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Works (10)

Determination of Health Concepts in β-Propeller Protein–Associated Neurodegeneration

Journal of Child Neurology
2025-01 | Journal article
DOI: 10.1177/08830738241283932
Contributors: Emma Kotes; Francesco Gavazzi; Sarah Woidill; Anjana Sevagamoorthy; Eric Yang; Vanessa Smith; Holly Dubbs; Samuel R. Pierce; Kristy Pucci; Joseph Vithayathil et al.
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Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome

Journal of Child Neurology
2024-03 | Journal article
DOI: 10.1177/08830738241241786
Contributors: Stacy V. Cusack; Francesco Gavazzi; Isabella Peixoto de Barcelos; Nicholson B. Modesti; Sarah Woidill; Brielle Formanowski; Sara B. DeMauro; Scott Lorch; Ariel Vincent; Abbas F. Jawad et al.
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Exploration of Gross Motor Function in Aicardi-Goutières Syndrome

Journal of Child Neurology
2023-08 | Journal article
DOI: 10.1177/08830738231188753
Contributors: Francesco Gavazzi; Allan M. Glanzman; Sarah Woidill; Brielle Formanowski; Agrani Dixit; David Isaacs; Tracy Kornafel; Elizabeth Ballance; Samuel R. Pierce; Nicholson Modesti et al.
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Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A

Journal of Child Neurology
2023-08 | Journal article
DOI: 10.1177/08830738231188159
Contributors: Francesco Gavazzi; Virali Patel; Brittany Charsar; Allan Glanzman; Jacqueline Erler; Anjana Sevagamoorthy; Emma McKenzie; Tracy Kornafel; Elizabeth Ballance; Samuel R. Pierce et al.
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Hodgkin lymphoma in an individual with TREX1‐mediated Aicardi Goutières syndrome

Pediatric Blood & Cancer
2022-01 | Journal article
DOI: 10.1002/pbc.29322
Contributors: Francesco Gavazzi; Jamie L. Fraser; Miriam Bloom; Laura Tochen; Jullie Rhee; Megan Kwan; Teresa Victoria; David T. Teachey; Cheng‐Ying Ho; Adeline Vanderver et al.
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Hepatic Involvement in Aicardi-Goutières Syndrome

Neuropediatrics
2021-12-14 | Journal article
DOI: 10.1055/s-0040-1722673
Contributors: Francesco Gavazzi; Zachary M. Cross; Sarah Woidill; Joseph M. McMann; Elizabeth B. Rand; Asako Takanohashi; Nicole Ulrick; Justine Shults; Adeline L. Vanderver; Laura Adang
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Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy

Journal of Child Neurology
2021-09 | Journal article
DOI: 10.1177/08830738211000977
Contributors: Francesco Gavazzi; Brittany A. Charsar; Catherine Williams; Justine Shults; Cesar A. Alves; Laura Adang; Adeline Vanderver
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Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy

Journal of Child Neurology
2021-04-12 | Journal article
DOI: 10.1177/0883073821000977
Contributors: Francesco Gavazzi; Brittany A. Charsar; Catherine Williams; Justine Shults; Cesar A. Alves; Laura Adang; Adeline Vanderver
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Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features

Pediatric Neurology
2021-02 | Journal article
DOI: 10.1016/j.pediatrneurol.2020.10.012
Contributors: Cara Piccoli; Nowa Bronner; Francesco Gavazzi; Holly Dubbs; Micaela De Simone; Valentina De Giorgis; Simona Orcesi; Elisa Fazzi; Jessica Galli; Silvia Masnada et al.
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Developmental Outcomes of Aicardi Goutières Syndrome

Journal of Child Neurology
2020-01 | Journal article
DOI: 10.1177/0883073819870944
Contributors: Laura Adang; Francesco Gavazzi; Micaela De Simone; Elisa Fazzi; Jessica Galli; Jamie Koh; Julia Kramer-Golinkoff; Valentina De Giorgis; Simona Orcesi; Kyle Peer et al.
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