LauraAnnAdangMD

PubMed

• Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.
  Stacy V Cusack, Francesco Gavazzi, Isabella Peixoto de Barcelos, Nicholson B Modesti, Sarah Woidill, Brielle Formanowski, Ariel Vincent, Abbas F Jawad, Timothy Estilow...> ;Journal of Child Neurology. 2024 Mar 27
• Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
  Laura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, Jamie L Fraser, Joshua L Bonkowsky, Francesco Gavazzi, Russel D'Aiello, Nicholson B Modesti, Emily Yu, Sylvia Mut...> ;Molecular Genetics and Metabolism. 2024 Mar 18
• Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
  Lucia Laugwitz, Daphne H Schoenmakers, Laura A Adang, Stefanie Beck-Woedl, Caroline Bergner, Geneviève Bernard, Annette Bley, Audrey Boyer, Valeria Calbi, Hanka Dekker...> ;European Journal of Paediatric Neurology. 2024 Mar 9
• Nucleotide metabolism, leukodystrophies, and CNS pathology.
  Francesco Gavazzi, Carlos Dominguez Gonzalez, Kaley Arnold, Meghan Swantkowski, Lauren Charlton, Nicholson Modesti, Asif A Dar, Adeline Vanderver, Mariko Bennett, Laur...> ;Journal of Inherited Metabolic Disease. 2024 Feb 29
• Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
  de Barcelos, I., Woidill, S., Gavazzi, F., Modesti, N., Sevagamoorthy, A., Vanderver, A., Adang, L.> ;Molecular Genetics and Metabolism. 2024 Feb 13
• 1 citations
  Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
  Schoenmakers, D., Mochel, F., Calbi, V., Eklund, E., Grønborg, S., Fumagalli, F., Groeschel, S., Lindemans, C., Sevin, C., Schöls, L., Ram, D., Zerem, A., Graessner, H...> ;Orphanet Journal of Rare Diseases. 2024 Feb 7
• TREX1 is required for microglial cholesterol homeostasis and oligodendrocyte terminal differentiation in human neural assembloids.
  Gabriela Goldberg, Luisa Coelho, Guoya Mo, Laura A Adang, Meenakshi Patne, Zhoutao Chen, Ivan Garcia-Bassets, Pinar Mesci, Alysson R Muotri> ;Molecular Psychiatry. 2023 Dec 21
• 1 citations
  Biochemical signatures of disease severity in multiple sulfatase deficiency.
  Laura A Adang, Samar Mowafy, Zackary M Herbst, Zitao Zhou, Lars Schlotawa, Karthikeyan Radhakrishnan, Brenna Bentley, Vi Pham, Emily Yu, Nishitha R Pillai, Paul J Orch...> ;Journal of Inherited Metabolic Disease. 2024 Mar 1
• 1 citations
  Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.
  Francesco Gavazzi, Allan M Glanzman, Sarah Woidill, Brielle Formanowski, Agrani Dixit, David Isaacs, Tracy Kornafel, Elizabeth Ballance, Samuel R Pierce, Nicholson Mod...> ;Journal of Child Neurology. 2023 Aug 1
• Gross Motor Function in Pediatric Onset-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in.
  Francesco Gavazzi, Virali Patel, Brittany Charsar, Allan Glanzman, Jacqueline Erler, Anjana Sevagamoorthy, Emma McKenzie, Tracy Kornafel, Elizabeth Ballance, Samuel R ...> ;Journal of Child Neurology. 2023 Aug 1
• Pulmonological issues.
  Geovanny Perez, Lisa Young, Richard Kravitz, Daniel Sheehan, Laura Adang, Keith Van Haren, Jody L Lin, Nicole Nikki Jaffe, Dennis Kuo, Laura Ball, Jennifer Keller, Jef...> ;Current Problems in Pediatric and Adolescent Health Care. 2022 Dec 1
• SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.
  Asako Takanohashi, Mohamad-Gabriel Alameh, Sarah Woidill, Julia Hacker, Benjamin Davis, Guy Helman, Francesco Gavazzi, Laura Adang, Russell D'Aiello, Patrick Winters, ...> ;Molecular Genetics and Metabolism. 2022 Dec 1
• 7 citations
  Hematologic abnormalities in Aicardi Goutières Syndrome.
