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

por Bascou, Nicholas A., Beltran-Quintero, Maria L., Escolar, Maria L.
Publicado 2020

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

por Bascou, Nicholas, DeRenzo, Anthony, Poe, Michele D., Escolar, Maria L.
Publicado 2018

Early disease progression of Hurler syndrome

por Kiely, Bridget T., Kohler, Jennifer L., Coletti, Hannah Y., Poe, Michele D., Escolar, Maria L.
Publicado 2017

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

por Kofler, Julia, Beltran-Quintero, Maria L., Rugari, Anne, Zuccoli, Giulio, Klotz, Sarah, Escolar, Maria L.
Publicado 2022

The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy ou...

por Klopstock, Thomas, Escolar, Maria L, Marshall, Randall D, Perez-Dueñas, Belen, Tuller, Sarah, Videnovic, Aleksandar, Greblikas, Feriandas
Publicado 2019

Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment

por Porter, Katherine Ackerman, O’Neill, Cara, Drake, Elise, Parker, Samantha, Escolar, Maria L., Montgomery, Stacey, Moon, William, Worrall, Carolyn, Peay, Holly L.
Publicado 2020

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

por Beltran-Quintero, Maria L., Bascou, Nicholas A., Poe, Michele D., Wenger, David A., Saavedra-Matiz, Carlos A., Nichols, Matthew J., Escolar, Maria L.
Publicado 2019

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

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

A Scale to Assess Activities of Daily Living in Pantothenate Kinase‐Associated Neurodegeneration

por Marshall, Randall D., Collins, Abigail, Escolar, Maria L., Jinnah, H.A., Klopstock, Thomas, Kruer, Michael C., Videnovic, Aleksandar, Robichaux‐Viehoever, Amy, Swett, Laura, Revicki, Dennis A., Bender, Randall H., Lenderking, William R.
Publicado 2019

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

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

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

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

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

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

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

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

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration

por Klopstock, Thomas, Videnovic, Aleksandar, Bischoff, Almut Turid, Bonnet, Cecilia, Cif, Laura, Comella, Cynthia, Correa‐Vela, Marta, Escolar, Maria L., Fraser, Jamie L., Gonzalez, Victoria, Hermanowicz, Neal, Jech, Robert, Jinnah, Hyder A., Kmiec, Tomasz, Lang, Anthony, Martí, Maria J., Mercimek‐Andrews, Saadet, Monduy, Migvis, Nimmo, Graeme A.M., Perez‐Dueñas, Belen, Pfeiffer, Helle Cecilie Viekilde, Planellas, Lluis, Roze, Emmanuel, Thakur, Nivedita, Tochen, Laura, Vanegas‐Arroyave, Nora, Zorzi, Giovanna, Burns, Colleen, Greblikas, Feriandas
Publicado 2020