Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature

by Nicholas A. Bascou, Maria L. Beltran-Quintero, Maria L. Escolar
Published 2020-10-01

A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life

by Nicholas Bascou, Anthony DeRenzo, Michele D. Poe, Maria L. Escolar
Published 2018-08-01

Improved Brain Pathology and Progressive Peripheral Neuropathy in a 15 Year Old Survivor of Infantile Krabbe Disease Treated With Umbilical Cord Transplantation

by Julia Kofler, Maria L. Beltran-Quintero, Anne Rugari, Giulio Zuccoli, Sarah Klotz, Maria L. Escolar
Published 2022-07-01

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

by Maria L. Beltran-Quintero, Nicholas A. Bascou, Michele D. Poe, David A. Wenger, Carlos A. Saavedra-Matiz, Matthew J. Nichols, Maria L. Escolar
Published 2019-02-01

Caregivers' assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome

by Katherine Ackerman Porter, Cara O’Neill, Elise Drake, Sara M. Andrews, Kathleen Delaney, Samantha Parker, Maria L. Escolar, Stacey Montgomery, William Moon, Carolyn Worrall, Holly L. Peay
Published 2022-04-01

β-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients and <i>Twitcher</i> Mice

by Daniela Coltrini, Adwaid Manu Krishna Chandran, Mirella Belleri, Pietro L. Poliani, Manuela Cominelli, Francesca Pagani, Miriam Capra, Stefano Calza, Simona Prioni, Laura Mauri, Alessandro Prinetti, Julia K. Kofler, Maria L. Escolar, Marco Presta
Published 2022-08-01

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration

by Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender, William R. Lenderking
Published 2019-07-01

Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation

by Manuela Corti, Barry J. Byrne, Dominic J. Gessler, Grace Thompson, Samantha Norman, Jenna Lammers, Kirsten E. Coleman, Cristina Liberati, Melissa E. Elder, Maria L. Escolar, Ibrahim S. Tuna, Clementina Mesaros, Gary I. Kleiner, Deborah S. Barbouth, Heather L. Gray-Edwards, Nathalie Clement, Brian D. Cleaver, Guangping Gao
Published 2023-09-01

Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients

by Akhil Bhalla, Ritesh Ravi, Meng Fang, Annie Arguello, Sonnet S. Davis, Chi-Lu Chiu, Jessica R. Blumenfeld, Hoang N. Nguyen, Timothy K. Earr, Junhua Wang, Giuseppe Astarita, Yuda Zhu, Damian Fiore, Kimberly Scearce-Levie, Dolores Diaz, Heather Cahan, Matthew D. Troyer, Jeffrey M. Harris, Maria L. Escolar
Published 2020-07-01