  Bronner, N., Laura A Adang, Francesco Gavazzi, Russell D'Aiello, David Isaacs, Nowa Bronner, Zehra Serap Arici, Zaida Flores, Amanda Jan, Carly Scher, Omar Sherbini, E...> ;Molecular Genetics and Metabolism. 2022 Aug 1
• 1 citations
  Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).
  Francesco Gavazzi, Samuel R Pierce, Joseph Vithayathil, Kristin Cunningham, Kim Anderson, Jacob McCann, Ashley Moll, Kayla Muirhead, Omar Sherbini, Erin Prange, Holly ...> ;Molecular Genetics and Metabolism. 2022 Jul 20
• 29 citations
  The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I...
  Kader Cetin Gedik, Lovro Lamot, Micol Romano, Erkan Demirkaya, David Piskin, Sofia Torreggiani, Laura A Adang, Thais Armangue, Kathe Barchus, Devon R Cordova, Yanick J...> ;Arthritis & Rheumatology. 2022 May 1
• 25 citations
  The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I...
  Kader Cetin Gedik, Lovro Lamot, Micol Romano, Erkan Demirkaya, David Piskin, Sofia Torreggiani, Laura A Adang, Thais Armangue, Kathe Barchus, Devon R Cordova, Yanick J...> ;Annals of the Rheumatic Diseases. 2022 May 1
• Corrigendum to "Development of a neurologic severity scale for Aicardi Goutières Syndrome" [Mol Genet Metab. 2020 Jun;130(2):153-160. PMID: 32279991].
  Laura A Adang, Francesco Gavazzi, Abbas F Jawad, Stacy V Cusack, Kimberly Kopin, Kyle Peer, Constance Besnier, Micaela De Simone, Valentina De Giorgis, Simona Orcesi, ...> ;Molecular Genetics and Metabolism. 2022 May 1
• Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
  Anthony Cheung, Catherine Argyriou, Christine Yergeau, Yasmin D'Souza, Émilie Riou, Sébastien Lévesque, Gerald Raymond, Mebratu Daba, Irakli Rtskhiladze, Tinatin Tkema...> ;Neurogenetics. 2022 Apr 1
• 2 citations
  Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis.
  Marni J Falk, Amy Goldstein, Ibrahim George-Sankoh, Rui Xiao, Laura Adang, Rebecca Ganetzky, Rory J Tinker> ;Molecular Genetics and Metabolism. 2022 Apr 1
• 11 citations
  Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.
  Jessica R C Priestley, Laura A Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M Engelhardt, James C DiPerna, Brenda DiBoscio, Rebecca C Ahr...> ;International Journal of Neonatal Screening. 2022 Mar 23
• 10 citations
  Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukod...
  Daphne H Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G Goettsch, Sabine Grønborg, Samue...> ;Orphanet Journal of Rare Diseases. 2022 Feb 14
• 6 citations
  Reliability of the Telemedicine Application of the Gross Motor Function Measure-88 in Patients With Leukodystrophy.
  Francesco Gavazzi, Laura Adang, Amy Waldman, Amanda K. Jan, Geraldine Liu, Scott A. Lorch, Sara B. DeMauro, Justine Shults, Samuel R. Pierce, Elizabeth Ballance, Tracy...> ;Pediatric Neurology. 2021 Dec 1
• 2 citations
  Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy.
  Francesco Gavazzi, Brittany A Charsar, Catherine Williams, Justine Shults, Cesar A Alves, Laura Adang, Adeline Vanderver> ;Journal of Child Neurology. 2021 Sep 1
• 14 citations
  Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration
  Jenny L. Wilson, Allison Gregory, Manju A. Kurian, Ittai Bushlin, Fanny Mochel, Lisa Emrick, Laura Adang, Penelope Hogarth, Susan J. Hayflick> ;Developmental Medicine and Child Neurology. 2021 Aug 4
• Widening the MRI Findings of PLA2G6-Associated Neurodegeneration.
  Joseph Vithayathil, Laura Adang, César Augusto Pinheiro Ferreira Alves> ;Neuropediatrics. 2021 Jul 13
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