab 147(4), February 2026.

Gavazzi F, Patel V, Erler JA, Charsar B, Vaia Y, Sevagamoorthy A, Vincent A, Woidill S, Wassmer E, Houlden H, Garcia-Cazorla A, Tonduti D, Wolf NI, Van der Knaap M, Bernard G, Adang LA, Vanderver A.: Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective. Pediatr Neurol.(173), 156-165, December 2025.

Gavazzi F, Pierce SR, Smith V, Yang E, Skorup J, Pucci K, Kotes E, Glanzman AM, Cusack SV, Levy T, Dubbs H, Wiener E, Woidill S, Vithayathil J, Jawad A, Thakur N, Adang LA: Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN). Mol Genet Metab 146(3): 109253, November 2025.

Gavazzi F, Yu E, Tashnim Z, Woidill S, Sevagamoorthy A, Arnold K, Ammann-Schnell L, Groeschel S, Krägeloh-Mann I, Breitling V, Schlotawa L, Ahrens-Nicklas R, Adang LA. : Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families. J Child Neurol. 40(10): 852-861, November 2025.

Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity: Varesio C, Politano D, Adang L, Ballante E, Battini R, Bertini E, Borgatti R, De Giorgis V, Del Boca A, Dragoni F, Fazzi E, Galli J, Garau J, Gavazzi F, Gardani A, La Piana R, Moroni I, Nicita F, Pichiecchio A, Pini A, Ricci F, Sartori S, Tonduti D, Vanderver A, Orcesi S. Pediatr Neurol(171), 92-99, October 2025.

van Voorst RJ, Schoenmakers DH, van Beelen I, Gavazzi F, Chapleau A, Vanderver A, Bernard G, Krägeloh-Mann I, van der Knaap MS.: The impact of vanishing white matter on unaffected family members. Orphanet J Rare Dis 20(1), August 2025.

Kotes E, Woidill S, D'Aiello R, Khan A, McCann J, Ramos M, Gavazzi F, Keller S, Van Haren K, Fatemi A, Eichler F, Hackett A, Gauna J, Amos D, Goodman J, Lee S, Page N, Schmidt J, Pizzino A, Muirhead K, Sherbini O, GLIA-CTN Workgroup, Adang L, chilts J, Grundmeier R, Vanderver A: Clinically Important Endpoints in Children with Leukodystrophy: A Multisite Study. Annals of Child Neurology Society July 2025.

Emma R. Kotes, Sarah Woidill, Russell D'Aiello, Amina Khan, Jacob McCann, Mark Ramos, Francesco Gavazzi, Stephanie Keller, Keith Van Haren, Ali Fatemi, Florian Eichler, Joshua Bonkowsky, Jamie Fraser, Lisa Emrick, Omar Sherbini, Ashley Hackett, Jeilo Gauna, Dandre Amos, Jordan Goodman, Amena Smith Fine, Amanda Nagy, Seungil Lee, Nicole Page, Johanna Schmidt, Amy Pizzino, Kayla Muirhead, Mariko Bennett, Amy Waldman, Justine Shults, Laura Adang, Robert Grundmeier, Adeline Vanderve: Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study. Annals of the Child Neurology Society July 2025.